Phenotype #0000311163

Individual ID	00419894
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	CSS10
Phenotype details	birth 41w; no IUGR; no failure to thrive; hypotonia; global developmental delay; gross motor delay; fine motor delay; 6m-sit; 16m-walk; speech delay; borderline intellectual disability IQ72; behavioral problems; hyperactivity/ADHD; no anxiety; trichotillomania; depression; self-harming behavior; no microcephaly; no seizures; myopia; no strabismus; amblyopia; astigmatism; history of tear duct obstruction; normal hearing; hooded eyelids with downslanting palpebral fissures, prominent nasal bridge; broad nasal tip, deep philtrum; cupid's bow, low-set ears; bilateral pes planus; right ankle overpronation, pectus excavatum; no ventricular septal defect; no atrial septal defect; no patent foramen; anomalous coronary artery; choledochal cyst; hypospadias, chordee, nocturnal enuresis
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-24 18:06:51 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD