disease: ATR-X syndrome

nameATR-X syndrome
descriptionAlpha-thalassemia X-linked intellectual disability (ATRX) syndrome is characterized by distinctive craniofacial features, genital anomalies, severe developmental delays, hypotonia, intellectual disability, and mild-to-moderate anemia secondary to alpha-thalassemia. Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short nose, tented vermilion of the upper lip, and thick or everted vermilion of the lower lip with coarsening of the facial features over time. Although all affected individuals have a normal 46,XY karyotype, genital anomalies range from hypospadias and undescended testicles to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Global developmental delays are evident in infancy and some affected individuals never walk independently or develop significant speech.
variant-disease NM_000489.5(ATRX):c.4826A>G (p.His1609Arg) AND ATR-X syndrome
NM_000489.5(ATRX):c.6250T>C (p.Tyr2084His) AND ATR-X syndrome
NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) AND ATR-X syndrome
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) AND ATR-X syndrome
NM_000489.5(ATRX):c.2105A>G (p.Asn702Ser) AND ATR-X syndrome
... 169 more