| 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:0000083 | Renal failure | |
Show
|
| HP:0000089 | Renal hypoplasia | |
Show
|
| HP:0000107 | Renal cysts | |
Show
|
| HP:0000110 | Renal dysplasia | |
Show
|
| HP:0000365 | Hearing loss | |
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:0001254 | Lethargy | |
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:0001265 | Hyporeflexia | |
Show
|
| HP:0001284 | Areflexia | |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
Show
|
| HP:0001308 | Tongue fasciculations | |
Show
|
| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
Show
|
| HP:0001397 | Hepatic steatosis | |
Show
|
| HP:0001410 | Decreased liver function | |
Show
|
| HP:0001522 | Death in infancy | |
Show
|
| HP:0001638 | Cardiomyopathy | |
Show
|
| HP:0001947 | Renal tubular acidosis | |
Show
|
| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0002120 | Cerebral cortical atrophy | |
Show
|
| HP:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002490 | Increased CSF lactate | "Increased concentration of lactate in the cerebrospinal fluid." [HPO:curators] |
Show
|
| HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
Show
|
| HP:0003198 | Myopathy | |
Show
|
| HP:0003429 | Hypomyelination | |
Show
|
| HP:0003577 | Onset at birth | |
Show
|
| HP:0003828 | Variable expressivity | |
Show
|
| HP:0006829 | Severe muscular hypotonia | "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] |
Show
|
| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
Show
|
| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
Show
|
| HP:0012448 | Delayed myelination | "`Delayed` (PATO:0000502) `myelination` (GO:0042552)." [ORCID:0000-0001-5208-3432] |
Show
|
