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Genitopatellar syndrome
rareGenitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
- Identifiers
- MONDO:0011640 OMIM:606170Orphanet:85201
- Causal genes
- KAT6B
- Part of
- DysostosisMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySkeletal dysplasiaSyndromic disease
- Also known as
- absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation · absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome · GTPTS
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