Deafness - small bowel diverticulosis - neuropathy
General Information (adopted from Orphanet):
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Synonyms, Signs:
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groll-hirschowitz syndrome
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Number of Symptoms
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25
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OrphanetNr:
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3217
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OMIM Id:
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221400
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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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Autosomal recessive inheritance
[Omim]
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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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Syndromic genetic deafness
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare otorhinolaryngologic disease
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1
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(HPO:0000600)
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Abnormality of the pharynx |
Frequent [Orphanet]
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22 / 7739
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2
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(HPO:0000508)
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Ptosis |
Frequent [Orphanet]
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459 / 7739
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3
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(HPO:0000597)
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Ophthalmoparesis |
Occasional [Orphanet]
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71 / 7739
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4
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(HPO:0008527)
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Congenital sensorineural hearing impairment |
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165 / 7739
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5
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(HPO:0000407)
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Sensorineural hearing impairment |
Very frequent [Orphanet]
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524 / 7739
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6
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(HPO:0008625)
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Severe sensorineural hearing impairment |
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150 / 7739
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7
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(HPO:0002167)
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Neurological speech impairment |
Frequent [Orphanet]
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308 / 7739
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8
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(HPO:0009830)
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Peripheral neuropathy |
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206 / 7739
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9
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(HPO:0004374)
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Hemiplegia/hemiparesis |
Very frequent [Orphanet]
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158 / 7739
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10
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(HPO:0001315)
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Reduced tendon reflexes |
Frequent [Orphanet]
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160 / 7739
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11
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(HPO:0004279)
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Short palm |
Occasional [Orphanet]
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323 / 7739
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12
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(HPO:0002630)
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Fat malabsorption |
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11 / 7739
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13
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(HPO:0002256)
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Small bowel diverticula |
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6 / 7739
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14
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(HPO:0005229)
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Jejunoileal ulceration |
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2 / 7739
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15
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(HPO:0002024)
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Malabsorption |
Very frequent [Orphanet]
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142 / 7739
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16
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(HPO:0002592)
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Gastric ulcer |
Very frequent [Orphanet]
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39 / 7739
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17
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(HPO:0004326)
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Cachexia |
Very frequent [Orphanet]
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71 / 7739
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18
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(HPO:0000995)
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Melanocytic nevus |
Occasional [Orphanet]
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63 / 7739
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19
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(HPO:0001649)
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Tachycardia |
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53 / 7739
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20
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(HPO:0003075)
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Hypoproteinemia |
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27 / 7739
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21
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(HPO:0003457)
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EMG abnormality |
Very frequent [Orphanet]
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78 / 7739
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22
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(OMIM)
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Carotid sinus reflex loss |
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1 / 7739
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23
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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24
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(OMIM)
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Gastric motility loss |
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1 / 7739
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25
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(OMIM)
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Progressive neuropathy |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |