|
|
(HPO:0001315) | Reduced tendon reflexes | Very frequent [Orphanet] | 160 / 7739 | |||
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|
(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 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:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
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|
(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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|
(HPO:0001744) | Splenomegaly | Very frequent [Orphanet] | 337 / 7739 | |||
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|
(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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|
(HPO:0001433) | Hepatosplenomegaly | 78 / 7739 | ||||
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|
(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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|
(OMIM) | Normal steroid sulfatase | 2 / 7739 | ||||
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|
(HPO:0100543) | Cognitive impairment | Very frequent [Orphanet] | 230 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |