Phenotype #0000236609

Individual ID 00311361
Associated disease neuropathy, optic
Phenotype details Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Head-banging (HP:0012168); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Infantile spasms (HP:0012469); Focal-onset seizure (HP:0007359); Myoclonus (HP:0001336);
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset ?
Phenotype/Onset -
Protein -
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-22 11:33:23 +02:00 (CEST)
Date last edited 2021-05-05 16:34:12 +02:00 (CEST)

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.