b9d1 Phenotypes

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Phenotypes

Gene Literature (3)

Nucleotides (218)

Interactants (135)

XB-GENEPAGE-971083

Gene Symbol: b9d1 Gene Name: B9 protein domain 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (79 sources): Abnormal cardiovascular system morphology, Abnormal chorioretinal morphology, Abnormal form of the vertebral bodies, Abnormal pattern of respiration, Abnormality of neuronal migration, Abnormality of the hypothalamus-pituitary axis, Accessory spleen, Aganglionic megacolon, Ambiguous genitalia, Anencephaly, Anophthalmia, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the tongue, Apnea, Asplenia, Ataxia, Biparietal narrowing, Bowing of the long bones, Cataract, Cerebellar vermis hypoplasia, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Depressed nasal ridge, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Foot polydactyly, Full cheeks, Furrowed tongue, Gait disturbance, Generalized hypotonia, Global developmental delay, Hand polydactyly, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypotonia, Intellectual disability, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Male pseudohermaphroditism, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Orofacial cleft, Pancreatic cysts, Pancreatic fibrosis, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial hand polydactyly, Prominent nasal bridge, Ptosis, Sclerocornea, Scoliosis, Seizure, Situs inversus totalis, Sloping forehead, Strabismus, Talipes equinovarus, Tremor, True hermaphroditism, Ureteral duplication, Urethral atresia [+]
Mouse (20 sources): abnormal bile duct development, abnormal craniofacial morphology, abnormal embryo development, abnormal embryonic neuroepithelium morphology, abnormal hepatobiliary system morphology, abnormal kidney morphology, abnormal limb morphology, abnormal nervous system development, abnormal renal tubule epithelial cell primary cilium morphology, abnormal response to tactile stimuli, abnormal startle reflex, decreased embryonic cilium length, decreased embryonic cilium number, dilated nephron, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, perinatal lethality, complete penetrance, preweaning lethality, complete penetrance, renal tubule hypertrophy, thin myocardium [+]
View all ortholog results at Monarch