nipal4 Phenotypes

Phenotypes

XB-GENEPAGE-1007652

Gene Symbol: nipal4 Gene Name: NIPA-like domain containing 4

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (31 sources): Abnormal helix morphology, Abnormality of the dentition, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow, Chronic otitis media, Cognitive impairment, Congenital nonbullous ichthyosiform erythroderma, Corneal erosion, Dehydration, Dry skin, Ectropion, Epidermal acanthosis, Erythroderma, Everted lower lip vermilion, Failure to thrive, Gangrene, Hearing impairment, Hyperkeratosis, Hypohidrosis, Ichthyosis, Keratitis, Lack of skin elasticity, Palmoplantar keratoderma, Parakeratosis, Pruritus, Recurrent respiratory infections, Renal insufficiency, Sepsis, Short stature, Sparse hair, obsolete Hypotrichosis [+]
Mouse (19 sources): abnormal corneocyte morphology, abnormal epidermal lamellar body morphology, abnormal epidermis stratum granulosum morphology, abnormal keratinocyte differentiation, abnormal keratohyalin granule morphology, abnormal magnesium ion homeostasis, abnormal skin appearance, abnormal stratum corneum lipid matrix formation, decreased birth weight, decreased ceramide level, decreased keratohyalin granule size, decreased sphingosine level, impaired skin barrier function, increased ceramide level, increased keratohyalin granule number, increased sphingosine level, neonatal lethality, complete penetrance, shiny skin, thick epidermis stratum spinosum [+]
View all ortholog results at Monarch