Phenotype #0000117210

Individual ID 00144443
Associated disease 3M2
Phenotype details HP:0007503 (Generalized Ichthyosis);
HP:0001264 (spastic diplegia);
HP:0001249 (intellectual disability);
HP:0000613 (photophobia);
HP:0001622 (premature birth, 32 weeks);
HP:0001347 (Hyperreflexia)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2017-12-14 14:43:20 +01:00 (CET)
Date last edited 2017-12-21 22:48:36 +01:00 (CET)

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.