Global Variome shared LOVD

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Phenotype #0000231383 Individual ID 00305534 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite holoprosencephaly Phenotype details see paper; ..., birth 35w, OFC; Microcephaly; developmental delay; motor delay; speech delay; no epilepsy, Isolated seizure associated with fentanyl administration, normal EEG; hypotonia; facial abnormalities; Pancreatic exocrine deficiency treated with enzyme therapy; Pancreatic insufficiency: neonatal diabetes mellitus requiring insulin therapy; Bilateral conductive and sensorineural hearing loss (R>L), CT scan showed ossicle anomalies; no vision abnormalities; Intrauterine growth restriction; MRI-brain semilobar Inheritance Isolated (sporadic) Age/Examination 01y04m (1 year, 4 months) 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 2020-06-28 10:52:31 +02:00 (CEST) Date last edited 2020-06-29 13:49:01 +02:00 (CEST)

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