Phenotype #0000345753
| Individual ID |
00457260 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., no prenatal issues, birth 40w, SVD, weight 3200 g (20%), height 52 cm (67.31%), OFC 36 cm (75%); neonatal jaundice; 18m-sit; not yet walking; no speech; moderate global developmental delay; arched eyebrows; hypotelorism; abnormal palpebral fissures; strabismus; no ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; micrognathia; open mouth; Bilateral epicanthus, high arch palate, tongue tie, metopic craniosynostosis, small teeth, contracture of fingers; intellectual disability; mild hypotonia; mild motor strength; no movement abnormalities; mild autistic behaviors; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; undescended testicles; no recurrent respiratory infections; no recurrent skin infections; MRI brain mild right ventriculomegaly prominent sylvian fissure; |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
2y2m (2 years, 2 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 |
2024-11-04 09:10:12 +01:00 (CET) |
| Date last edited |
N/A |
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