| 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: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: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:0001410 | Decreased liver function | |
Show
|
| HP:0001433 | Hepatosplenomegaly | |
Show
|
| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0002506 | Diffuse cerebral atrophy | |
Show
|
| HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [HPO:curators] |
Show
|
| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
Show
|
| HP:0003593 | Early onset | |
Show
|
| HP:0005484 | Microcephaly, postnatal | |
Show
|
| HP:0010818 | Tonic seizures | "A type of `seizure` (HP:0001250) characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started." [HPO:probinson] |
Show
|
| HP:0010837 | Decreased serum ceruloplasmin | "A kind of `Abnormality of copper homeostasis` (HP:0010836) related to a `decreased concentration` (PATO:0001163) of `ceruloplasmin` (PR:000005794) in the `blood` (FMA:9670)." [HPO:probinson] |
Show
|
| HP:0011967 | Hypocupremia | "A reduced concentration of `copper` (CHEBI:28694) in the `blood` (FMA:9670)." [HPO:probinson] |
Show
|
| HP:0012506 | Small pituitary gland | "An abnormally decreased size of the `pituitary gland` (FMA:13889)." [ORCID:0000-0001-5208-3432] |
Show
|
