| 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:0000206 | Glossitis | "Inflammation of the tongue." [HPO:sdoelken] |
Show
|
| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
Show
|
| HP:0000219 | Thin upper lip | |
Show
|
| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
Show
|
| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
Show
|
| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
Show
|
| HP:0000988 | Skin rash | |
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:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001873 | Thrombocytopenia | |
Show
|
| HP:0001875 | Neutropenia | |
Show
|
| HP:0001876 | Pancytopenia | |
Show
|
| HP:0001889 | Megaloblastic anemia | |
Show
|
| HP:0001980 | Megaloblastic bone marrow | |
Show
|
| HP:0002156 | Homocystinuria | |
Show
|
| HP:0002160 | Homocystinemia | |
Show
|
| HP:0002311 | Incoordination | |
Show
|
| HP:0002376 | Developmental regression | |
Show
|
| HP:0002912 | Methylmalonic acidemia | |
Show
|
| HP:0003145 | Decreased adenosylcobalamin (ADOCBL) | |
Show
|
| HP:0003153 | Cystathioninuria | |
Show
|
| HP:0003223 | Decreased methylcobalamin (MECBL) | |
Show
|
| HP:0003286 | Cystathioninemia | |
Show
|
| HP:0003524 | Decreased methionine synthase (MTR, 156570) activity | |
Show
|
| HP:0003593 | Early onset | |
Show
|
| HP:0008551 | Underdeveloped ears | |
Show
|
| HP:0008872 | Feeding problems in infancy | |
Show
|
| HP:0010280 | Stomatitis | "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [HPO:curators] |
Show
|
| HP:0012120 | Methylmalonic aciduria | "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the urine." [HPO:probinson] |
Show
|
