Phenotype #0000073657

Individual ID 00095261
Associated disease BAMS
Phenotype details complete arhinia (small pit to the left of the columella, no nasal airway); bilateral microphthalmia. Short palpebral fissures. Blepharophimosis. Bilateral corneal opacities. Upbeat nystagmus with poor fixation following reflexes. Flash Visual Evoked Potential evident bilaterally, but no consistent evidence of patent Visual Evoked Potential, suggesting visual impairment; high arched palate, hypertelorism. Bilateral complete absence of the lacrimal apparatus. Absence of nasal cavity and ethmoid sinuses; normal reproductive system; normal growth; normal psychomotor development; floor of the anterior cranial fossa is deficient anteriorly, with an encephalocele.
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-01-13 12:30:06 +01:00 (CET)
Date last edited 2017-01-13 12:45:57 +01:00 (CET)

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.