Global Variome shared LOVD

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Phenotype #0000335918 Individual ID 00446716 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite GDACCF Phenotype details see paper; ..., birth 40w; no respiratory distress; no fetal hydrops/edema; feeding difficulty in infancy; no spasticity extremities; generalized hypotonia; recurrent infections early childhood; mild pulmonary artery regurgitation; apparent scoliosis; short 5th fingers bilaterally; febrile seizures; delayed motor development, 2y6m-walk; moderate intellectual disability (IQ47); severe speech delay, unintelligible speech; shyness, anxiety, nail biting, maladaption; myopia; right moderate sensorineural hearing loss, left borderline hearing loss; small eyes, slightly downslanted, ptosis, epicanthus inversus; brachycephaly, long face, flat zygomatic areas; large, square chin, prognathism; pyramid shaped nose, broad nasal base; ankyloglossia, thin upper lips; irregular, crowded teeth, delayed primary and permanent dentition; normal ears; fine, mildly sparse hair, smooth, velvety skin; mild thrombocytopenia, mild neutropenia, borderline macrocytosis; bilateral cryptorchidism Inheritance Isolated (sporadic) Age/Examination 20y (20 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 2024-01-22 13:14:03 +01:00 (CET) Date last edited N/A

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