Details of QDPR gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| QDPR | DHPR | P09417 | DHPR_HUMAN | 5860
| Q9H3M5
| 1HDR
1HDR | BH4-deficient |
Phenotypes
Abnormal axial skeleton morphology, Abnormal emotion/affect behavior, Abnormal muscle tone, Abnormality of amino acid metabolism, Abnormality of aromatic amino acid family metabolism, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of phenylalanine metabolism, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of temperature regulation, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the esophagus, Abnormality of the forebrain, Abnormality of the gastrointestinal tract, Abnormality of the head, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the skull, Age of onset, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Cerebral calcification, Chorea, Choreoathetosis, Cognitive impairment, Dysphagia, Dystonia, Ectopic calcification, Episodic fever, Fever, Global developmental delay, Hyperphenylalaninemia, Hypertonia, Infantile onset, Intellectual disability, Involuntary movements, Irritability, Mental deterioration, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Myoclonus, Onset, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Progressive neurologic deterioration, Seizures, Tremor, Variable expressivity.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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