Phenotype #0000319657
| Individual ID |
00428773 |
| Associated disease |
ID |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
- |
| Inheritance |
Familial, autosomal recessive |
| Phenotype details |
see paper; ..., birth 36w, weight 2,767g (0.05 SDS); 13y-height 150cm (-1.5 SDS); 13y-OFC 54cm (-0.59 SDS); cleft palate; asymmetrical palate; no heart defects; moderate developmental delay; no seizures; no hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; no enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; joint dislocation; joint hyperextensibility; no joint stiffness; resistant to sunburns; no hepatomegaly at infancy; splenomegaly at infancy; leukopenia; no AST/ALT increase; delayed closure of ischiopubic rami; recurrent infections respiratory, skin; hypoplastic schiopubic rami (HP:0008822); no developmental stagnation at onset seizures (-HP:0006834); infection associated lymphopenia (HP:0410256); reduced proportion of naive T cells (HP:0031397); increased lymphocyte apoptosis (HP:0030887); transient lymphopenia (HP:0410255); decreased proportion memory B cells (HP:0030374); abnormal B cell subset distribution (HP:0025539); recurrent joint dislocation (HP:0031869); developmental stagnation (HP:0007281); large fleshy ears (HP:0002265); hypoplastic pubic bone (HP:0003173); abnormal B cell count (HP:0010975); 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); decreased circulating total IgM (HP:0002850); aplasia/hypoplasia involving the pelvis (HP:0009103); abnormal T cell subset distribution (HP:0025540); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839); lymphopenia (HP:0001888) |
| Age/Examination |
19y (19 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 17:03:58 +01:00 (CET) |
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