Phenotype #0000345754
| Individual ID |
00457261 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., no prenatal issues, birth 40w, SVD, weight 3550 g (75%), height 50 cm (28.85%), OFC 35 cm (44.44%); neonatal jaundice improved without phototherapy; never sat; never walked; no speech; poor eye contact and communication, non-verbal; arched eyebrows, thick eyebrows; hypertelorism; abnormal palpebral fissures; strabismus; ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; retrognathia; open mouth; Synophrys, single palmar crease; intellectual disability; hypotonia; weak motor strength; autistic behavior, self injurious behavior, bruxism; myoclonic seizures; no hepatomegaly; no liver dysfunction; intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no undescended testicles; no recurrent respiratory infections; no recurrent skin infections; MRI brain delayed myelination, mild wide extra axial spacer; |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
1y5m (1 year, 5 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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