Phenotype #0000311156

Individual ID	00419887
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	CSS10
Phenotype details	birth 38w; no IUGR; no failure to thrive; hypotonia; global developmental delay; gross motor delay; 8m-sit; 21m-walk; speech delay, slow progression of vocabulary, 12m-first words; mild intellectual disability; behavioral problems; no hyperactivity/ADHD; anxiety; no microcephaly; no seizures; hypertonia of ankles; myopia; intermittent exotropia; bilateral transient vision loss; normal hearing; facial dysmorphism, deep-set eyes, wide mouth with cupid’s bow, squared off, slightly low-set ears; advanced bone age; sacral dimple; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; history of epigastric pain and esophagitis; increased urinary frequency and occasional enuresis; frequent otis media, required 4-5 sets of ear tubes
Inheritance	Isolated (sporadic)
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