2q37 microdeletion syndrome
Engelsk navn: 2q37 microdeletion syndrome
Engelske synonym: Albright hereditary osteodystrophy type 3,Albright hereditary osteodystrophy-like syndrome,Brachydactyly-intellectual disability syndrome,Del(2)(q37),Deletion 2q37,Monosomy 2q37qter
Definisjon
A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.
Fra Orphanet
ORPHA: 1001
Klassifiseringsnivå: 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)
