Developmental Delay, Hypotonia, and Impaired Language - Ontology Browser

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Term:

Developmental Delay, Hypotonia, and Impaired Language (DOID:9000135)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)

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Developmental Delay, Hypotonia, and Impaired Language

A neurodevelopmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties. Caused by heterozygous mutation in the FBXW7 gene on chromosome 4q31.

Synonyms
Exact Synonyms:	DEDHIL
Replaced By:	DOID:0070420
Definition Sources:	OMIM:620012

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.