| Individual ID |
00303214 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., severe global developmental delay; severe muscular hypotonia; no sitting unsupported; no speech; febrile seizures; EEG abnormal; no self-mutilation; no crying without tears; ECG-no reduced heart rate variability; no reduced sweating; intermittentt fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; growth hormone deficiency; no (pan)hypopituitarism; low hemoglobin; thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; hepatomegaly, liver biopsy with iron overload in hepatocytes and cholestasis; 2nd overlaps 1st toe, rotational subluxation C1- C2; no genital abnormalities; hearing loss; esotropia; widely spaced nipples, hirsutism; increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
01y04m (1 year, 4 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 10:56:20 +02:00 (CEST) |
