Phenotype #0000258544

Individual ID 00363178
Associated disease WARBM
Diagnosis/Initial Warburg Micro Syndrome
Diagnosis/Definite WARBM1
Phenotype details no intra-uterine growth retardation; no postnatal growth retardation; birth OFC 50th centile; postnatal microcephaly; no seizures; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; CT brain cerebral atrophy; microcornea; microphthalmia; congenital dense central cataracts; blind or light perception only; beaked nose/prominent root nose; large anteverted ears; micropenis, cryptorchidism
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-04-25 12:00:25 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.