Phenotype #0000051857
| Individual ID |
00072151 |
| Associated disease |
CSCSC1 |
| Phenotype details |
decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), creases limbs (HP:?), elongated face (HP:0000300), hypertelorism (HP:0000316), bilateral epicanthic folds (HP:0000286), upslanting palpebral fissures (HP:0000582), microphthalmia (HP:0000568), strabismus (HP:0000486), wide nasal bridge (HP:0000431), aberrant teeth (HP:0006482), low-set posteriorly rotated ears (HP:0000368) with overfolded thick helices (HP:0000391), short neck (HP:0000470), widely spaced nipples (HP:0006610), hypospadias (HP:0000047), undescended testes (HP:0000028), second and third toe syndactyly (HP:0004691), intellectual disability, moderate (HP:0002342), unable to walk (HP:0002540), unable to speak (HP:0002371), hypoplastic vermis (HP:0001320), hypoplastic corpus callosum (HP:0002079), mild dilatation of ventricles (HP:0006956), deafness (HP:0000365), seizures (HP:0001250) and ureterocele with vesical reflux (HP:0008714 ) without impairment of the renal function (-HP:0012622) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
19y (19 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Jamie Zeegers |
| Database submission license |
No license selected |
| Created by |
Jamie Zeegers |
| Date created |
2016-05-30 11:09:49 +02:00 (CEST) |
| Date last edited |
2017-03-24 20:27:08 +01:00 (CET) |
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