Human (149 sources):
Abnormal 5th metacarpal morphology,
Abnormal acetabulum morphology,
Abnormal cardiovascular system morphology,
Abnormal cerebellum morphology,
Abnormal chorioretinal morphology,
Abnormal corpus callosum morphology,
Abnormal form of the vertebral bodies,
Abnormal pattern of respiration,
Abnormality of neuronal migration,
Abnormality of the basal ganglia,
Abnormality of the hypothalamus-pituitary axis,
Abnormality of the optic disc,
Absent septum pellucidum,
Absent speech,
Accessory spleen,
Aganglionic megacolon,
Ambiguous genitalia,
Anencephaly,
Anophthalmia,
Anteverted nares,
Aplasia/Hypoplasia involving bones of the thorax,
Aplasia/Hypoplasia of the corpus callosum,
Aplasia/Hypoplasia of the iris,
Aplasia/Hypoplasia of the tongue,
Apnea,
Asplenia,
Ataxia,
Bell-shaped thorax,
Biparietal narrowing,
Bowing of the long bones,
Brachydactyly,
Cataract,
Cerebellar hypoplasia,
Cerebellar vermis hypoplasia,
Cervical spinal canal stenosis,
Chronic lung disease,
Cleft palate,
Colpocephaly,
Cone-shaped epiphysis,
Congenital hepatic fibrosis,
Cryptorchidism,
Cystic liver disease,
Dandy-Walker malformation,
Depressed nasal bridge,
Depressed nasal ridge,
Dilated third ventricle,
Dilation of lateral ventricles,
Duane anomaly,
Dysgenesis of the cerebellar vermis,
Dyspnea,
Early ossification of capital femoral epiphyses,
Elevated circulating hepatic transaminase concentration,
Elongated superior cerebellar peduncle,
Encephalocele,
Enlarged cisterna magna,
Epicanthus,
Episodic tachypnea,
Failure to thrive,
Feeding difficulties,
Feeding difficulties in infancy,
Foot polydactyly,
Frontal bossing,
Full cheeks,
Furrowed tongue,
Gait disturbance,
Gastroesophageal reflux,
Generalized hypotonia,
Global developmental delay,
Hand polydactyly,
Highly arched eyebrow,
Hydrocephalus,
Hyperechogenic kidneys,
Hypertelorism,
Hypoplasia of the brainstem,
Hypoplasia of the corpus callosum,
Hypospadias,
Hypotonia,
Increased intracranial pressure,
Intellectual disability,
Iris coloboma,
Lobar holoprosencephaly,
Long clavicles,
Long face,
Low-set ears,
Low-set, posteriorly rotated ears,
Male pseudohermaphroditism,
Meningocele,
Microcephaly,
Microcornea,
Micrognathia,
Microphthalmia,
Molar tooth sign on MRI,
Multicystic kidney dysplasia,
Myopia,
Nystagmus,
Occipital encephalocele,
Oculomotor apraxia,
Oligohydramnios,
Open operculum,
Optic atrophy,
Orofacial cleft,
Overfolded helix,
Pancreatic cysts,
Pancreatic fibrosis,
Polymicrogyria,
Postaxial foot polydactyly,
Postaxial hand polydactyly,
Postaxial polydactyly,
Posterior fossa cyst,
Preaxial hand polydactyly,
Prominent nasal bridge,
Proximal femoral metaphyseal irregularity,
Ptosis,
Pulmonary hypoplasia,
Recurrent aspiration pneumonia,
Recurrent respiratory infections,
Redundant neck skin,
Renal cortical cysts,
Renal cyst,
Renal dysplasia,
Renal insufficiency,
Retinal dystrophy,
Retinopathy,
Rhizomelic arm shortening,
Rhizomelic leg shortening,
Sclerocornea,
Scoliosis,
Seizure,
Sensorineural hearing impairment,
Short ribs,
Short stature,
Single naris,
Situs inversus totalis,
Sloping forehead,
Small cervical vertebral bodies,
Strabismus,
Subretinal deposits,
Supernumerary nipple,
Tachypnea,
Talipes equinovarus,
Thoracic hypoplasia,
Tremor,
True hermaphroditism,
Twelfth rib hypoplasia,
Ureteral duplication,
Urethral atresia,
Ventriculomegaly,
Visual loss,
Wide intermamillary distance
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