Phenotype #0000238248

Individual ID	00313948
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	no brachycephaly, high forehead, bitemporal narrowing, no horizontal eyebrows, upslanting of palpebral fissures, no synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, ventricular septal defect, no coarctation of the aorta, pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; severe speech impairment; hypotonia; ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly; macroglossia
Inheritance	Isolated (sporadic)
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-08 11:24:15 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD