Phenotype #0000015215

Individual ID 00016589
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details intellectual disability, (moderate to severe), no words, noncommunicating autism; 15m-sitting; no independent ambulation, hypotonia, failure to thrive, upturned earlobes, hypertelorism, esotropia, flat nasal bridge, suspected tracheomalacia in infancy, history of snoring; no macrodontia, no skeletal defects, nor other features of
KGB syndrome
Inheritance Isolated (sporadic)
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-05-09 14:29:12 +02:00 (CEST)
Date last edited 2014-05-29 10:13:20 +02:00 (CEST)

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