Phenotype #0000242906

Individual ID	00324363
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth 38w, birth weight 2.4kg (p5),; weight p50, height p10, OFC p15; motor development first words < 12 m. still learning short sentences at age of almost 4.; speech furst words <12m; mild intelletual disability; BAYLEY II: 33m-functioned as 17m, MDI < 50, DQ51. VINELAND II: ABC71. COMMUNICATION = 71: she understands better than she express herself. Daily living skills = 78, Socialization = 76, Motor skills = 72.; attention/concentration deficit, hyperactivity, sensory processing disorder agressive, restricted and repetitive behavior. obsessions.; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; <4y febrile seizures, medication 'Sodium Valporate 200/5 - 180mg 2 times a day; EEG normal; MRI brain normal; ataxia; surgery for tied tongue (frenectomy); micrognatia, ptosis, underbite; bilateral asymmetric hearloss, mild (25-39dBHL); normal eyes; recurrent ear infections 4-5x/year. atopic eczema. medication: restlessness. she takes 2 drops a day of neuleptil 4%' sodium valproate 200/5 - 180mg 2 times a day. (fever seizures);
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 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