emc1 Phenotypes

Phenotypes

XB-GENEPAGE-1010281

Gene Symbol: emc1 Gene Name: ER membrane protein complex subunit 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (36 sources): Abnormal electroretinogram, Abnormality of visual evoked potentials, Anal atresia, Astigmatism, Axial hypotonia, Brain atrophy, Cerebellar atrophy, Cerebral atrophy, Cerebral visual impairment, Corpus callosum atrophy, Deeply set eye, Delayed speech and language development, Dystonia, Esotropia, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hypermetropia, Hypertelorism, Hypoplasia of the corpus callosum, Hyporeflexia, Intellectual disability, Laryngotracheomalacia, Limb hypertonia, Low anterior hairline, Micrognathia, Myopia, obsolete Psychomotor retardation, Optic atrophy, Prominent fingertip pads, Retrognathia, Scoliosis, Secondary microcephaly, Seizure, Short philtrum, Short upper lip [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

These phenotypes are associated with this gene with a has phenotype relation via Monarch.

Human (36 sources): Abnormal electroretinogram, Abnormality of visual evoked potentials, Anal atresia, Astigmatism, Axial hypotonia, Brain atrophy, Cerebellar atrophy, Cerebral atrophy, Cerebral visual impairment, Corpus callosum atrophy, [+]