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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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 |
| Long philtrum | integumentary | 100 % | 19008299 | 2024-05-14 | |
| Scoliosis | skeletal | 100 % | 19008299 | 2024-05-14 | |
| Thin lips | integumentary | 100 % | 19008299 | 2024-05-14 | |
| Short neck | skeletal | 100 % | 19008299 | 2024-05-14 | |
| Posteriorly rotated ears | multi | 100 % | 19008299 | 2024-05-14 | |
| Micrognathia | skeletal | 100 % | 19008299 | 2024-05-14 | |
| Microcephaly | nervous | 100 % | 19008299 | 2024-05-14 | |
| Facial dysmorphism | multi | 100 % | 19008299 | 2024-05-14 | |
| Mental retardation | nervous | 100 % | 19008299 | 2024-05-14 | |
| Vertebral segmentation defects | skeletal | 100 % | 19008299 | 2024-05-14 | |
| Laterally facing nipples | integumentary | 100 % | 19008299 | 2024-05-14 | |
| Fusion of ribs | skeletal | 100 % | 19008299 | 2024-05-14 | |
| Developmental delay | multi | 100 % | 19008299 | 2024-05-14 | |
| Narrow ear canal | multi | 50 % | 19008299 | 2024-05-14 | |
| Broad nasal bridge | skeletal | 50 % | 19008299 | 2024-05-14 | |
| High arched palate | skeletal | 50 % | 19008299 | 2024-05-14 | |
| Microtia | multi | 50 % | 19008299 | 2024-05-14 | |
| Poor response to childhood vaccinations | lymphatic | 50 % | 19008299 | 2024-05-14 | |
| Recurrent infections | lymphatic | 50 % | 19008299 | 2024-05-14 | |
| Speech delay | multi | 50 % | 19008299 | 2024-05-14 | |
| Renal failure | urinary | 50 % | 19008299 | 2024-05-14 | |
| Thrombocytopenia | circulatory | 50 % | 19008299 | 2024-05-14 | |
| Kyphosis | skeletal | 50 % | 19008299 | 2024-05-14 | |
| Conductive hearing loss | multi | 50 % | 19008299 | 2024-05-14 | |
| Hydronephrosis | urinary | 50 % | 19008299 | 2024-05-14 | |
| Osteopenia | skeletal | 50 % | 19008299 | 2024-05-14 | |
| Abnormal femoral head | skeletal | 50 % | 19008299 | 2024-05-14 | |
| Coxa valga deformation | skeletal | 50 % | 19008299 | 2024-05-14 | |
| Short limbs | multi | 50 % | 19008299 | 2024-05-14 | |
| Strabismus | nervous | 50 % | 19008299 | 2024-05-14 | |
| Midfacial hypoplasia | multi | 50 % | 19008299 | 2024-05-14 | |
| Vermis hypoplasia | nervous | 50 % | 19008299 | 2024-05-14 | |
| Mega cisterna magna | nervous | 50 % | 19008299 | 2024-05-14 | |
| Club foot | multi | 50 % | 19008299 | 2024-05-14 | |
| Cerebral atrophy | nervous | 50 % | 19008299 | 2024-05-14 | |
| Short stature | endocrine | 50 % | 19008299 | 2024-05-14 | |
| Cardiomyopathy | circulatory | 50 % | 19008299 | 2024-05-14 | |
| Camptodactyly | multi | 50 % | 19008299 | 2024-05-14 | |
| Small mouth | multi | 50 % | 19008299 | 2024-05-14 | |
| Hypertelorism | multi | 50 % | 19008299 | 2024-05-14 | |
| Hypospadias | integumentary | 50 % | 19008299 | 2024-05-14 | |
| Anemia | circulatory | 50 % | 19008299 | 2024-05-14 |
List of references:
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.
Renate Zeevaert, François Foulquier, Boyan Dimitrov, Ellen Reynders, Rita Van Damme-Lombaerts, Emil Simeonov, Wim Annaert, Gert Matthijs, Jaak Jaeken,
Human molecular genetics - Feb 2009