DYRK1A‑related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Engelsk navn: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Engelske synonym: 21q22.13q22.2 microdeletion syndrome,Del(21)(q22.13q22.2),Monosomy 21q22.13q22.2
Definisjon
A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.
Fra Orphanet
ORPHA: 268261
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q93.5
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
