Phenotype #0000073658

Individual ID 00095262
Associated disease BAMS
Phenotype details complete arhinia; eyes normal; telecanthus. Downward slant palpebral fissure. Midface hypoplasia. Obstruction of nasolacrimal passage. Absence of nasal cavity, nasal bone and anterior soft tissue. High arched palate. Paramedian notch of the upper lip (bilateral). Nonpneumatization of the maxillary, sphenoid and ethmoid sinuses; slim penis; normal growth; normal psychomotor development; bilateral olfactory bulb agenesis
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 03y (3 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 12:47:17 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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.