Phenotype #0000309726

Individual ID	00418357
Associated disease	ID
Diagnosis/Initial	syndromic intellectual disability
Diagnosis/Definite	MRXS34
Inheritance	Familial, X-linked recessive
Phenotype details	antenatal hydranios; birth weight 2540g, length 46cm, OFC 35.5cm ; weight -2SD, height -2SD, OFC +2SD; 3y-walk, speech short sentences; nasal speech; severe elocution disability; drooling; intellectual disability; no epilepsy; strabismus; shy, gentle, cheerful; no sleeping disorder; delayed puberty; slender built; scoliosis; bilateral ankylosis of MCP joint of P1; pes planus; long face; upslanting palpebral fissures; malarhypoplasia; thin high nasal root, deviated nasal septum; small mouth, open mouth; narrow high palate; crowding teeth, carries; EEG no gross anomaly; MRI brain thick corpus callosum, asymmetric lateral ventricles, cerebellum Chiari malformation type I
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-09-28 19:18:08 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD