| Individual ID |
00428774 |
| Associated disease |
ID |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
- |
| Inheritance |
Familial, autosomal recessive |
| Phenotype details |
see paper; ..., birth 37w, weight 2,140g (-1.6 SDS); 2y5m-height 91cm (-1 SDS); 2y5m-OFC 47.3cm (-1.5 SDS); no cleft palate; symmetrical palate; no heart defects; moderate developmental delay; seizures; hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; no joint dislocation; no joint hyperextensibility; no joint stiffness; resistant to sunburns; hepatomegaly at infancy; splenomegaly at infancy; no leukopenia; no AST/ALT increase; recurrent infections respiratory; hypoplastic schiopubic rami (HP:0008822); developmental stagnation at onset seizures (HP:0006834); no infection associated lymphopenia (-HP:0410256); transient lymphopenia (HP:0410255); decreased proportion memory B cells (HP:0030374); developmental stagnation (HP:0007281); no large fleshy ears (-HP:0002265); hypoplastic pubic bone (HP:0003173); no facial erythema (-HP:0001041); narrow palpebral fissure (HP:0045025); almond-shaped palpebral fissure (HP:0007874); progressive neurologic deterioration (HP:0002344); abnormal shape palpebral fissure (HP:0200005); aplasia/hypoplasia involving the pelvis (HP:0009103); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839) |
| Age/Examination |
04y (4 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-01-10 16:33:32 +01:00 (CET) |
| Date last edited |
2023-01-10 17:03:31 +01:00 (CET) |
