Phenotype #0000309725

Individual ID 00418356
Associated disease ID
Diagnosis/Initial syndromic intellectual disability
Diagnosis/Definite MRXS34
Inheritance Isolated (sporadic)
Phenotype details no antenatal findings; birth weight 3370g, length 50.5cm, OFC 34cm; weight 50kg (<-2SD), height 179cm (+1SD), OFC 59cm; 3y-walk, speech short sentences; nasal speech; severe elocution disability; drooling; intellectual disability; epilepsy; strabismus, myopia; shy, gentle, cheerful; normal 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; open mouth; narrow high palate; crowding teeth; MRI brain thick corpus callosum, cyst septum pellucidum, normal ventricles, hypoplastic cerebellum
Age/Examination 17y (17 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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