Intellectual developmental disorder, belgian type

Preferred Label : Intellectual developmental disorder, belgian type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Mental retardation syndrome, belgian type;

Description : Fryns et al. (1990) described a family in which 4 (3 males and 1 female) of 12 children from healthy, nonconsanguineous parents had a combination of moderate mental retardation, peculiar craniofacial dysmorphism, hypergonadotropic hypogonadism, eunuchoid habitus, diabetes mellitus, and epilepsy. All were investigated as adults. The diabetes was type I beginning in the teens. The craniofacial features included a narrow-based but broad nose with coloboma of the alae nasi, deep-set eyes, and a long face with relative mandibular prognathism. *FIELD* RF 1. Fryns, J. P.; Vogels, A.; van den Berghe, H.: Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings: a 'new' mental retardation syndrome. Clin. Genet. 37: 111-116, 1990. *FIELD* CS Neuro: Moderate mental retardation; Seizures;

Inheritance : Autosomal recessive;

Prefixed ID : 249599;

Details

Origin ID

249599;

UMLS CUI

C1855303;

Currated CISMeF NLP mapping
- Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome [ORDO Disease]
- Mental retardation syndrome, Belgian type [MeSH concept]
- mental retardation syndrome, belgian type [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft ala nasi [HPO term]
- Coloboma [HPO term]
- Craniofacial dysmorphism [HPO term]
- Deeply set eye [HPO term]
- Diabetes mellitus [HPO term]
- Eunuchoid habitus [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Intellectual disability, moderate [HPO term]
- Long face [HPO term]
- Mandibular prognathia [HPO term]
- Seizure [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome [ORDO Disease]
- Mental retardation syndrome, Belgian type [MeSH concept]
- mental retardation syndrome, belgian type [MeSH Supplementary Concept]

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