Human (111 sources):
Abnormal chorioretinal morphology,
Abnormal cortical bone morphology,
Abnormal male external genitalia morphology,
Abnormal palate morphology,
Abnormality of coagulation,
Abnormality of epiphysis morphology,
Abnormality of metabolism/homeostasis,
Abnormality of movement,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormality of the face,
Abnormality of the hairline,
Abnormality of the liver,
Abnormality of the tongue,
Anteverted nares,
Arrhythmia,
Ataxia,
Atrial septal defect,
Behavioral abnormality,
Bilateral single transverse palmar creases,
Brushfield spots,
CNS demyelination,
Cardiomyopathy,
Cataract,
Cerebral atrophy,
Cholelithiasis,
Clitoral hypertrophy,
Cognitive impairment,
Constriction of peripheral visual field,
Corneal opacity,
Cranial asymmetry,
Cryptorchidism,
Decreased body weight,
Decreased fetal movement,
Delayed closure of the anterior fontanelle,
Depressed nasal bridge,
Developmental regression,
Dolichocephaly,
Double outlet right ventricle,
EEG abnormality,
Elevated circulating hepatic transaminase concentration,
Elevated circulating long chain fatty acid concentration,
Elevated levels of phytanic acid,
Epicanthus,
Epiphyseal stippling,
Facial palsy,
Failure to thrive,
Feeding difficulties in infancy,
Flat face,
Flat occiput,
Generalized hypotonia,
Glaucoma,
Global developmental delay,
Growth delay,
Hearing impairment,
Hepatic failure,
Hepatomegaly,
High forehead,
High palate,
Hydrocephalus,
Hydronephrosis,
Hyperbilirubinemia,
Hyperreflexia,
Hypospadias,
Hypotonia,
Ichthyosis,
Jaundice,
Low-set, posteriorly rotated ears,
Macrocephaly,
Malabsorption,
Microcephaly,
Micrognathia,
Multicystic kidney dysplasia,
Nyctalopia,
Nystagmus,
Optic atrophy,
Patent ductus arteriosus,
Periorbital fullness,
Polymicrogyria,
Posterior embryotoxon,
Premature birth,
Primary adrenal insufficiency,
Profound global developmental delay,
Progressive muscle weakness,
Prominent nose,
Ptosis,
Pyloric stenosis,
Reduced tendon reflexes,
Renal tubular dysfunction,
Respiratory insufficiency,
Rod-cone dystrophy,
Scaphocephaly,
Seizure,
Sensorineural hearing impairment,
Severe global developmental delay,
Severe muscular hypotonia,
Short stature,
Skeletal dysplasia,
Spasticity,
Strabismus,
Thickened nuchal skin fold,
Triangular face,
Underdeveloped supraorbital ridges,
Upslanted palpebral fissure,
Ventricular septal defect,
Very long chain fatty acid accumulation,
Visual impairment,
Wide anterior fontanel,
Wide nasal bridge,
obsolete Central hypotonia,
obsolete External ear malformation
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