Phenotype #0000310195

Individual ID	00418907
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	MRD62
Phenotype details	birth 40w, length 50cm, weight 3430g, OFC 34cm; weight 42kg (P65), height 137cm (P22), OFC 55cm (P75); delayed motor mevelopment, 20m-walk, normal gait; normal hand skills; normal language development; no regression; no language regression; no motor regression; mild intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; OCD, repetitive behaviours; no abnormal movements; normal muscle tone; 9y-epilepsy, generalized; EEG abnormal; MRI normal; hyperopia; normal hearing; eczema; long face; normal eyes; normal nose; normal philtrum; thin upper lip vermillon, wide mouth; normal chin; large ears, thick ears; no skeletal manifestations; brachydactyly,feet syndactyly II-III; no Marfanoid habitus; no heart/aorta defects; vomiting; no endocrine dysfunction; normal breathing; no bruxism; sleep problems; no peripheral vasomotor disturbances; diminished pain response; no intense eye communication; no genital malformations; no infection tendency
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	6m
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-13 19:59:42 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD