Phenotype #0000059587

Individual ID 00079874
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, severe); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 35 weeks); HP:0002188 (Delayed CNS myelination)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-08-21 12:03:44 +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.