Intellectual disability-expressive aphasia-facial dysmorphism syndrome

Disease Export to PDF
Name:
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Description:
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.
ORPHAcode:
436151
Synonyms:
Intellectual disability-loss of expressive language-facial dysmorphism syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14