2q37 monosomy
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism
External resources
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nënklasë e
chromosomal deletion syndrome
genetic syndromic intellectual disability[2]
syndrome with brachydactyly[2]
chromosome 2q deletion[2]
2q37 deletion syndrome
genetic association
HDAC4[4]
ICD-9-CM
758.39[2]
NCI Thesaurus ID
përputhje e saktë
Reference
- ^ Freebase Data Dumps, 28 tetor 2013
- ^ a b c d e f g h i j k l Monarch Disease Ontology release 2018-06-29, 28 korrik 2018, MONDO_0010886
- ^ Genetic and Rare Diseases Information Center, 29 mars 2019
- ^ P56524, 13 gusht 2019, UniProt