col25a1.2 Phenotypes

XB-GENEPAGE-5967538

Gene Symbol: col25a1.2 Gene Name: collagen, type XXV, alpha 1, gene 2

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (56 sources): Abnormal cardiovascular system morphology, Abnormal form of the vertebral bodies, Abnormal pupil morphology, Abnormal vertebral segmentation and fusion, Abnormality of eye movement, Absent radius, Amblyopia, Aniridia, Anorectal anomaly, Anteverted nares, Aplasia/Hypoplasia of the thumb, Blepharophimosis, Blepharospasm, Brachydactyly, Camptodactyly, Central heterochromia, Chorioretinal coloboma, Cleft palate, Congenital ptosis, Deeply set eye, Ectopic kidney, Everted lower lip vermilion, Facial asymmetry, Global developmental delay, Hearing impairment, Hypopigmented skin patches, Hypoplasia of the radius, Hypoplastic iris stroma, Iris coloboma, Irregular hyperpigmentation, Low posterior hairline, Microcephaly, Microcornea, Micrognathia, Narrow internal auditory canal, Nystagmus, Oculomotor nerve palsy, Optic disc hypoplasia, Patchy hypopigmentation of hair, Plagiocephaly, Preauricular skin tag, Preaxial hand polydactyly, Ptosis, Seizure, Sensorineural hearing impairment, Short neck, Short palpebral fissure, Skeletal muscle atrophy, Spina bifida occulta, Stenosis of the external auditory canal, Strabismus, Talipes equinovarus, Triphalangeal thumb, Webbed neck, Wide nasal bridge, obsolete External ear malformation [+]
Mouse (7 sources): abnormal phrenic nerve innervation pattern to diaphragm, abnormal phrenic nerve morphology, abnormal skeletal muscle morphology, decreased motor neuron number, decreased skeletal muscle fiber diameter, increased neuron apoptosis, neonatal lethality, complete penetrance
View all ortholog results at Monarch