Select relevant diseases.
| Yes | No | System Name |
|
|
Abetalipoproteinemia |
|
|
Aicardi-Goutieres syndrome (AGS) |
|
|
Amyotrophic lateral sclerosis (ALS) |
|
|
Angelman syndrome |
|
|
Apert syndrome |
|
|
Argininosuccinic aciduria |
|
|
Ataxia-telangiectasia (classic form) |
|
|
Ataxia-telangiectasia (mild form) |
|
|
Beckwith-Wiedemann syndrome |
|
|
Bloom's syndrome |
|
|
Citrullinemia |
|
|
Cockayne syndrome |
|
|
Cornelia de Lange syndrome |
|
|
Costello syndrome |
|
|
Creutzfeldt-Jakob disease |
|
|
Cri du chat syndrome |
|
|
Crisponi syndrome (cold-induced sweating syndrome) |
|
|
Crouzon syndrome |
|
|
Cutis Laxa, Type 1 |
|
|
Cutis Laxa, Type 2 |
|
|
Dubowitz syndrome |
|
|
Ehlers-Danlos syndrome, arthrochalasic (types 7A & 7B) |
|
|
Ehlers-Danlos syndrome, classic (types 1/2) |
|
|
Ehlers-Danlos syndrome, hypermobility (type 3) |
|
|
Ehlers-Danlos syndrome, kyphoscoliotic (type 6) |
|
|
Ehlers-Danlos syndrome, periodontitis (type 8) |
|
|
Ehlers-Danlos syndrome, vascular (type 4) |
|
|
Ellis van Creveld syndrome |
|
|
Fanconi anemia |
|
|
Fragile X associated tremor/ataxia syndrome (FXTAS) |
|
|
Fragile X syndrome |
|
|
Friedreich ataxia |
|
|
Hashimoto's encephalopathy |
|
|
Hyper IgM syndrome (X-linked or CD40) |
|
|
Idiopathic hypersomnia |
|
|
Jeune syndrome |
|
|
Kabuki syndrome |
|
|
Kenny-Caffey syndrome, type 2 |
|
|
Kleine-Levin syndrome |
|
|
Leprosy (Hansen's disease) |
|
|
Marfan syndrome |
|
|
Menkes disease |
|
|
Mowat-Wilson syndrome |
|
|
Narcolepsy |
|
|
Netherton syndrome |
|
|
Nijmegen breakage syndrome |
|
|
Noonan syndrome |
|
|
Osteogenesis imperfecta, type 1 |
|
|
Osteogenesis imperfecta, type 5 |
|
|
Pallister-Killian syndrome |
|
|
Pfeiffer syndrome |
|
|
Pitt-Hopkins syndrome |
|
|
Prader-Willi syndrome |
|
|
Rett syndrome (classic) |
|
|
Rett syndrome (preserved speech variant) |
|
|
Rothmund-Thomson syndrome |
|
|
Rubinstein-Taybi syndrome |
|
|
Saethre-Chotzen syndrome |
|
|
Sanjad-Sakati syndrome |
|
|
Schwartz-Jampel syndrome |
|
|
Smith Magenis syndrome |
|
|
Smith-Lemli-Opitz syndrome |
|
|
Sotos syndrome |
|
|
Stuve Wiedemann syndrome |
|
|
Subacute Sclerosing Panencephalitis (SSPE) |
|
|
Susac syndrome |
|
|
Tangier disease |
|
|
Trichothiodystrophy |
|
|
Turner syndrome |
|
|
Vitamin E deficiency with ataxia |
|
|
Williams syndrome |
|
|
XP-CS complex |
|
|
XP-Neuro |
|
|
Xeroderma pigmentosum |