Intellectual disability-expressive aphasia-facial dysmorphism syndrome

Orpha code: 436151OMIM code: 616083

Definition

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
Classification

Disease

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

No additional description.

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