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2q37 microdeletion syndrome

Disease Export to PDF
Name:
2q37 microdeletion syndrome
Description:
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.
ORPHAcode:
1001
Synonyms:
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Monosomy 2q37qter
XREF(s):
Orphanet
MeSH
OMIM
ICD-10
Analyte(s):
HDAC4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14