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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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 |
| Skin wrinkles | integumentary | 100 % | 22683087 | 2024-04-29 | |
| Facial dysmorphism | multi | 100 % | 22683087 | 2024-04-29 | |
| Short stature | endocrine | 100 % | 22683087 | 2024-04-29 | |
| Increased blood transaminase | circulatory | 80 % | 22683087 | 2024-04-29 | |
| Decreased growth hormone | endocrine | 80 % | 22683087 | 2024-04-29 | |
| Microcephaly | nervous | 80 % | 22683087 | 2024-04-29 | |
| Muscle weakness | nervous | 80 % | 22683087 | 2024-04-29 | |
| Psychomotor retardation | nervous | 80 % | 22683087 | 2024-04-29 | |
| Hypermobile joints | skeletal | 80 % | 22683087 | 2024-04-29 | |
| Hypoplasia of the pituitary gland | nervous | 60 % | 22683087 | 2024-04-29 | |
| Thrombocytopenia | circulatory | 60 % | 22683087 | 2024-04-29 | |
| Visual impairment | nervous | 60 % | 22683087 | 2024-04-29 | |
| Hepatomegaly | digestive | 60 % | 22683087 | 2024-04-29 | |
| Midfacial hypoplasia | multi | 60 % | 22683087 | 2024-04-29 | |
| Dysplastic fourth metacarpals and metatarsals | skeletal | 60 % | 22683087 | 2024-04-29 | |
| Bone dysplasia | skeletal | 60 % | 22683087 | 2024-04-29 | |
| Kyphosis | skeletal | 60 % | 22683087 | 2024-04-29 | |
| Hypoplasia of femoral heads | skeletal | 60 % | 22683087 | 2024-04-29 | |
| Cerebral atrophy | nervous | 60 % | 22683087 | 2024-04-29 | |
| Dysplastic vertebrae and ribs | skeletal | 60 % | 22683087 | 2024-04-29 | |
| Osteoporosis | skeletal | 60 % | 22683087 | 2024-04-29 | |
| Coagulopathy | circulatory | 40 % | 22683087 | 2024-04-29 | |
| Feeding difficulties | multi | 40 % | 22683087 | 2024-04-29 | |
| Hypothermia | multi | 40 % | 22683087 | 2024-04-29 | |
| Seizures | nervous | 40 % | 22683087 | 2024-04-29 | |
| Dysplastic toenails | integumentary | 20 % | 22683087 | 2024-04-29 | |
| Amelogenesis imperfecta | integumentary | 20 % | 22683087 | 2024-04-29 |
List of references:
TMEM165 deficiency causes a congenital disorder of glycosylation.
François Foulquier, Mustapha Amyere, Jaak Jaeken, Renate Zeevaert, Els Schollen, Valérie Race, Riet Bammens, Willy Morelle, Claire Rosnoblet, Dominique Legrand, Didier Demaegd, Neil Buist, David Cheillan, Nathalie Guffon, Pierre Morsomme, Willem Annaert, Hudson H Freeze, Emile Van Schaftingen, Miikka Vikkula, Gert Matthijs,
American journal of human genetics - Jul 2012