| Individual ID |
00027198 |
| Associated disease |
SRS;RSS |
| Diagnosis/Initial |
SRS-like |
| Diagnosis/Definite |
clinical SRS (Netchine Harbison-Score 5/6 |
| Growth/Prenatal |
small |
| Growth/Postnatal |
growth retardation (postnatal) |
| Head/Size |
macrocephaly congenital |
| Asymmetry |
asymmetric growth |
| Abdominal/Symptoms |
nr |
| Phenotype details |
karyotpe 46XX, birth length 36.5cm (-6.0 SD), birth weight 1.2 kg (-4.6 SD), birth occipitofrontal circumference 30.0 cm (-2.0 SD); menarche 8y8m (normal 12.3y +/-1.3y); present height 125.5cm (-1.0 SD), present weight 22.3kg (-1.2 SD), BMI 14.2 (-1.1 SD), present occipitofrontal circumference 50.3cm (-1.5 SD); recurrent otitis media (HP:0000403); small hands (HP:0200055); no single palmar crease (-HP:0000954); no brachydactyly (-HP:000156); clinodactyly (HP:0030084); puberty, precocious (HP:0000826); no intellectual disability (-HP:0001249); no muscular hypotonia (-HP:0001252); dysmorphic face (HP:0001999); prominent forehead (HP:0011220) |
| Inheritance |
Isolated (sporadic) |
| Birth_Details |
37w |
| Age/Examination |
09y02m (9 years, 2 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2014-12-28 16:48:57 +01:00 (CET) |
| Date last edited |
2025-02-03 10:58:44 +01:00 (CET) |
