Phenotype #0000254804

Individual ID 00302604
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details birth 39w, HC 32cm, weight 2.75kg; weight 6.8kg, height 110cm; not sitting, not standing; no speech; severe intellectual disability; MRI brain abnormal; cerebral atrophy; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; hypotonia; thin upper lip, high arched palate; no microcephaly; normal internipple distance; no skin anomaly; paranasal sinus volume not increased; no autistic behaviour; no aggression; no genitourinary abnormalities; sleep disturbance; no scoliosis/kyphosis; no seizures
Inheritance Familial, autosomal recessive
Age/Examination 05y (5 years)
Age/Diagnosis -
Age/Onset 00y00m01d
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-03-25 09:51:05 +01:00 (CET)
Date last edited N/A

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