genitopatellar syndrome
Genitopatellar 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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0018234
dysostosis
is_a
GTPTS
related
absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation
related
absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
exact
genitopatellar syndrome
exact
SPAC17G8.13c