- 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY MIM:222745
- 2-HYDROXYGLUTARIC ACIDURIA (D) MIM:600721
- 21-HYDROXYLASE DEFICIENCY (CYP21) MIM:201910
- 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY MIM:201810
- 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY MIM:246450
- 3-HYDROXYISOBUTYRIC ACIDURIA MIM:236795
- 3-METHYL-CROTONYL-GLYCINURIA MIM:210200
- ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL) MIM:200100
- ACTH DEFICIENCY, ISOLATED MIM:201400
- ACUTE INTERMITTEND PORPHYRIA (AIP) MIM:176000
- ADENOSINE DEAMINASE (ADA) MIM:102700
- ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED MIM:300200
- ALEXANDER DISEASE MIM:203450
- ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY MIM:207800
- ARGININOSUCCINIC ACIDURIA (ASL) MIM:207900
- BETA-KETOTHIOLASE DEFICIENCY MIM:203750
- BIOTINIDASE DEFICIENCY MIM:253260
- CANAVAN DISEASE MIM:271900
- CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS) MIM:237300
- CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (I) MIM:255120
- CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II) MIM:255110
- CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY MIM:212138
- CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND KEARNS-SAYRE SYNDROM MIM:530000
- CITRULLINEMIA TYPE I MIM:215700
- CITRULLINEMIA TYPE II, ADULT-ONSET MIM:603471
- CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ib MIM:602579
- CONGENITAL DISORDER OF GLYCOSYLATION CDG-If MIM:604041
- CORTICOSTERONE METHYL OXIDASE I DEFICIENCY- CMO I MIM:203400
- CORTICOSTERONE METHYL OXIDASE II DEFICIENCY - CMO II MIM:124080
- DEHYDRATION, SEVERE, UNSPECIFIC
- DELTA-AMINOLEVULINIC ACID DEHYDRATASE-DEFICIENT PORPHYRIA (ALAD) MIM:125270
- FABRY DISEASE MIM:301500
- FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY MIM:238600
- FANCONI-BICKEL SYNDROME MIM:227810
- FEEDING: THIAMINE DEFICIENY [DD]
- FRUCTOSE INTOLERANCE, HEREDITARY MIM:229600
- FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY MIM:229700
- FUMARIC ACIDURIA MIM:136850
- GALACTOSEMIA MIM:230400
- GALACTOSEMIA III MIM:230350
- GLUTARIC ACIDURIA I MIM:231670
- GLUTATHIONE SYNTHETASE DEFICIENCY MIM:266130
- GLYCEROL INTOLERANCE SYNDROM
- GLYCEROL KINASE DEFICIENCY MIM:307030
- HEREDITARY COPROPORPHYRIA (HCP) MIM:121300
- HOMOCYSTINURIA, CblE TYPE OF MIM:236270
- HYPER-IgD SYNDROME MIM:260920
- HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA [HHH-SYNDROME] MIM:238970
- HYPERVALINEMIA MIM:277100
- HYPOADRENOCORTICISM, FAMILIAL MIM:240200
- INTOXICATION ACETAMINOPHEN [DD]
- ISOVALERIC ACIDEMIA MIM:243500
- KETOSIS, UNSPECIFIC [DD]
- KETOTIC HYPOGLYCEMIA
- KRABBE DISEASE MIM:245200
- LACTOSE INTOLERANCE MIM:150220
- LESCH-NYHAN SYNDROME MIM:300322
- LIPOID ADRENAL HYPERPLASIA (StAR DEFICIENCY) MIM:201710
- LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (LCAD) MIM:201460
- LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD) MIM:143450
- LYSINURIC PROTEIN INTOLERANCE (LPI) MIM:222700
- MALONYL-COA DECARBOXYLASE DEFICIENCY MIM:248360
- MAPLE SYRUP URINE DISEASE MIM:248600
- MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) MIM:201450
- METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY MIM:603178
- METHYLMALONIC ACIDURIA (MMA) MIM:251000
- METHYLMALONIC ACIDURIA, cblA TYPE MIM:251100
- METHYLMALONIC ACIDURIA, cblB TYPE MIM:251110
- MEVALONIC ACIDURIA MIM:251170
- MITOCHONDRIAL-ENCEPHALOPATHY-LACTIC ACIDOSIS-STROKE (MELAS) MIM:540000
- MOLYBDENIUM CO-FACTOR DEFICIENCY MIM:252150
- MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM MIM:253270
- N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY MIM:237310
- ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC) MIM:311250
- PHENYLKETONURIA (PKU) MIM:261600
- PROPIONIC ACIDEMIA MIM:606054
- PYRUVATE CARBOXYLASE DEFICIENCY MIM:266150
- PYRUVATE DEHYDROGENASE DEFICIENCY (E3) MIM:246900
- RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I MIM:179800
- RESPIRATORY CHAIN DEFICIENCIES
- REYE SYNDROME LIKE MANIFESTATIONS MIM:228100
- SARCOSINEMIA MIM:268900
- SEPSIS, NEONATAL [DD]
- SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD) MIM:201470
- SHORT-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (SCHAD) MIM:601609
- TRANSCOBALAMIN II DEFICIENCY MIM:275350
- TYROSINEMIA I MIM:276700
- VALPROATE THERAPY: ANTICONVULASANT HYPERSENSITIVITY SYNDROME VALPROATE ASSOCIATED HEPATOTOXICITY
- VARIEGATE PORPHYRIA MIM:176200
- WILSON DISEASE MIM:277900
- WOLMAN DISEASE MIM:278000
- X-LINKED CREATINE-TRANSPORTER DEFECT MIM:300352
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- abdominal distension
- abdominal fullness
- abnormal movement
- adrenal atrophy (autopsy)
- adrenal calcification
- adrenal hyperplasia
- adrenal insufficiency
- alopecia
- Amino acids, plasma
- Amino acids, urine
- aminoaciduria, generalized
- amyloidosis
- anemia
- angiokeratoma
- anorexia
- apnea
- arthralgia
- arthritis
- ascites
- ataxia
- atherosclerosis
- basal ganglia, changes
- behavior, abnormal or bizarre, confusion
- behavior, autism or autistic-like
- behavior, hyperactive, restless
- behavior, self-mutilating or destructive
- birthweight low (small for gestational age)
- bleeding tendencies, hemorrhages
- blindness, visual loss, visual impairment
- blue eyes
- bone age
- bone fractures
- bone marrow abnormality
- brain, cortical or paraventricular cysts
- brown colored urine
- buphthalmus
- cardiac arrest
- cardiac arrhythmia, dysrhythmia
- cardiomegaly
- cardiomyopathy
- cataract
- cerebellar atrophy or hypoplasia
- cerebral atrophy
- cerebral edema
- cerebral vascular disease
- cholestasis
- chorea or athetosis
- cirrhosis or fibrosis of liver
- clinodactyly
- clitoral hypertrophy
- coma
- conjunctivitis
- constipation
- contractures, joints
- corneal clouding
- corneal deposits
- coronary heart disease
- corpus callosum, agenesis/hypoplasia
- cortical or cerebral atrophy
- cranial synostosis
- cryptorchism
- cyanosis
- decreased body hair
- decreased muscle volume, atrophy or hypoplasia
- defect of adrenal gland or function
- defect of deep tendon reflexes
- defect of thyroid gland
- dehydration
- dermatitis
- diabetes mellitus
- diarrhea
- dislocated lens (ectopia lentis)
- dwarfism
- dysarthria
- dyskinesia
- dysmorphism
- dysphagia
- dyspnea
- dystonia
- early death
- eczematoid skin rush
- edema
- encephalopathy
- enophthalmus
- enteropathy, protein-loosing
- enuresis nocturna
- exercise intolerance
- extrapyramidal signs
- eye movements, abnormal
- failure to thrive
- fair (white) hair
- Fanconi syndrome
- fatigue, severe or unusual
- feeding difficulties
- feeding difficulties, poor feeding
- fetal akinesia/hypokinesia sequence
- fever
- gallstones, cholelithiasis
- gastrointestinal hemorrhage (bleeding)
- genitalia, ambigous
- glossitis
- glucosuria
- gout
- grimacing
- growth retardation
- hair loss
- hair, abnormal (thin, brittle)
- headache (severe, recurrent or occipital, migraine)
- hearing defect, deafness
- heart involvement
- HELLP syndrome
- hematemesis
- hematuria
- hemiparesis/hemiparetic cerebral palsy
- hemolysis
- hydrocephalus
- hygroma
- hyperacusis
- hyperammonemia
- hyperglycemia
- hyperhidrosis
- hyperinsulinism
- hyperpigmentation
- hyperreflexia
- hypertension
- hypertonia, spasticity
- hypoglycemia
- hypohidrosis
- hypoparathyreoidism
- hypospadia
- hypotension
- hypothermia
- hypotonia
- ileus
- impaired visual acuity
- infantile spasms
- infections (severe or recurrent)
- infections (urinary tract)
- interstitial pneumonitis
- irritability
- jaundice
- Kayser-Fleischer Ring
- ketosis
- kyphoskoliosis
- lactic acidosis
- large kidneys
- large liver
- large spleen
- learning disability
- lethargy, drowsiness, malaise or sleep disorder
- leukoencephalopathy
- lipemia retinalis
- liver carcinoma
- liver failure
- liver involvement (acute, chronic, hepatitis)
- liver, fatty
- macrocephaly (large calvaria, >2 SD for age)
- malabsorption
- maple sirup or caramel odor
- masculinisation of the female
- maternal acute fatty liver of pregnancy
- melena
- mental retardation
- metabolic acidosis
- metabolic alkalosis
- metaphyseal dysplasia
- microcephaly
- motor retardation
- mousy body odor
- muscle cramps
- muscle weakness
- myocardial infarction
- myoclonus
- myopathy
- myopathy, ragged red fibers
- nausea
- nephrocalcinosis
- nephrosis
- nephrotic syndrome, congenital
- neurological deterioration
- neutropenia (decreased neutrophils)
- night blindness
- no clinical signs or symptoms
- nystagmus
- obstructive airway disease
- onset, adolescent
- onset, adult
- onset, child
- onset, fetus
- onset, infant
- onset, newborn
- ophthalmoplegia
- opisthotonus
- optic atrophy
- Organic acid, spinal fluid
- Organic acids, plasma
- Organic acids, urine
- osteodystrophy, renal
- osteoporosis
- pain, abdominal
- pain, muscle
- pallor
- pancreatic insufficiency
- pancreatitis
- paraparesis/paraplegia
- paresthesia
- pericardial effusion
- peripheral neuropathy
- petechiae
- pigmentation, skin and sclera
- pili torti
- polyhydramnion (maternal)
- poor head control
- preeclampsia, maternal
- prematurity
- previous deaths
- progressive neurologic defect
- prominent abdomen
- pseudobulbar palsy
- psychosis
- ptosis (drooping eyelid)
- pulmonary alveolar proteinosis
- pyloric stenosis
- rancid, fishy or cabbage odor
- recent memory loss
- recurrent or intermittent skin defect
- red colored urine
- renal cysts
- renal failure, acute/chronic
- renal tubular acidosis
- respiratory acidosis
- respiratory distress
- respiratory insufficiency
- retinal or macular degeneration
- retinitis pigmentosa
- retinopathy
- rhabdomyolysis
- rickets
- Rosenthal fibers
- seborrhoic skin rush
- seizures
- sepsis (E.coli)
- short stature
- shortened gestation time
- shrill cry
- skin defects
- skin rushes
- skin, abnormal
- spastic diplegia/quadriplegia
- speech development, delayed, abnormal
- spinal cord demyelinisation
- steatorrhea
- strabismus
- stridor
- strokelike episodes
- subdural haematoma
- sweating
- sweaty feet odor
- tachykardia
- tachypnea, hyperpnea, dyspnea, respiratory distress
- testes, undescended
- thromboembolism
- thrombopenia, thrombocytopenia
- tomcat's urine odor
- tremor or twitching
- trichorrhexis nodosa
- tubulopathy
- urolithiasis
- vertigo, dizziness
- virilisation
- vomiting
- weight loss
- X-ray, abnormalities
- xanthoma
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