Rare Disease Library

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Adducted thumbs-arthrogryposis syndrome, Christian type

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

Arthrogryposis syndrome

Arthrogryposis-anterior horn cell disease syndrome

AAHD · Vuopala disease

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

Arthrogryposis-hyperkeratosis syndrome, lethal form

Johnston-Aarons-Schelley syndrome

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Distal arthrogryposis type 6 · Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Distal arthrogryposis type 5 · Distal arthrogryposis type IIB

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Arthrogryposis-severe scoliosis syndrome

Distal arthrogryposis type 4 · Distal arthrogryposis type IID

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

SLC35A3-CDG

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

CAMFAK syndrome

CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

Serpentine-like syndrome

Distal arthrogryposis

Fraser-like syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Hypomyelination neuropathy-arthrogryposis syndrome

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

Multiple pterygium-malignant hyperthermia syndrome

Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

PEHO-like syndrome

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Ray-Peterson-Scott syndrome

Proteus-like syndrome

Robinow-like syndrome

Saal-Greenstein syndrome

Weaver-like syndrome

Wolfram-like syndrome