Phenotype #0000326480
| Individual ID |
00436300 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
cohesinopathy |
| Phenotype details |
no synophrys; depressed broad nasal bridge,thin lips; developmental delay, intellectual disability; scoliosis; gastro-intestinal malformation, cleft palate, renal malformation; failure to thrive; weight 3rd, length <3rd, OFC 10-25th; short stature; no microcephaly; motor delay; speech delay; no behavioral problems; no seizures; no hypertonia; hypotonia; no long curly eyelashes; no ptosis; hypertelorism; no anteverted nares; depressed/broad nasal bridge; bulbous nasal tip; low-set ears; microtia; dysmorphic ears; no long/smooth philtrum; thin upper lip; no downturned mouth; cleft lip/palate; no widely spaced teeth; no late-erupting teeth; no micrognathia; no hypoplastic nails; no hirsutism; no cutis marmorata; no myopia; no strabismus; no hearing loss; minimal patent foramen ovale, resolved itself; no pulmonary hypoplasia; no recurrent infections; no gastroesophageal reflux; no hypoplastic male genitalia; no cryptorchidism; single kidney; scoliosis; no rib fusion; no vertebral anomalies; no micromelia; no phocomelia; no 2-3 toe syndactyly; MRI brain ectopic posterior pituitary, short pituitary stalk; 11 ribs, scoliosis; ECG minimal patent foramen ovale, resolved itself. Echocardiogram normal at follow up visit. |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
5y3m (5 years, 3 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-08-31 23:02:18 +02:00 (CEST) |
| Date last edited |
N/A |
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