Phenotype #0000081803

Individual ID 00103225
Associated disease SGBS
Phenotype details pre- and postnatal overgrowth syndrome with intellectual disability and congenital malformations; birth 36w weight 3940g, length 54cm, OFC 35.5cm; 07y04m weight 34.3kg, length 138cm, OFC 55.3cm; Neurodevelopmental delay, delayed speech, coarse face (HP:0000280),hypertelorism (HP:0000316), short nose (HP:0003196), broad nasal bridge (HP:0000431), long philtrum (HP:0000343), macrostomia (HP:0000154), macroglossia (HP:0000158), midline furrow of the tongue (HP:0000221), prognathism (HP:0000303), arched bushy eyebrows (HP:0000574, HP:0002553), synophrys (HP:0000664), ...
Diagnosis/Initial -
Inheritance Familial, X-linked recessive
Diagnosis/Definite -
Age/Examination 07y04m (7 years, 4 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 23:21:50 +02:00 (CEST)
Date last edited N/A

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