Phenotype #0000017598

Individual ID	00019868
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	no brachycephaly, high forehead, no bitemporal narrowing, no horizontal eyebrows, upslanting of palpebral fissures, 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, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; no motor delay; no hypotonia; mild ataxia/motor incoordination; choreiform movements; seizures; brain anomalies; no brain anomalies; macrocephaly; central obesity; cubitus valgus
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Giuseppe Marangi
Database submission license	No license selected
Created by	Giuseppe Marangi
Date created	2014-09-09 20:56:30 +02:00 (CEST)
Date last edited	2020-10-08 11:04:40 +02:00 (CEST)

Global Variome shared LOVD