Phenotype #0000242914

Individual ID	00324371
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	normal pregnancy, birth, ,; weight p50, height p16, OFC p50; motor development 54 years: still lack of speech. learned some signs of non-verbal communication; severe intelletual disability; 25y-global IQ30; anxieties, does not like to make contact; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; normal tonus; no seizures; no congenital anomalies; long face, flat midface, high hairline, in the neck brittle hairs, large ears, sparce eyebrows; long hands/fingers. hollow feet. skin disease like eczema or psoriasis. brittle hairs. thoracic hyperkyphosis, pes cavus; 52y-hearing loss 70dB left ear; normal eyes; skin disease which resembled psoriasis or eczema. received radiation therapty at skull at 7 yrs, cause unknown;
Inheritance	Unknown
Age/Examination	73y (73 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Bregje van Bon
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-07 19:16:12 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD