| Individual ID |
00472778 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
MRD26 |
| Phenotype details |
no short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; speech-language disability; no motor delay; autistic features; no epilepsy; no spasticity; no attention-deficit hyperactivity disorder; impulsive behavior when frustated; FLAIR hyperintesity, occipital gliosis/artefact; no down slanting palpebral fissures; no short palpebral fissures; no telecanthus; no strabismus; no synophrys; horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); prominent (high) nasal bridge; no wide (broad) nasal bridge; no convex nasal ridge; no anteverted nares; no low hanging columella; short philtrum; narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); normal jaw; no ear malformation or low-set ears; broad terminal phalanges (thumbs/halluces); normal hallux; bilateral 5th toe clinodactyly |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
3y9m (3 years, 9 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 17:23:00 +01:00 (CET) |
| Date last edited |
N/A |
