Disease Resources Pages

The full set of SimulConsult's Resources pages is available to users of SimulConsult's diagnostic software, which may be used only by medical professionals (registration is free).  A small number of the Resources pages are available to the general public and those about diseases are listed here:

• 3-hydroxyisobutyrl-CoA hydrolase (HIBCH; beta-hydroxyisobutyrl-CoA deacylase) deficiency
• 3-methylcrotonyl-CoA carboxylase (MCC) 1 deficiency
• 3-methylcrotonyl-CoA carboxylase (MCC) 2 deficiency
• 3 methylglutaconic aciduria, type II, Barth cardioskeletal myopathy
• 5-oxoprolinuria (glutathione synthetase deficiency)
• 49 XXXXX syndrome
• Aceruloplasminemia (Familial apoceruloplasmin deficiency)
• Achalasia-addisonianism-alacrima (AAA; triple-A syndrome; Allgrove)
• Achondroplasia
• Acrocallosal syndrome
• Acrocephalosyndactyly type I (Apert)
• Acrocephalosyndactyly type III (Saethre-Chotzen)
• Acrodysostosis (Arkless-Graham or Maroteaux-Malamut syndrome)
• Acute inflammatory demyelinating polyradiculopathy (Guillain-Barré syndrome)
• Adams-Oliver congenital scalp defects with limb anomalies
• Adenylosuccinase deficiency (ADS, adenosuccinase lyase deficiency, ADSL)
• Adrenal hypoplasia congenita, X-linked, infantile
• Adrenoleukodystrophy (ALD), X-linked
• Agenesis of the corpus callosum, isolated
• Aicardi syndrome
• Aicardi-Goutières syndrome
• Alagille cholestasis with pulmonary stenosis
• Al-Awadi Raas-Rothschild Schinzel phocomelia syndrome
• Albright hereditary osteodystrophy (pseudohypoparathyroidism)
• Alexander disease, adult
• Alexander disease, infantile
• Alexander disease, juvenile
• Alexander disease, neonatal
• Allan-Herndon-Dudley syndrome
• Alpers progressive sclerosing poliodystrophy
• Alpha-thalassemia X-linked mental retardation syndrome
• ALS1: Amyotrophic Lateral Sclerosis due to SOD1
• ALS4: Amyotrophic Lateral Sclerosis: juvenile dominant
• Alström Syndrome (Alström-Hallgren)
• Alzheimer Disease, early-onset familial
• Amniotic band syndrome (ADAM complex; Streeter dysplasia, congenital constricting bands)
• Amyloidosis I: Transthyretin amyloid neuropathy (familial amyloid polyneuropathy)
• Amyloidosis V (Finnish type, gelsolin)
• Amyloidosis VII: Oculoleptomeningeal type
• Amyotrophic Lateral Sclerosis (ALS): autosomal dominant, non ALS1
• Amyotrophic Lateral Sclerosis (ALS): juvenile recessive
• Amyotrophic Lateral Sclerosis (ALS): sporadic
• Amyotrophic Lateral Sclerosis (ALS): X-linked dominant, males
• Amyotrophy, hereditary neuralgic, with predilection for brachial plexus
• Andersen-Tawil potassium-sensitive cardiodysrhythmic periodic paralysis
• Angelman syndrome
• Aniridia, isolated
• Antiphospholipid syndrome (familial lupus anticoagulant)
• Antley-Bixler trapezoidocephaly-synostosis: steroidogenesis normal
• Argininosuccinic aciduria, early onset (argininosuccinyl-CoA-lyase deficiency; ASAL)
• Argininosuccinic aciduria, late onset (argininosuccinyl-CoA-lyase deficiency, ASAL)
• ARSACS: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
• Arthrogryposis multiplex congenita
• Aspartylglucosaminuria (aspartylglucosaminidase deficiency)
• Ataxia telangiectasia (Louis-Bar syndrome)
• Ataxia with oculomotor apraxia type 1 (AOA1, EOCA-HA)
• Ataxia with Vitamin E Deficiency (AVED, alpha-tocopherol transfer protein deficiency, Friedreich-like ataxia)
• Attention deficit hyperactivity disorder (ADHD, ADD)
• Autism
• Bannayan-Ruvalcaba-Riley syndrome (BRRS)
• Bardet-Biedl syndrome
• Bartter syndrome type 2 (antenatal)
• Bartter syndrome type 4 (infantile with sensorineural deafness)
• Becker muscular dystrophy
• Beckwith-Wiedemann exomphalos-macroglossia-gigantism syndrome
• Bethlem myopathy, adult onset
• Bethlem myopathy, childhood onset
• Bethlem myopathy, early onset
• Biotinidase (multiple carboxylase) deficiency, infantile onset
• Bloom syndrome
• Blue rubber bleb nevus syndrome
• Borjeson-Forssman-Lehmann syndrome
• BPES: Blepharophimosis, ptosis, and epicanthus inversus
• Branchio-oculo-facial syndrome
• BSCL1: Berardinelli-Seip congenital lipodystrophy 1
• BSCL2: Berardinelli-Seip congenital lipodystrophy 2
• C syndrome: Opitz trigonocephaly syndrome
• CADASIL: Cerebral autosomal dominant arteriopathy subcortical infarcts leukoencephalopathy
• Campomelic (camptomelic) dysplasia
• Camurati-Engelmann Progressive Diaphyseal Dysplasia 1
• Canavan van Bogaert-Bertrand disease (aspartoacylase deficiency, N-acetylaspartic aciduria)
• Cardiofaciocutaneous syndrome
• Cat-eye syndrome (ocular coloboma-imperforate anus)
• Cathepsin D deficiency
• Cayler hypoplasia of depressor anguli oris muscle syndrome
• CDAGS: craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, skin eruption
• CDLS1: Cornelia de Lange syndrome, classic
• CDLS2: Cornelia de Lange syndrome 2
• CEDNIK: Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma
• Celiac disease
• Central core disease, dominant (infantile)
• Central core disease, recessive (neonatal)
• Cerebral cavernous malformation (angiomas), familial
• Cerebrotendinous xanthomatosis
• CFEOM1: Congenital Fibrosis of the Extraocular Muscles 1
• CFEOM2: Congenital Fibrosis of the Extraocular Muscles 2
• CFEOM3: Congenital Fibrosis of the Extraocular Muscles 3
• Char syndrome
• CHARGE syndrome
• Chediak-Higashi syndrome
• Cerebrooculofacioskeletal syndrome (CS B, COFS, Pena-Shokeir syndrome type II)
• CHILD syndrome: congenital hemidysplasia, ichthyosiform nevus, limb defects
• Chondrodysplasia punctata 2 (Conradi-Hünermann-Happle syndrome)
• Chorea acanthocytosis (neuroacanthocytosis)
• Chromosome 1p36 deletion
• Chromosome 2q37 deletion syndrome (brachydactyly-mental retardation syndrome)
• Chromosome 3q29 deletion
• Chromosome 4p- deletion (Wolf-Hirschhorn syndrome)
• Chromosome 5p- deletion (Cri du chat syndrome)
• Chromosome 18p deletion
• Chromosome 22q11.2 deletions (Shprintzen, DiGeorge, Velocardiofacial, Conotruncal, Caylor syndromes)
• Chronic inflammatory demyelinating polyneuropathy (CIDP)
• Chylomicron retention disease (Anderson disease)
• CINCA: Chronic infantile neurological cutaneous and articular syndrome (neonatal onset multisystemic inflammatory disease; NOMID)
• Citrullinemia I, acute neonatal (classic, argininosuccinic acid synthetase deficiency)
• Citrin deficiency: citrullinemia type II
• Cleidocranial dysplasia (dysostosis)
• Clouston syndrome (ectodermal dysplasia 2, hidrotic)
• CMT 1A: Charcot-Marie-Tooth peroneal muscular atrophy (HMSN1)
• CMT 1B: Charcot-Marie-Tooth peroneal muscular atrophy (HMSN1)
• CMT 1C: Charcot-Marie-Tooth peroneal muscular atrophy (HMSN1)
• CMT 1D: Charcot-Marie-Tooth peroneal muscular atrophy (HMSN1)
• CMT2A1: Charcot-Marie-Tooth disease (HMSN2A1)
• CMT2A2: Charcot-Marie-Tooth disease (HMSN2A2)
• CMT 2B: Charcot-Marie-Tooth peroneal muscular atrophy (HMSN2)
• CMT 2B1: Charcot-Marie-Tooth peroneal muscular atrophy (HMSN2)
• CMT 2C: Charcot-Marie-Tooth peroneal muscular atrophy (HMSN2)
• CMT 2D: Charcot-Marie-Tooth peroneal muscular atrophy (HMSN2)
• CMT 2F: Charcot-Marie-Tooth peroneal muscular atrophy (HMSN2)
• CMT 3: Dejerine-Sottas disease (HMSNIII)
• CMT 4A: Charcot-Marie-Tooth disease 4A
• CMT 4B1: Charcot-Marie-Tooth Neuropathy 4B1
• CMT 4B2: Charcot-Marie-Tooth Neuropathy 4B2
• CMT 4C: Charcot-Marie-Tooth Neuropathy 4C
• CMT 4D: Hereditary motor and sensory neuropathy, Lom type HMSNL
• CMT 4E: Charcot-Marie-Tooth Neuropathy 4E
• CMT 4F: Charcot-Marie-Tooth Neuropathy 4F
• CMT 4H: Charcot-Marie-Tooth disease 4H
• CMT X1: Charcot-Marie-Tooth Neuropathy Type X1, HMSNX
• Cobalamin C: methylmalonic acidemia + homocystinuria, B12 metabolic defect
• Cockayne syndrome I (CS A, classic, less severe form)
• Cockayne syndrome II (CS B, severe infantile form)
• Coffin-Lowry syndrome, females
• Coffin-Lowry syndrome, males
• Coffin-Siris fifth digit syndrome
• Cohen syndrome (Pepper syndrome)
• Complex I (NAD CoQ reductase) deficiency
• Congenital adrenal hyperplasia: 21-hydroxylase deficiency, classic salt-wasting
• Congenital central hypoventilation syndrome (Ondine's curse)
• Congenital contractural arachnodactyly, classical (Beals syndrome)
• Congenital disorder glycosylation (CDG) Ia: phosphomannosemutase deficiency (OPCA neonatal)
• Congenital disorder glycosylation (CDG) Ib: phosphomannose isomerase deficiency
• Congenital disorder glycosylation (CDG) Id: mannosyltransferase VI deficiency
• Congenital disorder glycosylation (CDG) IIa: N-acetylglucosaminyltransferase II deficiency
• Congenital disorder glycosylation (CDG) IIc: Rambam-HaSharon GDP-fucose transporter deficiency (Leukocyte adhesion deficiency type II; LAD II)
• Congenital hypothalamic hamartoma syndrome
• Congenital myasthenic syndrome: acetylcholine receptor (AChR) deficiency
• Congenital myasthenic syndrome: endplate rapsyn deficiency
• Congenital myasthenic syndrome: endplate acetylcholinesterase (AChE) deficiency
• Congenital myasthenic syndrome: fast channel syndrome
• Congenital myasthenic syndrome: slow channel syndrome (SCCMS)
• Congenital myasthenic syndrome with episodic apnea
• Congenital myopathy with fiber-type disproportion
• Continuous spike-wave during slow sleep syndrome (Landau-Kleffner included)
• Corticobasal ganglionic degeneration (CBD)
• Costello faciocutaneoskeletal syndrome
• Cowden multiple hamartoma syndrome (Lhermitte-Duclos disease)
• Craniofrontonasal dysplasia (dysostosis), females
• Creutzfeldt-Jakob disease (CJD), contagious, new variant
• Creutzfeldt-Jakob disease (CJD), contagious, sporadic
• Creutzfeldt-Jakob disease (CJD), familial
• Crigler-Najjar glucuronyl transferase deficiency
• Crouzon craniofacial dysostosis
• Currarino sacral agenesis
• Cystinosis, infantile nephropathic (lysosomal cystine transport protein defect)
• Cytochrome C oxidase (complex IV) deficiency (COX)
• Cytomegalovirus (CMV), congenital
• Dandy Walker syndrome
• Darier-White keratosis follicularis
• Deafness-dystonia-optic neuronopathy syndrome, males (Mohr-Tranebjærg syndrome, Jensen optico-acoustic nerve atrophy)
• Degos malignant atrophic papulosis
• Delleman oculocerebrocutaneous syndrome
• Dentatorubro-pallidoluysian atrophy, adult onset (DRPLA)
• Dentatorubro-pallidoluysian atrophy, early onset (DRPLA)
• Dermatomyositis
• Desbuquois micromelic dwarfism
• Dibasicaminoaciduria II: lysinuric protein intolerance
• DK phocomelia syndrome
• Dopamine beta-hydroxylase deficiency (Norepinephrine deficiency)
• Dubowitz syndrome
• Duchenne muscular dystrophy
• Dyggve-Melichor-Clausen disease, recessive
• Dysferlinopathy: muscular dystrophy limb-girdle (2B)
• DYT1: Early onset torsion dystonia (Dystonia musculorum deformans I; Oppenheim dystonia)
• DYT4: Dystonia with whispering dysphonia (spasmodic dysphonia)
• EDS I: Ehlers-Danlos syndrome, classical
• EDS IV: Ehlers-Danlos syndrome, vascular
• EDS VI: Ehlers-Danlos syndrome, kyphoscoliotic form
• EDS VII: Ehlers-Danlos syndrome, arthrochalasic
• Ellis-van Creveld chondroectodermal dysplasia
• Emery-Dreifuss muscular dystrophy autosomal dominant (EDMD2)
• Emery-Dreifuss muscular dystrophy autosomal recessive (EDMD3)
• Emery-Dreifuss muscular dystrophy X-linked (EDMD)
• Enlarged parietal foramina type 1
• Enlarged parietal foramina type 2
• Epilepsy, idiopathic
• Episodic ataxia 1 (with myokymia; Isaacs-Mertens syndrome)
• EPM2: Lafora-body disease, juvenile (progressive myoclonic epilepsy 2)
• Fabry disease, classic, affected males
• Fabry disease heterozygote (females)
• Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine)
• Fahr familial idiopathic basal ganglia calcification (familial striatal calcifications)
• Familial hemiplegic migraine
• Familial horizontal gaze palsy with progressive scoliosis
• Fanconi anemia (pancytopenia)
• Farber lipogranulomatosis
• Fatal familial insomnia
• Fetal alcohol syndrome
• Fetal dihydantoin syndrome (phenytoin embryofetopathy)
• Fetal valproate syndrome
• FG syndrome 1: Opitz-Kaveggia syndrome
• Fibrodysplasia ossificans progressiva (Myositis ossificans progressiva)
• Fragile X-associated tremor/ataxia syndrome (FXTAS)
• Fragile-X syndrome, female heterozygotes
• Fragile-X syndrome, males
• Freeman-Sheldon craniocarpotarsal dystrophy (distal arthrogryposis 2A; whistling face syndrome)
• Friedreich ataxia
• Frontonasal dysplasia (median facial cleft syndrome)
• Frontotemporal dementia with Parkinsonism-17 (familial Pick disease)
• Fryns diaphragmatic hernia, abnormal face, limb anomalies
• Fucosidosis type I (infantile)
• Fukuyama congenital muscular dystrophy (FCMD)
• Galactosemia I (GALT, classic)
• Garcia-Lurie XK-aprosencephaly
• Gaucher disease, cardiovascular form
• Gaucher disease, perinatal-lethal form
• Gaucher disease type 1 (chronic, non-neuronopathic)
• Gaucher disease type 2 (acute infantile neuronopathic)
• Gaucher disease type 3 (subacute juvenile neuronopathic)
• GEFS+: Generalized epilepsy with febrile seizures-plus
• Geleophysic dysplasia
• Genitopatellar syndrome
• Gerstmann-Sträussler-Scheinker encephalopathy (cerebral amyloidosis)
• Giant axonal neuropathy
• Gitelman hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
• Glutaric aciduria I (glutaryl-CoA dehydrogenase deficiency)
• Glycine encephalopathy, neonatal (non-ketotic hyperglycinemia)
• Glycogen storage disease I a: von Gierke (glucose-6-phosphatase catalytic; GSD I a)
• Glycogen Storage Disease I b: von Gierke (glucose-6-phosphatase translocase; GSD I b)
• Glycogen Storage Disease II: Pompe (acid maltase (alpha glucosidase)), adult
• Glycogen Storage Disease II: Pompe (acid maltase (alpha glucosidase)), infantile
• Glycogen Storage Disease II: Pompe (acid maltase (alpha glucosidase)), juvenile
• Glycogen storage disease II b: Danon disease, males (GSD II b)
• Glycogen storage disease IV: Andersen (brancher), classic (GSD IV)
• Glycogen Storage Disease V classic: McArdle (myophosphorylase; GSD V)
• Glycogen Storage Disease V infantile: McArdle (myophosphorylase; GSD V)
• Glycogen Storage Disease V no cramps: McArdle (myophosphorylase; GSD V)
• GM1 gangliosidosis, infantile (type I)
• GM2 gangliosidosis, infantile (type II): Sandhoff disease
• GM2 gangliosidosis, infantile (type I): Tay-Sachs disease
• GM3 synthase deficiency
• Goldberg-Shprintzen megacolon syndrome
• Goldenhar hemifacial microsomia (oculoauriculovertebral dysplasia)
• Goltz focal dermal hypoplasia
• Gorlin nevoid basal cell carcinoma syndrome
• Greig cephalopolysyndactyly syndrome
• Griscelli syndrome type 2
• GTP cyclohydrolase I deficiency, recessive (hyperphenylalaninemia with neopterin deficiency)
• Hall-Riggs mental retardation syndrome
• Hallermann-Streiff syndrome (François dyscephalic syndrome)
• Hereditary congenital ptosis 1
• Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
• Hermansky-Pudlak syndrome
• HIV/AIDS, congenital
• Hirayama monomelic amyotrophy (juvenile spinal muscular atrophy)
• Holoprosencephaly I, Alobar (severe) Type
• Holoprosencephaly, semilobar and lobar (less severe type)
• Homocystinuria due to cystathionine beta-synthase deficiency
• Homocystinuria due to methylenetetrahydrofolate reductase (MTHFR) deficiency
• Hoyeraal-Hreidarsson cerebellar hypoplasia
• HPE2: holoprosencephaly 2
• HPE3: holoprosencephaly 3
• HPE4: holoprosencephaly 4
• HPE5: holoprosencephaly 5
• HSAN I: hereditary sensory neuropathy type 1 (HSN1)
• HSAN II: Morvan disease; acrodystrophic neuropathy (acroosteolysis neurogenic)
• HSAN III: familial dysautonomia (Riley-Day)
• HSAN IV: congenital insensitivity to pain with anhidrosis (CIPA)
• Hunter syndrome (MPS II A), severe
• Hunter syndrome (MPS II B), mild
• Huntington chorea, adult form
• Huntington chorea, juvenile akinetic-rigid form
• Huntington disease-like 2, early
• Huntington disease-like 2, late
• Hurler Syndrome
• Hurler-Scheie syndrome (MPS I Intermediate)
• Hypereosinophilic syndromes
• Hydrolethalus syndrome
• Hyperekplexia, adult (hyperexplexia; stiff person, stiff man)
• Hyperekplexia, infantile (hyperexplexia; stiff baby; HPX)
• Hyperkalemic periodic paralysis type 1
• Hyperornithinemia with gyrate atrophy (ornithine aminotransferase deficiency)
• Hyperparathyroidism, neonatal
• Hyperthyroidism (Graves disease)
• Hypochondroplasia
• Hypokalemic periodic paralysis
• Hypokalemic sensory overstimulation
• Hypomelanosis of Ito (Incontinentia pigmenti achromians)
• Hypophosphatasia, childhood (juvenile)
• Hypophosphatasia, infantile (phosphoethanolaminuria)
• Hypothyroidism, congenital (cretinism)
• Hypotonia-cystinuria syndrome
• IBMPFD: Inclusion body myopathy with early onset Paget disease and frontotemporal dementia
• Ichthyosiform erythroderma 1, congenital, nonbullous
• IFAP (ichthyosis follicularis, atrichia/alopecia, photophobia)
• Inclusion body myopathy 2 (IBM2; Nonaka myopathy; distal myopathy w/ rimmed vacuoles)
• Inclusion body myositis (IBM)
• Incontinentia pigmenti (Bloch-Sulzberger syndrome)
• Infantile free sialic acid storage disease (ISSD)
• Infantile neuroaxonal dystrophy, classic (Seitelberger)
• Infantile spasm syndrome, X-linked
• Isovaleric acidemia, acute neonatal (isovaleric-CoA dehydrogenase deficiency)
• Isovaleric acidemia, chronic episodic (isovaleric-CoA dehydrogenase deficiency)
• Insulin-like growth factor I (IGF-1) deficiency
• Jackson-Weiss craniosynostosis, midfacial hypoplasia, foot abnormalities
• Joubert-Boltshauser syndrome (cerebelloparenchymal disorder (CPD) IV)
• Joubert syndrome 2 (cerebellooculorenal syndrome 2)
• Joubert syndrome 3
• Joubert syndrome 4
• Juvenile myoclonic epilepsy of Janz
• Kabuki syndrome
• Kallmann syndrome 1
• Kallmann syndrome 2 (hypogonadotropic hypogonadism & anosmia)
• Kartagener syndrome
• Kearns-Sayre syndrome
• KID (Keratitis, ichthyosis, deafness; Keratodermous ectodermal dysplasia)
• Kleine-Levin hibernation syndrome
• Klinefelter 47 XXY syndrome
• Klippel Feil syndrome, autosomal dominant
• Klippel Feil syndrome, autosomal recessive
• Klippel-Trenaunay-Weber angioosteohypertrophy syndrome
• Krabbe globoid cell leukodystrophy, infantile
• L1 syndrome: Hydrocephalus with stenosis of aqueduct of Sylvius (HSAS, CRASH)
• Laing distal myopathy 1 (MPD1)
• LCAD: long chain acyl CoA dehydrogenase deficiency
• Lead encephalopathy, childhood
• Leber congenital amaurosis (LCA)
• Leber hereditary optic neuropathy (LHON)
• Leigh subacute necrotizing encephalomyelopathy, mitochondrial
• Leigh subacute necrotizing encephalomyelopathy, nuclear
• Leigh syndrome, late-infantile / juvenile
• Lennox-Gastaut syndrome
• LEOPARD syndrome (multiple lentigines; lentiginosus profusa; progressive cardiomyopathic lentiginosus)
• Lesch-Nyhan syndrome (HPRT1 deficiency)
• Leukoencephalopathy with vanishing white matter, adult (VWM, CACH)
• Leukoencephalopathy with vanishing white matter, early childhood (VWM, CACH)
• Leukoencephalopathy with vanishing white matter, infantile (VWM, CACH)
• Leukoencephalopathy with vanishing white matter, late childhood (VWM, CACH)
• Lissencephaly syndrome, Norman-Roberts type
• Lissencephaly type 1
• Long QT: Jervell and Lange-Nielsen
• Long QT: Romano-Ward syndrome
• Long QT 7: Andersen-Tawil potassium-sensitive cardiodysrhythmic periodic paralysis
• Lowe oculocerebrorenal syndrome
• Lujan-Fryns mental retardation with marfanoid habitus
• Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
• MADD: Glutaric aciduria II, neonatal (multiple acyl-CoA dehydrogenase deficiency; electron transfer flavoprotein (ETF) dehydrogenase def.)
• Maffucci multiple enchondromatosis
• Malignant hyperthermia susceptibility
• Mannosidosis, alpha 1: mild juvenile
• Mannosidosis, alpha 2: moderate infantile
• Mannosidosis, alpha 3: severe
• Maple syrup urine dis. III (pyruvate dehydrogenase E3, lipoamide or multiple dehydrogenase)
• Maple syrup urine disease, classical (Types I, II)
• Maple syrup urine disease, intermediate (Types I, II)
• Maple syrup urine disease, intermittent (Types I, II)
• Marden-Walker syndrome
• Marfan syndrome, classical
• Marfan syndrome, infantile
• Marinesco-Sjögren syndrome
• Maroteaux-Lamy syndrome (MPS VI A), severe
• Maroteaux-Lamy syndrome (MPS VI B), intermediate
• Maroteaux-Lamy syndrome (MPS VI C), mild
• Marshall syndrome
• MCAD: medium chain acyl CoA dehydrogenase deficiency
• McCune-Albright syndrome
• McLeod syndrome (X-linked neuroacanthocytosis)
• MCPH5: Microcephaly, primary autosomal recessive, 5
• MCPH6: Microcephaly, primary autosomal recessive, 6
• MDC1A: Merosin-deficient congenital muscular dystrophy
• MDC1C: muscular dystrophy, congenital, 1C
• MDC1D: muscular dystrophy, congenital, 1D
• Meckel-Gruber syndrome (dysencephalic splanchnocystica)
• Megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease)
• MELAS (myopathy, encephalopathy, lactic acidosis, stroke)
• Melkersson-Rosenthal syndrome
• MEN1: Multiple endocrine neoplasia type 1
• Menkes disease, classic (kinky hair disease, trichopoliodystrophy)
• Menkes disease, mild
• Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (MRX60)
• Mental retardation, X-linked, with progressive spasticity
• Metachromatic leukodystrophy, adult
• Metachromatic leukodystrophy, infantile
• Metachromatic leukodystrophy, juvenile
• Methylmalonic acidemia, cblA type
• Methylmalonic acidemia: infantile, non-B12 responsive
• Methylmalonic aciduria, homocystinuria, cblC, adult
• Methylmalonic aciduria, homocystinuria, cblC, childhood
• Methylmalonic aciduria, homocystinuria, cblC, infantile
• Methylmalonic aciduria, homocystinuria, cblC, neonatal
• Mevalonic aciduria (mevalonate kinase deficiency)
• MIDAS syndrome (microphthalmia, dermal aplasia (linear skin defects), sclerocornea)
• Miller-Dieker lissencephaly syndrome
• Miller-Fisher syndrome
• Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency (alpha methylacetoacetic aciduria (3-oxothiolase deficiency)
• Mitochondrial trifunctional protein deficiency, early onset (infantile)
• MKS1: Meckel-Gruber syndrome (dysencephalic splanchnocystica)
• MKS3: Meckel-Gruber syndrome, type 3
• MKS4: Meckel-Gruber syndrome, type 4
• MKS5: Meckel-Gruber syndrome, type 5
• MNGIE (mitochondrial neurogastrointestinal encephalopathy)
• Möbius congenital facial diplegia syndrome (Moebius)
• Morquio syndrome A (MPS IV A)
• Morquio syndrome B (MPS IV B)
• Mowat-Wilson syndrome
• MPD1: Laing distal myopathy 1
• MRXSSD: Siderius type X-linked mental retardation
• Mucolipidosis II (I-cell disease)
• Mucolipidosis III (pseudo-Hurler polydystrophy)
• Muenke coronal craniosynostosis syndrome
• Multiminicore myopathy, classical
• Multiminicore myopathy, moderate with hand involvement (central core disease)
• Multiminicore myopathy, ophthalmoplegic
• Multiple exostoses, type I
• Multiple pterygium syndrome, Escobar type
• Multiple pterygium syndrome, lethal type
• Multiple sclerosis
• Multiple system atrophy (MSA, Shy Drager, striatonigral degeneration, sporadic OPCA)
• Mulvihill-Smith progeroid short stature with pigmented nevi
• Muscle-eye-brain disease (MEB)
• Muscular dystrophy limb-girdle myotilinopathy (1A)
• Muscular dystrophy limb-girdle 1B
• Muscular dystrophy limb-girdle caveolinopathy (1C)
• Muscular dystrophy limb-girdle 1D
• Muscular dystrophy limb-girdle 1E
• Muscular dystrophy limb-girdle calpainopathy (2A, Leyden-Möbius or Erb)
• Muscular dystrophy limb-girdle sarcoglycanopathy (2C, 2D, 2E, 2F)
• Muscular dystrophy limb-girdle telethoninopathy (2G)
• Muscular dystrophy limb-girdle 2H
• Muscular dystrophy limb-girdle 2I
• Myasthenia gravis, juvenile / young adult
• Myasthenia gravis, older adult
• Myhre growth-mental deficiency syndrome
• Myofibrillar myopathy, desmin-related
• Myofibrillar myopathy, filaminopathy (filamin C)
• Myotonic dystrophy (Steinert disease), mild
• Myotonic dystrophy type 1 (DM1; Steinert disease), classical
• Myotonic dystrophy type 2 (DM2; Proximal myotonic myopathy; PROMM; Ricker)
• Myotubular (centronuclear) myopathy, X-linked
• Nail patella syndrome
• Nance-Horan cataract-dental syndrome
• Narcolepsy-cataplexy
• NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome
• NCL 1: Ceroid lipofuscinosis: infantile (Santavuori; INCL)
• NCL 2: Ceroid lipofuscinosis: late infantile (Jansky-Bielschowsky; LINCL)
• NCL 3: Ceroid lipofuscinosis: juvenile (Spielmeyer-Vogt, Batten; JNCL)
• NCL 4: Ceroid lipofuscinosis, adult (Kuf's disease; ANCL)
• Neonatal diabetes mellitus and cerebellar agenesis (pancreatic and cerebellar agenesis)
• Neu-Laxova syndrome
• Neuroblastoma
• Neurocutaneous melanosis
• Neuroferritinopathy
• Neurofibromatosis 1 (von Recklinghausen disease)
• Neurofibromatosis 2 (bilateral acoustic, central)
• Neurofibromatosis-Noonan syndrome
• Neuroligin-related autism / Asperger syndrome
• Neutral lipid storage disease (Dorfman-Chanarin syndrome)
• Nevus sebaceus of Jadassohn (linear sebaceous nevus)
• Niemann-Pick disease type A (infantile acid sphingomyelinase deficiency)
• Niemann-Pick disease type B (late onset acid sphingomyelinase deficiency)
• Niemann-Pick disease, juvenile (C)
• Nijmegen breakage syndrome (Berlin; Seemanova; Ataxia-Telangiectasia Variant 1)
• Noonan syndrome
• Norrie disease (atrophia bulborum hereditaria)
• Oculocutaneous Albinism Type 2
• Oculocutaneous Albinism Type 4
• Oculodentodigital (oculodentoosseous) dysplasia (ODDD, ODD, ODOD)
• Oculopharyngodistal myopathy
• OEIS: omphalocele, exstrophy, imperforate anus, spinal defects
• OFD I: Orofaciodigital syndrome type I
• Ollier multiple enchondromatosis
• OPMD: Barbeau oculopharyngeal muscular dystrophy, dominant
• OPMD: Barbeau oculopharyngeal muscular dystrophy, recessive
• Opsismodysplasia
• Opsoclonus-myoclonus syndrome
• Ornithine transcarbamylase (OTC) deficiency, early onset
• Osler-Weber-Rendu hereditary hemorrhagic telangiectasia
• Osteopathia striata with cranial sclerosis (Hyperostosis generalisata with striations)
• Osteopetrosis, autosomal dominant type I
• Osteopetrosis, autosomal dominant type II (Albers-Schonberg)
• Osteopetrosis, autosomal recessive (malignant)
• Osteopetrosis with renal tubular acidosis (carbonic anhydrase II deficiency)
• Pachyonychia congenita type 1 (Jadassohn-Lewandowski)
• Pachyonychia congenita type 2 (Jackson-Lawler)
• Pallister-Hall syndrome
• PANDAS: Pediatric Autoimmune Neuropsychiatric Disorders Assoc. Strep. Infections
• Pantothenate kinase associated neurodegeneration (Neurodegeneration with brain iron accumulation, Hallervorden-Spatz)
• Papillon-Lefevre keratosis palmoplantaris with periodontopathia
• PARK2: Parkinson disease, autosomal recessive, juvenile or early (Parkin)
• Parkinson disease, autosomal dominant (types 1, 3, 4, 8)
• Parkinson disease, non-familial idiopathic
• Paroxysmal extreme pain disorder (familial rectal pain; PEPD)
• Pearson marrow-pancreas syndrome
• Pelizaeus-Merzbacher disease, connatal
• Pelizaeus-Merzbacher disease, infantile
• Pelizaeus-Merzbacher–like disease
• Pena-Shokeir fetal akinesia (type I Pena-Shokeir syndrome)
• Perheentupa mulibrey (muscle liver brain eye) nanism
• Perinatal encephalopathy (cerebral palsy; CP), extrapyramidal
• Perinatal encephalopathy (cerebral palsy; CP), mild
• Perinatal encephalopathy (cerebral palsy; CP), severe
• Periventricular heterotopia, Ehlers-Danlos variant
• Periventricular heterotopia, familial nodular, X-linked
• Pernicious anemia (vitamin B12 malabsorption), adult
• Peroxisome biogenesis disorder: adrenoleukodystrophy (ALD), neonatal (NALD)
• Peroxisome biogenesis disorder: Refsum phytanic acid Storage disease, infantile
• Peroxisome biogenesis disorder: Zellweger cerebrohepatorenal syndrome (PBD, ZSS)
• Pfeiffer syndrome type 1 (classic acrocephalosyndactyly type V)
• Pfeiffer syndrome type 2 (acrocephalosyndactyly type V)
• PHACE association (PHACES)
• Phelan-McDermid 22q13.3 Deletion Syndrome
• Phenylketonuria (PKU)
• Pierson syndrome (microcoria-congenital nephrosis syndrome)
• Polymicrogyria, bilateral frontoparietal (BFPP; cerebellar ataxia with neuronal migration defect)
• Polymicrogyria, bilateral perisylvian
• Polymyositis
• Porphyria, acute intermittent
• Porphyria, acute intermittent: homozygote or compound heterozygote
• Post-poliomyelitic syndrome
• Potocki-Shaffer 11p deletion syndrome
• POR: Cytochrome P450 oxidoreductase deficiency, Antley-Bixler-like syndrome
• POTS: postural orthostatic tachycardia syndrome
• Prader-Willi syndrome
• Progeria (Hutchinson-Gilford progeria syndrome)
• Progressive external ophthalmoplegia, dominant
• Progressive supranuclear palsy (Steele-Richardson-Olszewski, PSP), dominant
• Propionic acidemia (propionyl-CoA carboxylase deficiency), neonatal onset
• Proteus syndrome
• Pseudoxanthoma elasticum (Gronblad-Strandberg syndrome)
• PTPS: severe 6-pyruvoyl-tetrahydrobiopterin synthetase deficiency (PKU III)
• Pyridoxine (vitamin B6) dependent seizures
• Pyruvate dehydrogenase (decarboxylase) complex deficiency, E1-alpha polypeptide 1; PDHA1
• Rabson-Mendenhall pineal hyperplasia, insulin-resistant diabetes mellitus, somatic abnormalities
• Ramon cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, stunted growth
• Refsum disease, classic / adult (HMSN IV)
• Renpenning mental retardation syndrome
• Rett syndrome
• Rhizomelic chondrodysplasia punctata (RCDP) type 1
• Ribose 5-phosphate isomerase deficiency
• Ring chromosome 13 syndrome
• Ring chromosome 20
• Rippling muscle disease
• Roberts syndrome (SC phocomelia syndrome included)
• Robinow syndrome, autosomal dominant
• Robinow syndrome, ROR2-related (autosomal recessive)
• Rothmund Thomson poikiloderma congenitale
• Rubella (German measles), congenital
• Rubinstein-Taybi syndrome
• Russell-Silver dwarfism
• Sanfilippo syndrome A (MPS III A)
• Sanfilippo syndrome B (MPS III B)
• Sanfilippo syndrome C (MPS III C)
• Sanfilippo syndrome D (MPS III D)
• SCAR1: Ataxia with oculomotor apraxia type 2 (AOA2)
• Scheie syndrome (MPS I Mild)
• Schimke immunoosseous dysplasia
• Schimmelpenning-Feuerstein-Mims organoid nevus phakomatosis
• Schizencephaly, familial
• Schwartz-Jampel chondrodystrophic myotonia
• Sclerosteosis bone dysplasias (SOST, SCL, van Buchem disease)
• Seckel bird-headed dwarf syndrome (microcephalic primordial dwarfism)
• SEDC: spondyloepiphyseal dysplasia congenita
• Sener frontonasal dysplasia and dilated Virchow-Robin spaces
• Septooptic dysplasia (de Morsier syndrome)
• Serotonin syndrome
• Shwachman-Diamond syndrome (Shwachman-Bodian-Diamond syndrome)
• Sialidosis II, congenital (neonatal)
• Sialuria (French type)
• Sickle cell disease (anemia)
• Simpson-Golabi-Behmel dysplasia gigantism syndrome
• Sjögren-Larsson syndrome
• Sly syndrome, infantile (MPS VII, beta-glucuronidase deficiency)
• Sly syndrome, mild (MPS VII, beta-glucuronidase deficiency)
• Sly syndrome, neonatal (MPS VII, beta-glucuronidase deficiency)
• SMA 1: Werdnig-Hoffman infantile spinal muscular atrophy
• SMA 2: Dubowitz spinal muscular atrophy, infantile chronic form
• SMA 3: Kugelberg-Welander juvenile spinal muscular atrophy
• SMA X1: spinal and bulbar muscular atrophy, X-linked 1 (Kennedy disease)
• SMA X3: distal, x-linked recessive spinal muscular atrophy
• Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
• Smith-Magenis Syndrome
• Sotos-Dodge cerebral gigantism
• SPG4: Spastic paraplegia 4
• SPG5A: Spastic paraplegia 5A
• SPG7: Spastic paraplegia 7, pure phenotype
• SPG11: Spastic paraplegia, autosomal recessive with thin corpus callosum, mental retardation
• SPG15: Kjellin spastic paraplegia and retinal degeneration
• SPG21: Mast syndrome (spastic paraplegia 21)
• Spinal muscular atrophy with respiratory distress 1 (SMARD, diaphragmatic infantile spinal muscular atrophy)
• Spinocerebellar ataxia (SCA) 1, adult form (OPCA I)
• Spinocerebellar ataxia (SCA) 2, Cuban type
• Spinocerebellar ataxia (SCA) 3 type I, Machado-Joseph disease
• Spinocerebellar ataxia (SCA) 3 type II, Machado-Joseph disease
• Spinocerebellar ataxia (SCA) 3 type III, Machado-Joseph disease
• Spinocerebellar ataxia (SCA) 6
• Spinocerebellar ataxia (SCA) 7 (OPCA III)
• Spinocerebellar ataxia (SCA) 8
• Spinocerebellar ataxia (SCA) 10
• Spinocerebellar ataxia (SCA) 12
• Spinocerebellar ataxia (SCA) 13
• Spinocerebellar ataxia (SCA) 14
• Spinocerebellar ataxia (SCA) 17
• Spinocerebellar ataxia (SCA) 19
• Spinocerebellar ataxia (SCA) 20 (dysphonia, spasmodic cough)
• Spinocerebellar ataxia (SCA) 23
• Spinocerebellar ataxia (SCA) 29
• Spinocerebellar ataxia with axonal neuropathy (SCAN1)
• Spondylometaepiphyseal dysplasia, anauxetic type
• SREAT, adolescent: steroid-responsive encephalopathy, autoimmune thyroiditis (Hashimoto encephalopathy included)
• SREAT, adult: steroid-responsive encephalopathy, autoimmune thyroiditis (Hashimoto encephalopathy included)
• Sturge-Weber encephalotrigeminal (encephalofacial) angiomatosis
• Stüve-Wiedemann (Schwartz-Jampel type 2) syndrome
• Succinic semialdehyde dehydrogenase deficiency (gamma hydroxybutyric aciduria, 4-hydroxybutyric aciduria, SSADH)
• Sulfite oxidase deficiency (sulfocysteinuria)
• Sydenham rheumatic chorea (Saint Vitus dance)
• Systemic lupus erythematosus (SLE)
• Tangier analphalipoproteinemia
• Thanatophoric dysplasia
• Thoracoabdominal syndrome (pentalogy of Cantrell)
• Tourette syndrome
• Townes-Brocks syndrome
• Toxoplasmosis, congenital
• Trichorhinophalangeal syndrome I
• Trichorhinophalangeal syndrome II (Langer-Giedion syndrome)
• Trichothiodystrophy, photosensitive (Tay syndrome, IBIDS syndrome)
• Trigeminal neuralgia (tic douloureux)
• Trimethylaminuria (fish odor syndrome)
• Trisomy 13 (Patau syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 21 (Down syndrome)
• Tuberous sclerosis
• Turner XO syndrome (45,X)
• Tyrosinemia II (oculocutaneous type; tyrosine transaminase (aminotransferase) deficiency; Richner-Hanhart syndrome)
• Ullrich congenital muscular dystrophy
• Urbach-Weithe lipoid proteinosis (cutaneomucous hyalinosis)
• Urofacial syndrome
• USH1: Usher retinitis pigmentosa-deafness syndrome type 1
• USH2: Usher retinitis pigmentosa-deafness syndrome type 2
• USH3: Usher retinitis pigmentosa-deafness syndrome type 3
• VACTERL association with hydrocephalus
• Van Lohuizen cutis marmorata telangiectatica congenita
• VATER association (VACTERL, VACTERAL)
• Vein of Galen malformation
• Vitamin B1 (thiamin) deficiency (beriberi), infantile, dietary
• VLCAD, infantile: very long chain acyl CoA dehydrogenase deficiency, infantile
• VLDLR-associated cerebellar hypoplasia (dysequilibrium syndrome)
• Von Hippel-Lindau syndrome
• Waardenburg syndrome type I
• Waardenburg syndrome type III (Klein-Waardenburg syndrome)
• WAGR syndrome: Wilms Tumor-Aniridia-Genital Anomalies Retardation
• Warburg micro syndrome
• Weismann-Netter anterior bowing of legs with dwarfism
• Walker-Warburg disease
• Weaver syndrome
• Werner syndrome
• West syndrome (infantile spasms)
• Whipple disease
• Williams syndrome (Williams-Beuren syndrome; WBS)
• Wilson disease (hepatolenticular degeneration)
• Wolcott-Rallison epiphyseal dysplasia with early diabetes mellitus
• Wolfram diabetes insipidus & mellitus, optic atrophy, deafness (DIDMOAD)
• Worth endosteal hyperostosis
• Xeroderma pigmentosum neurologic disease (classical, early form)
• Yunis-Varon cleidocranial dysplasia with micrognatia, ansent thumbs, distal aphalangia
• Zinsser-Cole-Engmann dyskeratosis congenita