Phenotype #0000235504

Individual ID 00310201
Associated disease neuropathy, optic
Phenotype details Hyperbilirubinemia (HP:0002904); Recurrent hand flapping (HP:0100023); Toe walking (HP:0040083); Delayed fine motor development (HP:0010862); Muscular hypotonia (HP:0001252); Autistic behavior (HP:0000729); Attention deficit hyperactivity disorder (HP:0007018); Specific learning disability (HP:0001328); EEG with central sharp waves (HP:0011293); Protruding ear (HP:0000411); Micrognathia (HP:0000347); Cupped ear (HP:0000378); Midface retrusion (HP:0011800); Depressed nasal tip (HP:0000437); Thick vermilion border (HP:0012471); Joint hypermobility (HP:0001382); Optic nerve hypoplasia (HP:0000609); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Speech articulation difficulties (HP:0009088); Impaired executive functioning (HP:0033051); Impaired use of nonverbal behaviors (HP:0000758); Optic atrophy (HP:0000648)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset 02y
Phenotype/Onset -
Protein -
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-09 14:29:31 +02:00 (CEST)
Date last edited 2021-05-07 17:47:34 +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.