Phenotype #0000292636

Individual ID	00399531
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	weight 13.7 (-1.28), height 90 (-2.71), OFC 50 (-0.01); growth failure; developmental/intellectual delay; 2.5y-walk; speech delay, 1y-first words, speech 4y-15 words, mostly communicates by whining or pointing; hypotonia very mildly low tone in extremities; 3m/13m/2y6m-MRI brain stable non-enhancing pineal gland cyst (benign); behavioural anomalies, sensitivity to food textures and sensory input; behavioral problems due to communication difficulties; no cardiac anomalies; exudative vitreoretinopathy, high myopia; no urogenital/kidney anomalies; normal hands; normal feet; feeding difficulties; facial dysmorphism, brachycephaly, square-shaped face, appears hyperteloric, simple ears with underfolding of helices, deep set eyes, wide spaced teeth, upturned nasal tip, long smooth philtrum; tracheomalacia at birth, very mild obstructive sleep apnea and periodic limb movement disorder, tooth abnormality (twin central incisor and large pulp chambers), pilomatricoma of the right temple
Inheritance	Isolated (sporadic)
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-21 14:10:33 +01:00 (CET)
Date last edited	N/A