Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Engelsk navn: Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Engelske synonym: Intellectual disability-loss of expressive language-facial dysmorphism syndrome
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.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 436151
Klassifiseringsnivå: DisorderICD-10: Q87.0
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
