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

Orpha code: 436141OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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