spr Phenotypes

Phenotypes

XB-GENEPAGE-977813

Gene Symbol: spr Gene Name: sepiapterin reductase

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (35 sources): Abnormality of the nose, Aggressive behavior, Ataxia, Atypical behavior, Axial hypotonia, Bradykinesia, Cerebral palsy, Choreoathetosis, Cognitive impairment, Delayed speech and language development, Drowsiness, Dysarthria, Dystonia, Global developmental delay, Growth delay, Hyperactivity, Hyperhidrosis, Hyperreflexia, Hypomimic face, Intellectual disability, Limb hypertonia, Microcephaly, Motor delay, Muscle weakness, Oculogyric crisis, Oculomotor apraxia, Ptosis, Rigidity, Seizure, Sleep abnormality, Small for gestational age, Spasticity, Temperature instability, Transient hyperphenylalaninemia, Tremor [+]
Mouse (12 sources): abnormal dopaminergic neuron morphology, abnormal enzyme/coenzyme level, abnormal locomotor activation, abnormal synaptic neurotransmitter level, decreased circulating insulin-like growth factor I level, decreased dopamine level, decreased locomotor activity, decreased noradrenaline level, decreased phenylalanine level, decreased serotonin level, premature death, prenatal lethality, incomplete penetrance [+]
View all ortholog results at Monarch