Phenotype #0000357568
| Individual ID |
00472773 |
| Associated disease |
RSTS |
| Diagnosis/Initial |
Rubinstein-Taybi syndrome |
| Diagnosis/Definite |
MRD26 |
| Phenotype details |
see paper; ..., short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; no speech; motor delay; autistic features; hypotonia; no epilepsy, two febrile seizures; spasticity; no attention-deficit hyperactivity disorder; behavioral issues; MRI brain structural brain anomaly; corpus callosum malformation; cerebellar malformation; small posterior fossa, small brainstem; down slanting palpebral fissures; short palpebral fissures; telecanthus; no strabismus; eye closure with smile; no synophrys; horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); prominent (high) nasal bridge; wide (broad) nasal bridge; convex nasal ridge; anteverted nares; low hanging columella; no short philtrum; no narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); small jaw; ear malformation or low-set ears; mild synophrys, mildly overhanging nasal tip, narrow nasal ridge, thin lips, blepharophimosis, deep set eyes; broad terminal phalanges (thumbs/halluces); kyphosis/scoliosis; tight heel cords; normal hallux; persistent toe walking; bilateral patellar dislocation; symphalangism |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
15y06m (15 years, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2026-02-27 16:16:22 +01:00 (CET) |
| Date last edited |
2026-02-27 17:15:47 +01:00 (CET) |
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