Marfanoid impaired intellectual developmental syndrome, autosomal

Preferred Label : Marfanoid impaired intellectual developmental syndrome, autosomal;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Marfanoid mental retardation syndrome, autosomal;

Description : Fragoso and Cantu (1984) studied 2 brothers and 2 sisters with psychomotor retardation, 'typical' flat facies, and some features of the Marfan syndrome (tall stature, long and slender limbs, arm span greater than height, arachnodactyly, little subcutaneous fat, and muscle hypotonia). Parental consanguinity could not be established but was suspected. *FIELD* RF 1. Fragoso, R.; Cantu, J. M.: A new psychomotor retardation syndrome with peculiar facies and marfanoid habitus. Clin. Genet. 25: 187-190, 1984. *FIELD* CS Neuro: Psychomotor retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 248770;

Details

Origin ID

248770;

UMLS CUI

C1855347;

Currated CISMeF NLP mapping
- Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder) [SNOMED CT concept]
- Marfanoid habitus-autosomal recessive intellectual disability syndrome [ORDO Disease]
- marfanoid mental retardation syndrome, autosomal [MeSH concept]
- marfanoid mental retardation syndrome, autosomal [MeSH Supplementary Concept]
HPO term(s)
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Flat face [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Psychomotor retardation [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Tall stature [HPO term]
ORDO concept(s)
- Marfanoid habitus-autosomal recessive intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marfanoid habitus-autosomal recessive intellectual disability syndrome [ORDO Disease]
- marfanoid mental retardation syndrome, autosomal [MeSH Supplementary Concept]
- marfanoid mental retardation syndrome, autosomal [MeSH concept]

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