Phenotype #0000326475
| Individual ID |
00436295 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
cohesinopathy |
| Phenotype details |
synophrys; depressed broad nasal bridge,high palate,widely spaced teeth; developmental delay, intellectual disability; autistic like, aggression; seizures, hirsutism, major eye malformation; no failure to thrive; weight 88th, length 11th, OFC 25-50th; no short stature; no microcephaly; motor delay; speech delay; autism spectrum disorder; behavioral problems; seizures; no hypertonia; hypotonia; no brachycephaly; no long curly eyelashes; no ptosis; no hypertelorism; no anteverted nares; depressed/broad nasal bridge; no bulbous nasal tip; no low-set ears; no microtia; no dysmorphic ears; no long/smooth philtrum; high arched palate; no thin upper lip; no downturned mouth; no cleft lip/palate; widely spaced teeth; no late-erupting teeth; no micrognathia; no short neck; no hypoplastic nails; hirsutism; no hairline; no cutis marmorata; no myopia; strabismus , exotropia; no hearing loss; no low-pitched, growling cry in infancy; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no recurrent infections; no small nipples; no gastroesophageal reflux; no scoliosis; no rib fusion; no vertebral anomalies; no limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; no single transverse palmar crease; no 2-3 toe syndactyly; MRI brain moderately small optic nerves and chiasm, mild diffuse thinning of the corpus callosum, mild prominence of the left lateral ventricle, likely reflecting mild left-sided periventricular white matter volume loss or hypogenesis. 4. Mildly small pons.; ECG normal |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y2m (4 years, 2 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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