Phenotype #0000236307

Individual ID 00311043
Associated disease neuropathy, optic
Phenotype details Muscular hypotonia (HP:0001252); Feeding difficulties (HP:0011968); Neurodevelopmental delay (HP:0012758); Delayed ability to walk (HP:0031936); Expressive language delay (HP:0002474); Attention deficit hyperactivity disorder (HP:0007018); Autistic behavior (HP:0000729); Recurrent otitis media (HP:0000403); Hearing impairment (HP:0000365); Seizure (HP:0001250); Synophrys (HP:0000664); High palate (HP:0000218); Retrognathia (HP:0000278); Protruding ear (HP:0000411); Broad distal phalanx of finger (HP:0009836); Broad hallux (HP:0010055); Cerebral visual impairment (HP:0100704); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Abnormality of eye movement (HP:0000496); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal macular morphology (HP:0001103)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset ?
Phenotype/Onset -
Protein -
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-14 11:10:57 +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.