Phenotype #0000308030

Individual ID	00416263
Associated disease	del 1p36
Diagnosis/Initial	1p36 deletion syndrome
Diagnosis/Definite	-
Phenotype details	developmental delay, hypotonia, ; single febrile seizure; enlarged lateral and third ventricles, bilateral colpocephaly, moderate to severe non-obstructive hydrocephalus; atrial septal defect,ventricular septal defect, patent ductus arteriosus, distal aortic arch hypoplastic; sensorineural hearing loss; submucosal cleft palate, velapharyngeal incompetence; prominent occiput, high forehead, large anterior fontanel, flat facial profile, deeply set eyes, narrow palpebral fissures, abnoramal, low-set, posteriorly-rotated ears, small nose, broad nasal root, micrognathia, left single palmar crease, short femurs; hypothyroidism, severe gastroesophageal reflux, decreased ossification of the skull and cervical spine, left pes cavus, calcaneovalgus deformity
Inheritance	Isolated (sporadic)
Age/Examination	2y6m (2 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-26 10:31:45 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD