Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of epidermolytic hyperkeratosis are described, one having a generalised variety along with mental retardation, nystagmus, unilateral breast atrophy and intermittent divergent aquint, and the other having the localised variety associated with mental retardation, ventricular septal defect, sensorineural deafness, hypoplasia of first left metacarpal and extensive dental caries.
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PMID:Epidermolytic Hyperkeratosis with Mental Retardation, Breast Hypoplasia and Ventricular Septal Defect. 2815 Jun 31