Phenotype #0000230296
| Individual ID |
00303212 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., severe global developmental delay; pronounced muscular hypotonia; no head control, no sitting without support, spontaneous movement of limbs, limited against gravity; no speech; one episode of electric status seizures; EEG abnormal; reduced pain sensation; no self-mutilation; crying without tears; ECG-no reduced heart rate variability; reduced sweating; fever without focus/temperature dysregulation; no repeated episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; hepatomegaly, distended abdomen; no skeletal abnormalities, osteopenia, harlequin eye, pubic delayed ossification; no genital abnormalities; hearing loss; no eye abnormalities; high and broad forehead, temporal narrowing, depressed nasal bridge, short and broad nose, small mouth; dilated cardiomyopathy; increased intra-and extra-axial cerebrospinal fluid spaces, ega cisterna magna; no delayed myelination; |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
02y05m (2 years, 5 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-06-08 15:20:20 +02:00 (CEST) |
| Date last edited |
2020-08-23 10:58:55 +02:00 (CEST) |
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