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Prevalence (%) of clinical parameters based on data from 1 references describing 30 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 % | 30817854 | 2024-05-02 | |
| Hypotonia | nervous | 93 % | 30817854 | 2024-05-02 | |
| Mental retardation | nervous | 93 % | 30817854 | 2024-05-02 | |
| Facial dysmorphism | multi | 87 % | 30817854 | 2024-05-02 | |
| Seizures | nervous | 83 % | 30817854 | 2024-05-02 | |
| Visual impairment | nervous | 67 % | 30817854 | 2024-05-02 | |
| Cerebellar atrophy | nervous | 57 % | 30817854 | 2024-05-02 | |
| Leukodystrophy | circulatory | 53 % | 30817854 | 2024-05-02 | |
| Contracture | nervous | 53 % | 30817854 | 2024-05-02 | |
| Scoliosis | skeletal | 50 % | 30817854 | 2024-05-02 | |
| Microcephaly | nervous | 43 % | 30817854 | 2024-05-02 | |
| High arched palate | skeletal | 37 % | 30817854 | 2024-05-02 | |
| Autism | nervous | 30 % | 30817854 | 2024-05-02 | |
| Corpus callosum thining | nervous | 30 % | 30817854 | 2024-05-02 | |
| Hip dysplasia | skeletal | 30 % | 30817854 | 2024-05-02 | |
| Short limbs | multi | 30 % | 30817854 | 2024-05-02 | |
| Strabismus | nervous | 27 % | 30817854 | 2024-05-02 | |
| Inverted nipples | integumentary | 27 % | 30817854 | 2024-05-02 | |
| Compulsive behavior | nervous | 23 % | 30817854 | 2024-05-02 | |
| Hearing loss | nervous | 23 % | 30817854 | 2024-05-02 | |
| Downward sloping palpebral apertures | multi | 20 % | 30817854 | 2024-05-02 | |
| Ichthyosis | integumentary | 17 % | 30817854 | 2024-05-02 | |
| Osteopenia | skeletal | 17 % | 30817854 | 2024-05-02 | |
| Vermis hypoplasia | nervous | 13 % | 30817854 | 2024-05-02 | |
| Nystagmus | nervous | 13 % | 30817854 | 2024-05-02 | |
| Arthrogryposis | nervous | 13 % | 30817854 | 2024-05-02 | |
| Vomiting | digestive | 13 % | 30817854 | 2024-05-02 | |
| Hyperpigmentation | integumentary | 13 % | 30817854 | 2024-05-02 | |
| Hyperlaxity | multi | 10 % | 30817854 | 2024-05-02 | |
| Hepatomegaly | digestive | 10 % | 30817854 | 2024-05-02 | |
| Optic nerve atrophy | nervous | 7 % | 30817854 | 2024-05-02 | |
| Thrombocytopenia | circulatory | 7 % | 30817854 | 2024-05-02 | |
| Large fontanelle | skeletal | 6 % | 30817854 | 2024-05-02 | |
| Polymicrogyria | nervous | 3 % | 30817854 | 2024-05-02 | |
| Cataract | nervous | 3 % | 30817854 | 2024-05-02 | |
| Retinitis pigmentosa | nervous | 3 % | 30817854 | 2024-05-02 | |
| Cardiomyopathy | circulatory | 3 % | 30817854 | 2024-05-02 | |
| Hypoglycemia | multi | 3 % | 30817854 | 2024-05-02 | |
| Hypercholesterolemia | circulatory | 3 % | 30817854 | 2024-05-02 |
List of references:
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Bobby G Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A Bacino, Rita Barone, Lorenzo D Botto, Jennifer E Burton, Colleen Carlston, Brian Hon-Yin Chung, Julie S Cohen, David Coman, Katrina M Dipple, Naghmeh Dorrani, William B Dobyns, Abdallah F Elias, Leon Epstein, William A Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George E Hoganson, Jesse M Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Katherine Lewis, Nicola Longo, Charles Marques Lourenço, Christopher C Y Mak, Dianalee McKnight, Bryce A Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy Mitchell, Hiltrud Muhle, Stanley F Nelson, Mariusz Olczak, Christina G S Palmer, Arthur Partikian, Marc C Patterson, Tyler M Pierson, Shane C Quinonez, Brigid M Regan, M Elizabeth Ross, Maria J Guillen Sacoto, Fernando Scaglia, Ingrid E Scheffer, Devorah Segal, Nilika Shah Singhal, Pasquale Striano, Luisa Sturiale, Joseph D Symonds, Sha Tang, Eric Vilain, Mary Willis, Lynne A Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F Suchy, Jill A Rosenfeld, Andrew C Edmondson, Stephanie Grunewald, Hudson H Freeze,
Human mutation - Jul 2019