Phenotype #0000297033

Individual ID	00404441
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 39w length 48 cm (-0.76 SD)birth 39w length 48 cm (-0.76 SD), weight 2.47 kg (-1.74 SD), OFC 33 cm (-0.78 SD); height 106 cm (-1.52 SD), weight 15.2 kg (-2.03 SD), OFC 47.5 cm (-3.77 SD); Flapping, normal EEG; Motor delay: sitting acquired at 8 months, independant walking at 22 months Language impairment: words associations at 5 years, no sentence.; Low set ears, wide mouth, prominient nasal root, triangular shaped face, retrognathia; Transitory feeding difficulties , gastroesophageal reflux during the first year; normal skin; kidney: bilateral asymmetric hypoplasia (predominent on the left kidney).; no skeletal anomalies, normal wrist/rachis/pelvis/knee radiographs; no hearing loss; Strabismus, mild myopia; normal haematopoiesis, normal iImmune functioning; Heart: normal US exploration.;
Inheritance	Isolated (sporadic)
Age/Examination	5y8m (5 years, 8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-02 10:20:20 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD