Phenotype #0000278301
| Individual ID |
00384516 |
| Associated disease |
NDD |
| Diagnosis/Initial |
global developmental delay, hypotonia, failure to thrive |
| Diagnosis/Definite |
MRD26 |
| Phenotype details |
no low birth weight; short stature; no microcephaly; feeding difficulties; global developmental delay/intellectual disability; generalized hypotonia; no structural brain anomaly; cerebral palsy, spasticity, high muscle tone; no kyphosis/scoliosis; no arthrogryposis/shallow palmar creases; no tight heel cords; no hernia umbilicalis; patent foramen ovale; no highly arched eyebrows; no hypertelorism; no proptosis; short palpebral fissures; no upslanting palpebral fissures; no ptosis; no epicanthal fold; strabismus; no prominent nasal tip; no anteverted nares; no deep and/or broad nasal bridge; no short and/or upturned philtrum; no micrognathia/retrognatia; no low-set ears; no earpit; no narrow mouth; narrow and downslanting palpebral fissures, short nose, dentition delay, hypermetropy, dysphagia, sleep disorder |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
16m |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Alexander Groffen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-09-29 14:45:41 +02:00 (CEST) |
| Date last edited |
N/A |
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