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Metadata
ID DOID:0060179
Name Renpenning syndrome
Definition An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
http://en.wikipedia.org/wiki/Renpenning%27s_syndrome
Xrefs

ICD10CM:Q87.5

OMIM:309500

ORDO:3242

Subsets

DO_FlyBase_slim

Synonyms

Golabi-Ito-Hall syndrome [EXACT]

Sutherland-Haan X-linked mental retardation syndrome [EXACT]

syndromic X-linked mental retardation 8 [EXACT]

X-linked intellectual disability due to PQBP1 mutations [EXACT]

X-linked intellectual disability, Renpenning type [EXACT]

X-linked mental retardation Renpenning type [EXACT]

X-linked mental retardation with spastic diplegia [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a syndromic X-linked intellectual disability

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