Phenotype #0000081802

Individual ID	00103218
Associated disease	SGBS
Phenotype details	Pre- and postnatal overgrowth syndrome with intellectual disability and congenital malformations; ultrasonograph macrosomia (HP:0001520), polyhydramnios (HP:0001561); birth 27w weight 1400g, length 40cm, OFC 29cm; 02y10m weight 17,7kg, length 99cm, OFC 49.2cm; brachycephaly (HP:0000248), coarse face (HP:0000280), hypertelorism (HP:0000316), epicanthal folds (HP:0000286), short nose (HP:0003196), broad nasal bridge (HP:0000431), arched eyebrows (HP:0002553), macrostomia (HP:0000154), macroglossia (HP:0000158), midline furrow of the tongue (HP:0000221), prognathism (HP:0000303), sparse hair (HP:0008070), low-set posteriorly rotated ears (HP:0000368), pectus carinatum (HP:0000768), broad fingers (HP:0001500), toes with short nails (HP:0001799); X-ray broad shortened phalanges (HP:0009803, HP:0006009), delayed bone age (HP:0002750), ...
Diagnosis/Initial	-
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	-
Age/Examination	02y10m (2 years, 10 months)
Age/Onset	00y00m00d
Phenotype/Onset	-
Protein	-
Owner name	Lynn Boekhoudt
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2017-04-21 23:09:57 +02:00 (CEST)
Date last edited	N/A