Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0033377 (
prolapse
)
11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Two sisters are reported with up-slanting palpebral fissures, hypertelorism,
ptosis
, a broad, bifid nasal tip, a high-arched palate, mental retardation, abnormal EEG and hand malformations in one of the patients. The girls' parents originate from the same village. Although the findings resemble the recently defined
neurofaciodigitorenal syndrome
, some findings suggest that this is a newly recognized syndrome.
...
PMID:A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation. 1131 Sep 93
