Richards-Rundle syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RICHARDS-RUNDLE SYNDROME ATAXIA-DEAFNESS-RETARDATION SYNDROME WITH KETOACIDURIA Ketoaciduria - intellectual deficit - ataxia - deafness |
| Number of Symptoms | 33 |
| OrphanetNr: | 1399 |
| OMIM Id: |
245100
|
| ICD-10: |
G60.2 |
| UMLs: |
C0796136 |
| MeSH: |
C535674 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare hereditary ataxia
-Rare genetic disease -Rare neurologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000786) | Primary amenorrhea | 61 / 7739 | ||||
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(HPO:0000135) | Hypogonadism | 89 / 7739 | ||||
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(HPO:0002919) | Ketonuria | 18 / 7739 | ||||
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(HPO:0000268) | Dolichocephaly | Occasional [Orphanet] | 144 / 7739 | |||
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(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | Frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0000718) | Aggressive behavior | 109 / 7739 | ||||
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(HPO:0002300) | Mutism | 28 / 7739 | ||||
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(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0008187) | Absence of secondary sex characteristics | 5 / 7739 | ||||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0001763) | Pes planus | 176 / 7739 | ||||
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(HPO:0004349) | Reduced bone mineral density | Occasional [Orphanet] | 165 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0001387) | Joint stiffness | Occasional [Orphanet] | 322 / 7739 | |||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
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(OMIM) | Peripheral muscle wasting | 1 / 7739 | ||||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Secondary sex characteristics underdeveloped | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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