cntnap1 Phenotypes

XB-GENEPAGE-963971

Gene Symbol: cntnap1 Gene Name: contactin associated protein 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (45 sources): Abnormal foot morphology, Areflexia, Arthrogryposis multiplex congenita, Babinski sign, CNS hypomyelination, Cachexia, Cerebellar atrophy, Cerebral atrophy, Decreased fetal movement, Dolichocephaly, Dystonia, EMG abnormality, Epicanthus, Facial diplegia, Fetal akinesia sequence, Flexion contracture, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Hand clenching, Hearing impairment, High palate, Hyperreflexia, Hypoplasia of the corpus callosum, Hyporeflexia, Hypotonia, Knee flexion contracture, Limb joint contracture, Limitation of joint mobility, Low-set ears, Microcephaly, Micrognathia, Oral-pharyngeal dysphagia, Paralysis, Polyhydramnios, Ptosis, Reduced tendon reflexes, Respiratory distress, Respiratory insufficiency, Seizure, Skeletal muscle atrophy, Small basal ganglia, Spasticity, Thick vermilion border, Visual impairment [+]
Mouse (25 sources): abnormal Purkinje cell morphology, abnormal action potential, abnormal axon morphology, abnormal cerebellar molecular layer, abnormal limb posture, abnormal myelin sheath morphology, abnormal node of Ranvier morphology, abnormal paranodal axoglial junction morphology, abnormal paranode morphology, abnormal resting posture, decreased body size, decreased locomotor activity, decreased survivor rate, hypermyelination, impaired balance, impaired limb coordination, impaired swimming, lethality at weaning, complete penetrance, lethality at weaning, incomplete penetrance, nervous system phenotype, paresis, premature death, reduced fertility, reduced male fertility, weakness [+]
View all ortholog results at Monarch