Human (114 sources):
Abdominal pain,
Abnormal dental enamel morphology,
Abnormal facial shape,
Abnormal form of the vertebral bodies,
Abnormality of dental morphology,
Abnormality of epiphysis morphology,
Abnormality of eye movement,
Abnormality of pelvic girdle bone morphology,
Abnormality of the larynx,
Absent epiphyses,
Acute hepatic failure,
Agenesis of corpus callosum,
Anal atresia,
Anteverted nares,
Apneic episodes precipitated by illness, fatigue, stress,
Ascites,
Atrial septal defect,
Atrioventricular canal defect,
Basal ganglia cysts,
Brachydactyly,
Broad skull,
Budd-Chiari syndrome,
Cataract,
Cerebral atrophy,
Cholecystitis,
Choreoathetosis,
Chronic lactic acidosis,
Cirrhosis,
Conductive hearing impairment,
Congenital hip dislocation,
Coronal cleft vertebrae,
Crumpled ear,
Cryptorchidism,
Decreased activity of the pyruvate dehydrogenase complex,
Deep venous thrombosis,
Delayed eruption of teeth,
Delayed ossification of carpal bones,
Delayed skeletal maturation,
Depressed nasal bridge,
Developmental cataract,
Dystonia,
Elevated hepatic transaminase,
Enamel hypoplasia,
Epicanthus,
Episodic ataxia,
Esophageal varix,
Extrahepatic biliary duct atresia,
Fever,
Flared nostrils,
Flat face,
Frontal bossing,
Gastroesophageal reflux,
Gastrointestinal hemorrhage,
Gastrointestinal infarctions,
Generalized hypotonia,
Generalized joint laxity,
Genu valgum,
Global developmental delay,
Hepatocellular carcinoma,
Hepatomegaly,
Hydroureter,
Hyperalaninemia,
Hypercoagulability,
Hypoplasia of the corpus callosum,
Hypoplasia of the odontoid process,
Hypotonia,
Increased CSF lactate,
Increased serum lactate,
Intellectual disability,
Intestinal obstruction,
Jaundice,
Joint hyperflexibility,
Lethargy,
Long philtrum,
Lumbar scoliosis,
Malabsorption,
Metaphyseal dysplasia,
Microcephaly,
Midline defect of the nose,
Motor delay,
Nystagmus,
Omphalocele,
Overfolded helix,
Peritonitis,
Pes valgus,
Polyhydramnios,
Portal hypertension,
Preeclampsia,
Prolonged partial thromboplastin time,
Proximal placement of thumb,
Psychomotor retardation,
Ptosis,
Rectovaginal fistula,
Recurrent spontaneous abortion,
Resistance to activated protein C,
Scoliosis,
Seizure,
Sensorineural hearing impairment,
Severe lactic acidosis,
Short humerus,
Short metacarpal,
Short nose,
Short phalanx of finger,
Short stature,
Small for gestational age,
Splenomegaly,
Squared iliac bones,
Strabismus,
Stroke,
Ventricular septal defect,
Ventriculomegaly,
Vocal cord paresis,
Weight loss,
Wide nasal bridge
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