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
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ଏହାର ମୁଖ୍ୟଶ୍ରେଣୀ
chromosomal deletion syndrome
genetic syndromic intellectual disability[୨]
syndrome with brachydactyly[୨]
chromosome 2q deletion[୨]
2q37 deletion syndrome
genetic association
HDAC4[୪]
ICD-9-CM
758.39[୨]
NCI Thesaurus ID
exact match
ଆଧାର
- ↑ Freebase Data Dumps, ୨୮ ଅକ୍ଟୋବର 2013
- ↑ ୨.୦୦ ୨.୦୧ ୨.୦୨ ୨.୦୩ ୨.୦୪ ୨.୦୫ ୨.୦୬ ୨.୦୭ ୨.୦୮ ୨.୦୯ ୨.୧୦ ୨.୧୧ Monarch Disease Ontology release 2018-06-29, ୨୮ ଜୁଲାଇ 2018, MONDO_0010886
- ↑ Genetic and Rare Diseases Information Center, ୨୯ ମାର୍ଚ୍ଚ 2019
- ↑ P56524, ୧୩ ଅଗଷ୍ଟ 2019, UniProt