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microlissencephaly-micromelia syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.
Mondo Term and Equivalent IDs
MONDO:0018860:  microlissencephaly-micromelia syndrome
Orphanet:50810: 
UMLS:CN205181: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found