Phenotype #0000345756
| Individual ID |
00457263 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., 1d-skeletal deformity, birth 40w, SVD, weight 1600 g (-3.7 SD); no neonatal jaundice; >10y-sit; not yet walking; 5y-single words; marked global developmental delay; eyebrows with synophrys; hypertelorism; deep set eyes; no strabismus; no ptosis; long philtrum; no thin upper lip; no tented mouth; no everted lower lip; pointed chin; no open mouth; Triangular face, absent radii with hand deformity, hemivertebrae, camptodactyly of both hands, dorsiflexed big toes bilateraly and single kidney; intellectual disability; central hypotonia, appendicular hypertonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; ADHD; 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; no undescended testicles; single kidney, grade 2 vesicoureteral reflux; no recurrent respiratory infections; no recurrent skin infections; MRI brain normal; ultrasound liver normal; |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
10y (10 years) |
| 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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