| Monarch Ortholog Phenotypes
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Human (48 sources):
Abnormal hair pattern,
Abnormal skeletal morphology,
Anteverted nares,
Bilateral conductive hearing impairment,
Cervical ribs,
Cleft palate,
Clinodactyly,
Congenital malformation of the left heart,
Cryptorchidism,
Cutaneous syndactyly,
Delayed skeletal maturation,
EEG abnormality,
Feeding difficulties,
Finger clinodactyly,
Global developmental delay,
Hypertelorism,
Intellectual disability,
Long palpebral fissure,
Long philtrum,
Low anterior hairline,
Low posterior hairline,
Macrodontia,
Macrotia,
Microcephaly,
Oligodontia,
Persistent open anterior fontanelle,
Prominent nasal bridge,
Radial deviation of finger,
Rib fusion,
Round face,
Scoliosis,
Seizure,
Short neck,
Short stature,
Single transverse palmar crease,
Strabismus,
Syndactyly,
Synophrys,
Telecanthus,
Thick eyebrow,
Thin upper lip vermilion,
Thoracic kyphosis,
Triangular face,
Underdeveloped nasal alae,
Vertebral arch anomaly,
Vertebral fusion,
Webbed neck,
Widely-spaced maxillary central incisors
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Mouse (22 sources):
abnormal body length,
abnormal circulating cholesterol level,
abnormal craniofacial bone morphology,
abnormal frontonasal suture morphology,
abnormal metopic suture morphology,
abnormal nasal bone morphology,
abnormal response to new environment,
abnormal retina vasculature morphology,
abnormal startle reflex,
decreased body length,
decreased bone mass,
decreased compact bone area,
decreased embryo size,
decreased osteoclast cell number,
decreased startle reflex,
domed cranium,
embryonic lethality during organogenesis, complete penetrance,
enlarged parietal bone,
failure of initiation of embryo turning,
increased bone mineral content,
preweaning lethality, complete penetrance,
short frontal bone
[+]
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View all ortholog results at Monarch
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.