Global Variome shared LOVD

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Phenotype #0000337099 Individual ID 00447907 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite LAMSHF Inheritance Isolated (sporadic) Phenotype details see paper; ..., prenatal nuchal oedema, amniocentesis; birth 41w, height 3-10th, OFC 3-10th; moderate motor developmental delay, 21m-walk; mild intellectual disability; delayed speech, 24m-first words; no behavioural anomalies; mild hypotonia; no seizures; down-slanting palpebral fissures, epicanthal folds, broad nasal bridge, upturned nose, bulbous nasal tip, prominent philtral ridges, open mouth appearance; flat feet; diastasis recti; strabismus Age/Examination 02y05m (2 years, 5 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-01 10:10:29 +01:00 (CET) Date last edited N/A

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