Phenotype #0000034036

Individual ID 00043807
Associated disease BBSOAS
Phenotype details Upslanted palpebral fissure (HP:0000582); Hypoplastic nasal bridge (HP:0005281); Retrognathia (HP:0000278); High palate (HP:0000218); Long fingers (HP:0100807); Long toe (HP:0010511); Muscular hypotonia (HP:0001252); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Abnormality of eye movement (HP:0000496); Nystagmus (HP:0000639); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal timing of pattern reversal visual evoked potentials (HP:0030460); Intellectual disability, mild (HP:0001256); Cerebral visual impairment (HP:0100704)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-06-21 20:41:02 +02:00 (CEST)
Date last edited 2021-05-05 13:56:29 +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.