| Individual ID |
00081460 |
| Associated disease |
ID |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Isolated (sporadic) |
| Phenotype details |
Abnormality of the cardiovascular system (HP:0001626); truncus arteriosus (HP:0001660); Ventricular septal defect (HP:0001652); atrial septal defect (HP:0001631); Hypoplastic aortic arch (HP:0012304); Patent ductus arteriosus (HP:0001643); Abnormality of the kidney (HP:0000077); Crossed fused renal ectopia (HP:0004736); Abnormality of male external genitalia (HP:0000032); Hypospadias (HP:0000047); Abnormality of the upper limb (HP:0002817); Aplasia/Hypoplasia of the thumb (HP:0009601); Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252); Behavioral abnormality (HP:0000708); Hearing impairment (HP:0000365); Feeding difficulties (HP:0011968); Abnormality of the eye (HP:0000478); Strabismus (HP:0000486); Abnormality of the outer ear (HP:0000356); Low-set ears (HP:0000369); Posteriorly rotated ears (HP:0000358); Microretrognathia (HP:0000308); Abnormality of the mandible (HP:0000277); Recurrent pneumonia (HP:0006532); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); speech delay (HP:0000750) |
| Age/Examination |
08y04m (8 years, 4 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
1d |
| Protein |
- |
| Owner name |
Sébastien Küry |
| Database submission license |
No license selected |
| Created by |
Sébastien Küry |
| Date created |
2016-10-14 09:48:30 +02:00 (CEST) |
| Date last edited |
2020-05-12 12:33:06 +02:00 (CEST) |
