Phenotype #0000351402

Individual ID 00466017
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., decreased fetal activity; birth-36w, 25th p, 50th p, 10th p; height +0.3 SD, weight -1.8 SD, OFC -4 SD; severe developmental delay; 2y-walk, wide-based gait; speech vocalization; hypertonia; anxiety, agitation, autistic features; no seizures; CT scan brain 3y-pineal cyst; abdominal ultrasound normal; ventricular septal defect; strabismus, legal blindness; no reproductive organ anomaly
Inheritance Familial, autosomal recessive
Age/Examination 26y (26 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 2025-07-07 15:05:37 +02:00 (CEST)
Date last edited N/A

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