IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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23
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OrphanetNr:
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OMIM Id:
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615966
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000054)
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Micropenis |
rare [HPO:skoehler]
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257 / 7739
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2
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(HPO:0011220)
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Prominent forehead |
rare [HPO:skoehler]
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137 / 7739
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3
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(HPO:0011107)
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Recurrent aphthous stomatitis |
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13 / 7739
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4
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(HPO:0000252)
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Microcephaly |
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832 / 7739
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5
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(HPO:0000331)
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Short chin |
rare [HPO:skoehler]
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33 / 7739
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6
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(HPO:0000431)
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Wide nasal bridge |
rare [HPO:skoehler]
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290 / 7739
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7
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(HPO:0000219)
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Thin upper lip vermilion |
rare [HPO:skoehler]
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112 / 7739
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8
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(HPO:0000343)
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Long philtrum |
rare [HPO:skoehler]
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262 / 7739
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9
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(HPO:0000490)
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Deeply set eye |
rare [HPO:skoehler]
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131 / 7739
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10
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(HPO:0000505)
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Visual impairment |
rare [HPO:skoehler]
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297 / 7739
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11
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(HPO:0000407)
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Sensorineural hearing impairment |
rare [HPO:skoehler]
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524 / 7739
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12
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(HPO:0000369)
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Low-set ears |
rare [HPO:skoehler]
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372 / 7739
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13
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(HPO:0001250)
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Seizures |
rare [HPO:skoehler]
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1245 / 7739
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14
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(HPO:0010557)
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Overlapping fingers |
rare [HPO:skoehler]
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9 / 7739
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15
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(HPO:0001511)
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Intrauterine growth retardation |
rare [HPO:skoehler]
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358 / 7739
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16
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(HPO:0002783)
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Recurrent lower respiratory tract infections |
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8 / 7739
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17
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(HPO:0004430)
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Severe combined immunodeficiency |
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16 / 7739
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18
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(HPO:0001302)
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Pachygyria |
rare [HPO:skoehler]
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60 / 7739
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19
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(HPO:0002079)
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Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
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161 / 7739
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20
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(HPO:0001320)
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Cerebellar vermis hypoplasia |
rare [HPO:skoehler]
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57 / 7739
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21
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(HPO:0012444)
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Brain atrophy |
rare [HPO:skoehler]
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24 / 7739
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22
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(HPO:0009879)
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Cortical gyral simplification |
rare [HPO:skoehler]
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24 / 7739
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23
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(HPO:0003429)
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CNS hypomyelination |
rare [HPO:skoehler]
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21 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |