Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome

Orpha code: 436141OMIM code:

Definicja

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
436141
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl