Phenotype #0000017593

Individual ID	00019865
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	brachycephaly, no high forehead, no bitemporal narrowing, horizontal eyebrows, weak upslanting of palpebral fissures, weak synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, no cupid-bow upper lip, 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; severe speech impairment; hypotonia; ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly; cleft palate; club foot; ALL; hearing loss
Age/Examination	08y (8 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 20:19:32 +02:00 (CEST)
Date last edited	2020-10-08 11:02:46 +02:00 (CEST)