X-Linked Alpha Thalassemia Mental Retardation Syndrome (ATR-X) X-Linked Alpha Thalassemia Family Support Network
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Detailed Clinical Findings


Description % of persons with features
FACIAL ANOMALIES
Telecanthus
32
Relative telecanthus
92
Epicanthic Folds
84
Flat Nasal Bridges
72
Mid Face Hypoplasia
88
Small Triangular Nose
87
Anteverted Nares
89
Triangular Mouth
98
Wide Spaced Incisors
67
Abnormal Ears
78
GENITAL ABNORMALITIES
Small Soft Testes
18
High Lying/Late Descent
13
Cryptorchidism
69
Inguinal Hernia/Hydrocoele
20
Hypoplastic Scrotum
20
Shawl Scrotum
4
Deficient Prepuce
13
Small Penis
22
Hypospadias
18
Ambiguous Genitalia
11
SKELETAL ABNORMALITIES
CLINICAL
Clindactyly
27