Phenotype #0000210491

Individual ID	00275892
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	SNIBCPS
Phenotype details	global developmental delay; walk-2y7m; fine motor delay; speech babbles only, uses some signs; received speech/language therapy; babbles only, some signs,receptive language is strong: knows letters, numbers, shapes, colors, has some sign language; developmental delay, probably normal intelligence with speech delay; no autism/autistic features; no ADHD/ADD; Happy, social, engaged with others. Affectionate, friendly, described as endearing. Good disposition. Sensory issues to loud noise, bright lights, swings; normal weight; normal height; macrocephaly; MRI-brain thin corpus callosum; no wide CSF spaces; hypotonia; no epilepsy, no seizures; broad based gait with arms flexed. slight external rotation of both lower extremities; high forehead with frontal bossing; no widely spaced eyes; normal teeth; high arched palate; one neonatal episode of hypoglycemia; hypermetropia; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; Hypotonia in legs; Brown syndrome, laryngeal cleft, patch of tan discloration of skin on back of neck and mid-back, obstructive sleep apnea
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-01-20 21:55:37 +01:00 (CET)
Date last edited	N/A