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short stature with microcephaly and distinctive facies

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disease characterized by dwarfism, microcephaly, and distinctive facial dysmorphism involving frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis, anteverted nares, and flat nasal bridge.
Mondo Term and Equivalent IDs
MONDO:0014347:  short stature with microcephaly and distinctive facies
UMLS:C4014339: