Rare Disease Library

CAMFAK syndrome

CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome

Achalasia-microcephaly syndrome

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

Aphalangy-syndactyly-microcephaly syndrome

Arthrogryposis syndrome

Arthrogryposis-severe scoliosis syndrome

Distal arthrogryposis type 4 · Distal arthrogryposis type IID

Cataract-microcornea syndrome

Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome

NEDMABA disorder · Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

Microcephaly-brachydactyly-kyphoscoliosis syndrome

Viljoen-Kallis-Voges syndrome

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Porencephaly-microcephaly-bilateral congenital cataract syndrome