| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000648 | Optic atrophy | |
Show
|
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
|
| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
Show
|
| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
Show
|
| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
Show
|
| HP:0002352 | Leukoencephalopathy | |
Show
|
| HP:0007141 | Sensorimotor neuropathy | |
Show
|
| HP:0025550 | Elevated circulating ribitol concentration | "An increase above the normal concentration of ribitol in the blood." [] |
Show
|
| HP:0410055 | Decreased level of erythritol in urine | "A decrease in the level of erythritol in the urine." [PMID:14988808] |
Show
|
| HP:0410056 | Decreased level of erythritol in CSF | "A decrease in the level of erythritol in the cerebrospinal fluid." [PMID:14988808] |
Show
|
| HP:0410057 | Increased level of D-threitol in plasma | "An increase in the level of D-threitol in the plasma." [PMID:14988808] |
Show
|
| HP:0410058 | Increased level of D-threitol in CSF | "An increase in the level of D-threitol in the cerebrospinal fluid." [PMID:14988808] |
Show
|
| HP:0410059 | Increased level of D-threitol in urine | "An increase in the level of D-threitol in the urine." [PMID:14988808] |
Show
|
| HP:0410070 | Increased level of ribitol in urine | "An increase in the level of ribitol in the urine." [PMID:14988808] |
Show
|
| HP:0410071 | Increased level of ribitol in CSF | "An increase in the level of ribitol in the cerebral spinal fluid." [PMID:14988808] |
Show
|
| HP:0410072 | Increased level of ribose in urine | "An increase in the level of ribose in the urine." [PMID:14988808] |
Show
|
| HP:0410073 | Increased level of ribose in CSF | "An increase in the level of ribose in the cerebrospinal fluid." [PMID:14988808] |
Show
|
| HP:0410074 | Increased level of xylitol in urine | "An increase in the level of xylitol in the urine." [PMID:14988808] |
Show
|
| HP:0410075 | Increased level of xylitol in CSF | "An increase in the level of xylitol in the cerebrospinal fluid." [PMID:14988808] |
Show
|
