| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 8 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Developmental delay | nervous | 100 % | 24651605 | 2017-01-05 | |
| Chorea | nervous | 100 % | 24651605 | 2017-01-05 | |
| Hypotonia | nervous | 100 % | 24651605 | 2017-01-05 | |
| Neuropathy | nervous | 100 % | 24651605 | 2017-01-05 | |
| Alacrima | nervous | 88 % | 24651605 | 2017-01-05 | |
| Constipation | digestive | 88 % | 24651605 | 2017-01-05 | |
| Increased blood transaminase | circulatory | 88 % | 24651605 | 2017-01-05 | |
| Microcephaly | nervous | 75 % | 24651605 | 2017-01-05 | |
| Areflexia | nervous | 75 % | 24651605 | 2017-01-05 | |
| Lactate accumulation | circulatory | 67 % | 24651605 | 2017-01-05 | |
| Strabismus | nervous | 63 % | 24651605 | 2017-01-05 | |
| Intrauterine growth retardation | multi | 63 % | 24651605 | 2017-01-05 | |
| Increased blood AFP | circulatory | 60 % | 24651605 | 2017-01-05 | |
| Seizures | nervous | 50 % | 24651605 | 2017-01-05 | |
| Corneal scarring | nervous | 50 % | 24651605 | 2017-01-05 | |
| Chalazions | nervous | 50 % | 24651605 | 2017-01-05 | |
| Oculomotor apraxia | nervous | 50 % | 24651605 | 2017-01-05 | |
| Jaundice | circulatory | 50 % | 24651605 | 2017-01-05 | |
| Scoliosis | skeletal | 50 % | 24651605 | 2017-01-05 | |
| Small hands | skeletal | 50 % | 24651605 | 2017-01-05 | |
| Hearing loss | nervous | 40 % | 24651605 | 2017-01-05 | |
| Epicanthal fold | integumentary | 38 % | 24651605 | 2017-01-05 | |
| Liver fibrosis | digestive | 33 % | 24651605 | 2017-01-05 | |
| Long eyelashes | nervous | 25 % | 24651605 | 2017-01-05 | |
| Short nose | skeletal | 25 % | 24651605 | 2017-01-05 | |
| Bossed forehead | skeletal | 13 % | 24651605 | 2017-01-05 | |
| High arched palate | skeletal | 13 % | 24651605 | 2017-01-05 | |
| Micrognathia | skeletal | 13 % | 24651605 | 2017-01-05 | |
| Clinodactyly | skeletal | 13 % | 24651605 | 2017-01-05 | |
| Broad nasal bridge | skeletal | 13 % | 24651605 | 2017-01-05 | |
| Dental crowding | skeletal | 13 % | 24651605 | 2017-01-05 | |
| Proptosis | nervous | 13 % | 24651605 | 2017-01-05 |
List of references:
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Gregory M Enns, Vandana Shashi, Matthew Bainbridge, Michael J Gambello, Farah R Zahir, Thomas Bast, Rebecca Crimian, Kelly Schoch, Julia Platt, Rachel Cox, Jonathan A Bernstein, Mena Scavina, Rhonda S Walter, Audrey Bibb, Melanie Jones, Madhuri Hegde, Brett H Graham, Anna C Need, Angelica Oviedo, Christian P Schaaf, Sean Boyle, Atul J Butte, Rui Chen, Rong Chen, Michael J Clark, Rajini Haraksingh, , Tina M Cowan, Ping He, Sylvie Langlois, Huda Y Zoghbi, Michael Snyder, Richard A Gibbs, Hudson H Freeze, David B Goldstein,
Genetics in medicine : official journal of the American College of Medical Genetics - Oct 2014