Phenotype #0000233324

Individual ID 00307901
Associated disease NDD
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., severe developmental delay, intellectual disabillity (IQ20-30); ADHD, severe sleep disorder, multiple stereotypies and disruptive behavior; seizures; corpus callosum dysgenesis, cerebellar atrophy; horseshoe kidney, vesico-ureteral reflux, cryptorchidism; no congenital heart defect; unilateral cleft lip and palate; strabismus, hypermetropia; lateral thinning of eyebrows, macrostomia, bulbous and asymmetric nose, thick lower lip, prominent chin
Inheritance Isolated (sporadic)
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-08-21 08:54:19 +02:00 (CEST)
Date last edited 2020-08-22 13:11:17 +02:00 (CEST)

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