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Symbol
Name
ID

Pah
phenylalanine hydroxylase
MGI:97473

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Lower limb spasticity

Cerebral calcification

Abnormal cerebral white matter morphology

Ataxia

Tremor

EEG abnormality

Depression

Irritability

Anxiety

Psychosis

Atypical behavior

Aggressive behavior

Compulsive behaviors

Hyperactivity

Attention deficit hyperactivity disorder

Self-mutilation

Dementia

Short attention span

Intellectual disability

Intellectual disability, severe

Hyperreflexia

Encephalopathy

Specific learning disability

Seizure

Disease(s) Associated with PAH

phenylketonuria

Mouse Phenotypes		environmentally induced seizures	audiogenic seizures	abnormal brain morphology	decreased brain weight	abnormal corpus callosum morphology	abnormal cerebral cortex morphology	dysmyelination	abnormal synaptic neurotransmitter level
Availability	Mouse Genotype	environmentally induced seizures	audiogenic seizures	abnormal brain morphology	decreased brain weight	abnormal corpus callosum morphology	abnormal cerebral cortex morphology	dysmyelination	abnormal synaptic neurotransmitter level
	Pah^em1Skym/Pah^em1Skym
	Pah^enu2/Pah^enu2
	Pah^m1Btlr/Pah^m1Btlr

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23