Hypogonadism with low-grade mental deficiency and microcephaly

Preferred Label : Hypogonadism with low-grade mental deficiency and microcephaly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Kraus-Ruppert (1958) described 3 brothers from a consanguineous mating. Syndactyly of the second to fourth toes and eunuchoidism were also present. The testes showed no spermatogenesis and the interstitium was occupied mainly by connective tissue. *FIELD* RF 1. Kraus-Ruppert, R.: Zur Frage ererbter diencephaler Stoerungen (infantiler Eunuchoidismus sowie Mikrocephalie bei rezessivem Erbgang). Z. Menschl. Vererb. Konstitutionsl. 34: 643-656, 1958. *FIELD* CS Neuro: Mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 241000;

Details

Origin ID

241000;

UMLS CUI

C1855858;

Currated CISMeF NLP mapping
- hypogonadism with Low-Grade mental deficiency and microcephaly [MeSH concept]
- hypogonadism with Low-Grade mental deficiency and microcephaly [MeSH Supplementary Concept]
HPO term(s)
- 2-4 toe syndactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Intellectual disability [HPO term]
- Male hypogonadism [HPO term]
- Microcephaly [HPO term]
- Syndactyly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypogonadism with Low-Grade mental deficiency and microcephaly [MeSH Supplementary Concept]
- hypogonadism with Low-Grade mental deficiency and microcephaly [MeSH concept]

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