|
Symbol Name ID |
Nphp1
nephronophthisis 1 (juvenile) homolog (human) MGI:1858233 |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormality of the sense of smell |
Aganglionic megacolon |
Oculomotor apraxia |
Photophobia |
Spasticity |
Elongated superior cerebellar peduncle |
Thickened superior cerebellar peduncle |
Aplasia/Hypoplasia of the cerebellar vermis |
Cerebellar vermis hypoplasia |
Molar tooth sign on MRI |
Ataxia |
Abnormality of speech or vocalization |
Delayed speech and language development |
Nasal dysarthria |
Depression |
Emotional lability |
Anxiety |
Atypical behavior |
Autism |
Polydipsia |
Cognitive impairment |
Short attention span |
Intellectual disability |
Intellectual disability, mild |
Postural instability |
Neurodevelopmental delay |
Global developmental delay |
Delayed gross motor development |
Specific learning disability |
Seizure |
| Disease(s) Associated with NPHP1 | ||||||||||||||||||||||||||||||
| Bardet-Biedl syndrome | ||||||||||||||||||||||||||||||
| Joubert syndrome 4 | ||||||||||||||||||||||||||||||
| nephronophthisis 1 | ||||||||||||||||||||||||||||||
| Senior-Loken syndrome |
| Mouse Phenotypes | photoreceptor inner segment degeneration |
photoreceptor outer segment degeneration |
|
| Availability | Mouse Genotype | ||
| Nphp1em1Lisu/Nphp1em1Lisu | |||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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