ap3b2 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (158)

Interactants (6)

XB-GENEPAGE-1013376

Gene Symbol: ap3b2 Gene Name: adaptor related protein complex 3 subunit beta 2

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (54 sources): Abnormal corpus callosum morphology, Abnormal involuntary eye movements, Abnormal myelination, Abnormality of coordination, Abnormality of vision, Absent speech, Ataxia, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Brain atrophy, Cerebellar atrophy, Cerebral atrophy, Decreased fetal movement, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dyskinesia, EEG with multifocal slow activity, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High forehead, Hypodontia, Hypoplasia of the corpus callosum, Hyporeflexia, Hypsarrhythmia, Impulsivity, Intellectual disability, Involuntary movements, Limb hypertonia, Mental deterioration, Microcephaly, Myoclonus, Nystagmus, Optic atrophy, Poor eye contact, Poor head control, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Rod-cone dystrophy, Seizure, Short stature, Spasticity, Status epilepticus, Tremor, Unsteady gait [+]
Mouse (10 sources): abnormal circulating alkaline phosphatase level, abnormal involuntary movement, abnormal locomotor behavior, abnormal mean corpuscular hemoglobin, increased circulating alkaline phosphatase level, increased circulating iron level, increased mean corpuscular hemoglobin, increased or absent threshold for auditory brainstem response, integument phenotype, vision/eye phenotype
View all ortholog results at Monarch