Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Orpha code: 363686OMIM code: 615074

Definicja

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Disease data
Klasyfikacja

Disease

Kod ORPHA
363686
Kod OMIM
615074
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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