Phenotype #0000023270
| Individual ID |
00027197 |
| Associated disease |
SRS;RSS |
| Diagnosis/Initial |
SRS-like |
| Diagnosis/Definite |
clinical SRS (Netchine Harbison-Score 5/6 |
| Phenotype details |
birth 41wg, length 46.5cm (-2.1 SD), weight 2.2 kg (-2.7 SD), OFC 32.5cm (-0.7 SD); karyotype 46XY; present height 120.4cm (-2.3 SD), present weight 26.5kg (-0.7 SD), BMI 18.3 (+1.0 SD), present occipitofrontal circumference 51.5cm (-0.9 SD); speech delayed (HP:0000750); small hands (HP:0200055); single palmar crease (HP:0000954); brachydactyly (HP:000156); clinodactyly (HP:0030084); joint hypermobility (HP:0001382); ear abnormality (HP:0000598); irregular teeth (HP:0040079); no precocious puberty (-HP:0000826); no intellectual disability (-HP:0001249); muscular hypotonia (HP:0001252); dysmorphic face (HP:0001999); prominent forehead (HP:0011220); congenital macrocephaly (HP:0004488); growth retardation (postnatal); small for gestational age (HP:0001518) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
09y06m (9 years, 6 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 |
2026-08-10 13:36:31 +02:00 (CEST) |
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