huwe1 Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (300)

Interactants (108)

XB-GENEPAGE-957702

Gene Symbol: huwe1 Gene Name: HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (83 sources): Abnormal fingernail morphology, Abnormal foot morphology, Absent nares, Absent speech, Ankle flexion contracture, Arachnodactyly, Blepharophimosis, Brachycephaly, Brachydactyly, Bulbous nose, Camptodactyly, Cerebral atrophy, Clinodactyly, Coarse facial features, Craniosynostosis, Cryptorchidism, Cupped ear, Deeply set eye, Delayed ability to walk, Delayed gross motor development, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus inversus, Esotropia, Female infertility, Flexion contracture, Generalized hypotonia, Global developmental delay, Hearing impairment, High forehead, High palate, Holoprosencephaly, Hyperactivity, Hyperreflexia, Hypospadias, Hypotelorism, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Limited elbow extension, Long face, Long philtrum, Low posterior hairline, Low-set ears, Macrocephaly, Macroorchidism, Microcephaly, Micrognathia, Micropenis, Myopia, Narrow mouth, Nystagmus, Obesity, Oligodontia, Optic atrophy, Overlapping toe, Pectus excavatum, Pointed chin, Poor coordination, Posteriorly rotated ears, Protruding ear, Ptosis, Scoliosis, Seizure, Short foot, Short palpebral fissure, Short philtrum, Short stature, Skeletal muscle atrophy, Small for gestational age, Small hand, Spastic diplegia, Spasticity, Strabismus, Tapered finger, Thin upper lip vermilion, Triangular face, Trigonocephaly, Upslanted palpebral fissure, Wide mouth [+]
Mouse (36 sources): abnormal cerebral cortex morphology, abnormal class switch recombination, abnormal dentate gyrus morphology, abnormal developmental patterning, abnormal endoderm development, abnormal gastrulation, abnormal humoral immune response, abnormal neuronal precursor proliferation, abnormal stratification in cerebral cortex, absent B-1a cells, decreased B cell proliferation, decreased IgG1 level, decreased IgG2a level, decreased IgG3 level, decreased brain size, decreased embryo size, decreased follicular B cell number, decreased marginal zone B cell number, decreased mature B cell number, decreased pre-B cell number, decreased somite size, decreased transitional stage B cell number, disorganized pancreatic islets, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, incomplete embryo turning, increased B cell apoptosis, increased circulating glucose level, increased neuronal precursor cell number, increased susceptibility to Riboviria infection, no abnormal phenotype detected, premature death, small cerebellum, small heart, thin cerebral cortex [+]
View all ortholog results at Monarch