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Genitopatellar syndrome is a rare
disorder consisting of
congenital flexion contractures of the
lower extremities,
abnormal or
missing patellae, and urogenital...
- (X-linked), 3, and 7 GAPO
syndrome Gaucher disease perinatal lethal Genitopatellar syndrome Gordon syndrome Granulocytopenia with
immunoglobulin abnormality...
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Williams syndrome),
acrofacial dysostosis, Antley–Bixler syndrome,
genitopatellar syndrome,
Greig cephalopolysyndactyly syndrome,
hereditary multiple...
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Blepharophimosis intellectual disability syndromes are a
group of rare
genetic disorders which are
characterized by blepharophimosis, ptosis, and intellectual...
- ALX4, ALX1
Fryns microphthalmia syndrome 600776
Fryns syndrome 229850
Genitopatellar syndrome 606170 KAT6B
Hemifacial microsomia 164210
Hypothalamic hamartomas...
- novo
mutations in the gene KAT6B
causes Young–Simpson
syndrome and
genitopatellar syndrome. ENSG00000281813 GRCh38:
Ensembl release 89: ENSG00000156650...
-
outlet obstruction Gastrocutaneous syndrome Gastrointestinal syndrome Genitopatellar syndrome Gerstmann syndrome Gerstmann–Sträussler–Scheinker syndrome...
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Congenital erythropoietic porphyria Cowden syndrome Crouzon syndrome Genitopatellar syndrome Glioblastoma multiforme Gorlin syndrome HADDS syndrome Hermansky–Pudlak...
- hypoplasia/agenesis
Diagnosis of Ohdo syndrome,
SBBYS variant, is
often confused with
genitopatellar syndrome due to
overlapping signs and symptoms. However, mask-like faces...
