Phenotype #0000319659
| Individual ID |
00428775 |
| Associated disease |
ID |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
- |
| Inheritance |
Familial, autosomal recessive |
| Phenotype details |
see paper; ..., birth 40w, weight 2,300g (-2.48 SDS); 6y6m-height 97cm (-5.9 SDS); 6y6m-OFC 48.7cm (-1.73 SDS); no cleft palate; no heart defects; severe 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; joint hyperextensibility; joint stiffness; no resistant to sunburns; no hepatomegaly at infancy; no splenomegaly at infancy; leukopenia; no AST/ALT increase; recurrent infections respiratory, urinary tract;
hypoplastic schiopubic rami (HP:0008822); developmental stagnation at onset seizures (HP:0006834); infection associated lymphopenia (HP:0410256); no transient lymphopenia (-HP:0410255); developmental stagnation (HP:0007281); 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); short stature (-5.0 SD); no microcephaly; facial abnormalities; wide nasal bridge; long philtrum; anteverted nares; large ears; epicanthal folds; narrow palpebral fissures; thick lower lip vermilion; broad philtrum; lymphopenia; recurrent infections; ischiopubic hypoplasia; neurological abnormalities; seizures; seizure triggered by fever; psychomotor development; stagnates.; mental decline; no behavioral problems; learning disabilities; global brain atrophy on mri; no microcephaly; limited knee extension; dysgenesis hippocampus |
| Age/Examination |
09y (9 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 17:03:07 +01:00 (CET) |
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