Phenotype #0000015268

Individual ID 00016890
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, X-linked recessive
Phenotype details Prenatally: a raised maternal serum alpha-fetoprotein, intrauterine growth restriction, and an ectopic left kidney. Postnatally: feeding difficulties, hypotonia, tracheomalacia, gastro-esophageal reflux disease and developmental delay with speech development most affected. Broad thumbs, curving toe nails and short stature. 9y: ID (nonverbal, speech having regressed at 3y), obsessive and autistic behaviors, elevated testosterone and decreased, cholesterol levels, short stature
Age/Examination 09y (9 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-06-05 17:31:47 +02:00 (CEST)
Date last edited 2018-01-01 11:52:37 +01:00 (CET)

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