Phenotype #0000321943

Individual ID 00431343
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., microcephaly; short stature; moderate developmental delay; 7-8y-sit; not walking; non-verbal; school special education; no autonomy; 6y-precocious puberty; severe intellectual disability; dysmorphism; poor head control; spasticity/hypertonia lower extremities; choreo-athetoid movements in upper limbs; seizures; MRI brain abnormal; abdominal ultrasound multicystic atrophic right kidney, vesicoureteral reflux; advanced bone age; small labia minora, small clitoris; cortical visual impairment, nystagmus, myopia both eyes
Inheritance Familial, autosomal recessive
Age/Examination 8y4m (8 years, 4 months)
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 2023-02-09 10:08:23 +01:00 (CET)
Date last edited N/A

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