hace1 Phenotypes

Phenotypes

XB-GENEPAGE-5757511

Gene Symbol: hace1 Gene Name: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (47 sources): Absent pubertal growth spurt, Ataxia, Axial hypotonia, Bilateral tonic-clonic seizure, Broad-based gait, Cerebral atrophy, Cerebral white matter atrophy, Deeply set eye, Delayed myelination, Delayed peripheral myelination, Delayed speech and language development, Developmental regression, Difficulty walking, Downturned corners of mouth, Dysarthria, Dystonia, Exophoria, Focal myoclonic seizure, Generalized hypotonia, Generalized myoclonic seizure, Global developmental delay, Hip dislocation, Hypertelorism, Hypoplasia of the corpus callosum, Hypotonia, Inability to walk, Intellectual disability, Kyphosis, Lower limb spasticity, Lumbar hyperlordosis, Microcephaly, Myopia, Obesity, Progressive spastic paraplegia, Puberty and gonadal disorders, Retinal dystrophy, Scoliosis, Seizure, Sensorineural hearing impairment, Short stature, Spasticity, Strabismus, Structural foot deformity, Talipes equinovarus, Unsteady gait, Urinary incontinence, Waddling gait [+]
Mouse (5 sources): embryonic lethality prior to tooth bud stage, increased T cell derived lymphoma incidence, increased lung tumor incidence, increased tumor incidence, preweaning lethality, incomplete penetrance
View all ortholog results at Monarch