Phenotype #0000015299

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00016932
Associated disease	MRX;IDX
Phenotype details	moderate-severe intellectual disability, occasional aggressive outbursts, microcephaly, height 180 cm (75th centile), weight 65 kg (25-50th centile), OFC 52 cm (<3rd centile); 3 affected male maternal cousins, 1 hydrocephalus died shortly after birth, 1 died age 3y, 1 moderate intellectual disability
Diagnosis/Initial	intellectual disability
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	-
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
Protein	-
Owner name	Andreas Tzschach
Database submission license	No license selected
Created by	Andreas Tzschach
Date created	2014-05-30 13:24:41 +02:00 (CEST)
Date last edited	2021-12-02 10:37:51 +01:00 (CET)