Intellectual disability-expressive aphasia-facial dysmorphism syndrome

Orpha code: 436151OMIM code: 616083

Definicja

A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures.

Disease data
Klasyfikacja

Disease

Synonimy
Intellectual disability-loss of expressive language-facial dysmorphism syndrome
Zespół niepełnosprawności intelektualnej, utraty języka ekspresywnego i dysmorfii twarzy
Kod ORPHA
436151
Kod OMIM
616083
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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