Phenotype #0000230291
| Individual ID |
00303207 |
| Associated disease |
CATMANS |
| Phenotype details |
short stature (HP:0004322) -4.6 SD; vertebral anomalies (HP:0003468), butterfly vertebra T8; no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); other limb defects (HP:0040068), long thumbs; no Pierre Robin sequence with cleft palate (-HP:0000201); no microretrognathia (-HP:0000308); no renal malformation (-HP:0012210); congenital heart defect (HP:0001627), Tetralogy of Fallot, anomalous origin left coronary artery from pulmonary artery; developmental delay (HP 0001263); severe muscular hypotonia (HP:0001252); failure to thrive (HP:0001531), PEG feeding; microcephaly (HP:0000252) -6.4 SD; facial dysmorphism (HP:0001999); no joint hypermobility (-HP:0001382); sensorineural hearing loss (HP:0000407); malformation of cochlea and semicircular canals (HP:0008554, HP:0011380); bilateral single transverse palmar crease |
| Diagnosis/Initial |
Catel-Manzke syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
3y (3 years) |
| 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 |
2020-06-08 13:43:05 +02:00 (CEST) |
| Date last edited |
N/A |
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