Global Variome shared LOVD

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Phenotype #0000357288 Individual ID 00472478 Associated disease NDD Diagnosis/Initial neurodevelopmental delau Diagnosis/Definite CHOCNS Phenotype details see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; developmental delay; intellectual disability (IQ=25); autism; aggressive, attention deficit hyperactivity disorder/attention deficit disorder; 36m-walk; 10y-speech, short sentences; hypotonia; no seizures, EEG abnormal; MRI brain microcephaly, cerebellar vermis hypoplasia; ptosis, hypermetropia, alternating esotropia; no gastrointestinal anomalies; unilateral cryptorchidism; patent foramen ovale; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; limb hypertonia, upper limb tremor, scoliosis, joint hypermobility, cleft fifth lumbar arch; long face, arched sparse eyebrows, long eyelashes, bilateral ptosis, upslanted palpebral fissure, strabismus, high nasal root, broad nasal tip, short philtrum, widely spaced teeth Extremities: pes valgus Chest: asymmetry of the thorax, pectoral hypoplasia/aplasia, short clavicles Inheritance Isolated (sporadic) Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-18 11:04:57 +01:00 (CET) Date last edited N/A

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