Phenotype #0000242918

Individual ID 00324375
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details motor development poor speech; severe intelletual disability; hypotonia; febriles eizures reported at 18 and 22 months. Generalized Seizure at 22 years. Generalized Seizures and motor automotisms since 33 years. Currently on antiepileptic treatment with Lamotrigine.; no congenital anomalies; long face, low-set hairline. dental crowding, high narrow palate, large and low-set ears, ptosis; hirsutism, interdigital webbing. prominent interdigital folds, brachydactyly, dubois sign, wide halluces. lubar hyperlordosis; diabetic mellitus type 2;
Inheritance Unknown
Age/Examination 34y (34 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Bregje van Bon
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-12-07 19:16:12 +01:00 (CET)
Date last edited N/A

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