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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-09-28 19:18:08 +02:00 (CEST)
Date last edited N/A

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