Phenotype #0000042920

Individual ID	00056297
Associated disease	WDSTS
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	-
Birth_Details	-
Diagnosis/Definite	-
Age/Examination	07y06m (7 years, 6 months)
Height-Weight-OFC	-
Phenotype details	Intrauterine growth retardation Postnatal growth retardation Short palpebral fissures Hypertelorism Epicanthus Wide nasal bridge/broad nasal tip Micrognathia Rib anomalies Delayed bone age Constipation Low hair line Developmental delay Intellectual disability Hypotonia Ambiguous genitalia Discordance between gender and karyotype Abnormal gonadal development Normal TSH, T4, GH, LH, high FSH, E2, low T levels
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Guorui Hu
Database submission license	No license selected
Created by	Guorui Hu
Date created	2015-12-09 15:03:38 +01:00 (CET)
Date last edited	2015-12-11 12:30:23 +01:00 (CET)