smarcc2 Phenotypes

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Phenotypes

Gene Literature (5)

Nucleotides (179)

Interactants (381)

XB-GENEPAGE-490674

Gene Symbol: smarcc2 Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (71 sources): Abnormal cardiovascular system morphology, Abnormal clavicle morphology, Abnormal hip bone morphology, Abnormal intervertebral disk morphology, Abnormality of the dentition, Aggressive behavior, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the distal phalanx of the 5th toe, Aplasia/Hypoplasia of the patella, Bilateral single transverse palmar creases, Cataract, Cleft palate, Coarse facial features, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Ectopic kidney, Eczematoid dermatitis, Elbow dislocation, Epicanthus, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hernia, Hydronephrosis, Hyperactivity, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Hypotonia, Intellectual disability, Intrauterine growth retardation, Kyphosis, Lacrimation abnormality, Long eyelashes, Microcephaly, Nystagmus, Partial agenesis of the corpus callosum, Poor suck, Ptosis, Recurrent respiratory infections, Renal hypoplasia/aplasia, Scoliosis, Seizure, Self-injurious behavior, Short distal phalanx of finger, Short philtrum, Short stature, Sleep disturbance, Slow-growing hair, Sparse scalp hair, Spina bifida occulta, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thin upper lip vermilion, Ventriculomegaly, Wide mouth, Wide nasal bridge, obsolete Joint hyperflexibility [+]
Mouse (13 sources): abnormal DNA methylation, abnormal neocortex morphology, abnormal neuron differentiation, abnormal neuron number, abnormal neuronal precursor cell number, abnormal neuronal precursor proliferation, increased embryo weight, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, postnatal lethality, postnatal lethality, complete penetrance, thin cerebral cortex [+]
View all ortholog results at Monarch