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macrocephaly, dysmorphic facies, and psychomotor retardation

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients.
Mondo Term and Equivalent IDs
MONDO:0014863:  macrocephaly, dysmorphic facies, and psychomotor retardation
UMLS:C4310766: