vps13b Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (89)

Interactants (16)

XB-GENEPAGE-853603

Gene Symbol: vps13b Gene Name: vacuolar protein sorting 13 homolog B

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (91 sources): Abnormal eyelash morphology, Abnormal eyelid morphology, Abnormal hip bone morphology, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the dentition, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Cat cry, Cerebellar hypoplasia, Childhood-onset truncal obesity, Chorioretinal dystrophy, Cleft palate, Clinodactyly of the 5th finger, Convex nasal ridge, Cough, Cryptorchidism, Cubitus valgus, Decreased fetal movement, Decreased response to growth hormone stimulation test, Delayed puberty, Downslanted palpebral fissures, Facial hypotonia, Failure to thrive in infancy, Feeding difficulties in infancy, Finger syndactyly, Generalized hypotonia, Genu valgum, Gingival overgrowth, Global developmental delay, High, narrow palate, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypotonia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Joint hypermobility, Kyphosis, Laryngomalacia, Leukopenia, Long eyelashes, Low anterior hairline, Lumbar hyperlordosis, Macrodontia, Macrodontia of permanent maxillary central incisor, Microcephaly, Micrognathia, Microphthalmia, Mitral valve prolapse, Motor delay, Myopia, Narrow palm, Neonatal hypotonia, Neurological speech impairment, Neutropenia, Nyctalopia, Nystagmus, Obesity, Open mouth, Optic atrophy, Pectus excavatum, Pes planus, Preauricular skin tag, Prominent nasal bridge, Reduced visual acuity, Sandal gap, Scoliosis, Seizure, Sensorineural hearing impairment, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Single transverse palmar crease, Slender toe, Small for gestational age, Strabismus, Tapered finger, Thick corpus callosum, Thick eyebrow, Thick hair, Thoracic scoliosis, Tooth agenesis, Ventricular septal defect, Visual impairment, Weak cry, obsolete Joint hyperflexibility [+]
Mouse (32 sources): abnormal Golgi apparatus morphology, abnormal Golgi stack morphology, abnormal Golgi vesicle transport, abnormal acroplaxome morphology, abnormal actin cytoskeleton morphology, abnormal anxiety-related response, abnormal body length, abnormal circulating alkaline phosphatase level, abnormal exploration in a new environment, abnormal locomotor activation, abnormal retina blood vessel morphology, abnormal retina vasculature morphology, abnormal sperm nucleus morphology, abnormal vitreous body morphology, absent acrosome, cellular phenotype, decreased body length, decreased circulating alkaline phosphatase level, decreased exploration in new environment, decreased lean body mass, decreased locomotor activity, eye inflammation, increased anxiety-related response, increased male germ cell apoptosis, increased startle reflex, increased total body fat amount, increased vertical activity, mature cataract, multinucleated giant male germ cells, necrospermia, persistence of hyaloid vascular system, preweaning lethality, incomplete penetrance [+]
View all ortholog results at Monarch