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


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.

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Informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.

ORPHA: 1001
Klassifiseringsnivå: Disorder
ICD-10: Q93.5



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