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Meier-Gorlin syndrome 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.
Uniprot Description A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal.
Mondo Term and Equivalent IDs
MONDO:0013430:  Meier-Gorlin syndrome 3
DOID:0080514: 
UMLS:C3151113: