Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0025362 (
mental retardation
)
15,878
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We have studied 2 Egyptian sibs (the offspring of normal first cousins) with congenital cataract, hypertrichosis,
mental retardation
, and normal chromosomes. Review showed that the condition of our patients was not similar to any previously reported entity. POSSUM lists 84 syndromes with any of the above 3 main traits. Two disorders with cataract and
mental retardation
, Martsolf syndrome and
Mollica-Pavone-Anterer syndrome
, have overlapping manifestations and therefore are particularly differentiated from our cases. We suggest that the association of congenital cataract, hypertrichosis, and
mental retardation
observed in this report represents a new autosomal recessive syndrome.
...
PMID:Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome. 177 32
