Global Variome shared LOVD

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Phenotype #0000357884 Individual ID 00473089 Associated disease paraplegia Diagnosis/Initial hereditary paraplegia Diagnosis/Definite - Phenotype details Psychomotor delay; Mild mental retardation; Seizures; Hirschsprung; Speech delay; Delayed walking; Prominent forehead; Micrognathia; Low set ears, mild; Nystagmus; Myopia; Small & short nose; Depressed nasal bridge; Full cheeks; Polydactyly, postaxial, hands; Polydactyly, Lt. foot;. R/O Acrocallosal syndrome or Greig Cephalopolysyndactyly syndrome. Inheritance Unknown Age/Examination 1y (1 year) 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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