hypotonia

··· Diseases ··· Symptoms ··· Lab Parameters ··· Authors ··· Ramedis ··· BH4 Patient

This is the list of current selected symptoms or laboratory findings.
In order to reduce this list click on one of this.

hypotonia

Associated Diseases	Laboratory Findings	Clinical Symptoms
2,4-DIENOYL-CoA REDUCTASE DEFICIENCY MIM:222745 2-AMINOADIPIC ACIDURIA MIM:204750 2-HYDROXYGLUTARIC ACIDEMIA (L) MIM:236792 2-HYDROXYGLUTARIC ACIDURIA (D) MIM:600721 2-KETOADIPIC ACIDEMIA MIM:245130 2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY MIM:203740 2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY MIM:300438 21-HYDROXYLASE DEFICIENCY (CYP21) MIM:201910 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY MIM:246450 3-HYDROXYISOBUTYRIC ACIDURIA MIM:236795 3-METHYL-CROTONYL-GLYCINURIA MIM:210200 3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED MIM:302060 3-METHYLGLUTACONIC ACIDURIA (TYPE IV) MIM:250951 5-OXOPROLINASE DEFICIENCY MIM:260005 ACERULOPLASMINEMIA MIM:604290 ACUTE INTERMITTEND PORPHYRIA (AIP) MIM:176000 ADENYLOSUCCINASE DEFICIENCY MIM:103050 ALPERS DISEASE MIM:203700 ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE I: SCHINDLER DISEASE MIM:104170 ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY MIM:207800 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY MIM:107930 ASPHYXIA [DD] BENIGN INFANTILE MITOCHONDRIAL MYOPATHY (BIMM) BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC) BETA-KETOTHIOLASE DEFICIENCY MIM:203750 BETA-MANNOSIDOSIS MIM:248510 BIOTINIDASE DEFICIENCY MIM:253260 CANAVAN DISEASE MIM:271900 CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS) MIM:237300 CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (I) MIM:255120 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY MIM:212138 CITRULLINEMIA TYPE I MIM:215700 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ia MIM:212065 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ic MIM:603147 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Id MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ie MIM:608799 CONGENITAL DISORDER OF GLYCOSYLATION CDG-If MIM:604041 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ig MIM:607143 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ih MIM:608104 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIa MIM:212066 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIb MIM:606056 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIc MIM:266265 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IId MIM:607091 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIe MIM:608779 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIg MIM:611209 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIh MIM:611182 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIj CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ij MIM:608093 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik MIM:608540 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Il MIM:608776 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Im MIM:610768 CONGENITAL DISORDER OF GLYCOSYLATION CDG-In MIM:612015 CONGENITAL GLUTAMINE DEFICIENCY CREATINE DEFICIENCY, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY MIM:601240 D-BIFUNCTIONAL PROTEIN DEFICIENCY MIM:261515 D-GLYCERIC ACIDURA MIM:220120 DOPA-RESPONSIVE DYSTONIA MIM:600225 DOPAMINE BETA-HYDROXYLASE DEFICIENCY (DßH) MIM:223360 ETHANOLAMINOSIS MIM:227150 ETHYLMALONIC ENCEPHALOPATHY (EPEMA) MIM:602473 FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY MIM:229700 FUMARIC ACIDURIA MIM:136850 G(M2)-GANGLIOSIDOSIS: GM2 ACTIVATOR DEFICIENCY MIM:272750 G(M2)-GANGLIOSIDOSIS: VARIANT 0, SANDHOFF DISEASE MIM:268800 G(M2)-GANGLIOSIDOSIS: VARIANT B, TAY-SACHS DISEASE MIM:272800 GABA TRANSAMINASE DEFICIENCY MIM:137150 GLUT-1 DEFICIENCY SYNDROME MIM:606777 GLUTARIC ACIDURIA I MIM:231670 GLUTARIC ACIDURIA II MIM:231680 GLYCOGENOSIS, TYPE IA. VON GIERKE DISEASE MIM:232200 GLYCOGENOSIS, TYPE IB MIM:232220 GLYCOGENOSIS, TYPE IC MIM:232240 GLYCOGENOSIS, TYPE II. INFANTILE ONSET. POMPE DISEASE MIM:232300 GLYCOGENOSIS, TYPE II. JUVENILE ONSET MIM:232300 GLYCOGENOSIS, TYPE IV. AMYLOPECTINOSIS, ANDERSON DISEASE MIM:232500 GLYCOGENOSIS, TYPE VI. HERS DISEASE MIM:232700 HOMOCARNOSINOSIS MIM:236130 HOMOCYSTINURIA, CblE TYPE OF MIM:236270 HYPER BETA-ALANINEMIA MIM:237400 HYPERGLYCINEMIA, NON-KETOTIC MIM:605899 HYPERLYSINEMIA I, FAMILIAL MIM:238700 HYPERPHENYLALANIEMIA DUE TO GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE DEFICIENCY MIM:233910 HYPERPHENYLALANINEMIA DUE TO 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY (PTPS) MIM:261640 HYPERPHENYLALANINEMIA DUE TO DHPR-DEFICIENCY MIM:261630 HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE MIM:264070 HYPERPIPECOLATEMIA MIM:239400 HYPOPHOSPHATASIA MIM:241500 JOUBERT SYNDROME MIM:213300 LEIGH`S SYNDROME, SUBACUTE NECROTIZING ENCEPHALOPATHY, SNE MIM:256000 LESCH-NYHAN SYNDROME MIM:300322 LETHAL INFANTILE MITOCHONDRIAL DISEASE (LIMD) LEUKOTRIENE C4-SYNTHESIS DEFICIENCY MIM:246530 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 MAMEL (METHYLMALONIC ACIDURIA MITOCHONDRIAL ENCEPHELOPATHY LEIGH-LIKE) A NEW MITOCHONDRIAL ENCEPHALOPATHY METACHROMATIC LEUKODISTROPHIES MIM:250100 METHYLMALONIC ACIDURIA (MMA) MIM:251000 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE MIM:277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE MIM:277410 MEVALONIC ACIDURIA MIM:251170 MITOCHONDRIAL COMPLEX II DEFICIENCY MIM:252011 MITOCHONDRIAL DNA DEPLETION SYNDROME MIM:251880 MITOCHONDRIAL ENCEPHALOMYOPATHTHY WITH ELEVANTED METHYLMALONIC ACID, SUCLA2 MITOCHONDRIAL-ENCEPHALOPATHY-LACTIC ACIDOSIS-STROKE (MELAS) MIM:540000 MOLYBDENIUM CO-FACTOR DEFICIENCY MIM:252150 MUCOLIPIDOSIS IV MIM:252650 MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM MIM:253270 MYOADENYLATE DEAMINASE DEFICIENCY MIM:102770 N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY MIM:237310 NIEMANN-PICK DISEASE TYPE C MIM:257220 OCULOCEREBRORENAL SYNDROME OF LOWE MIM:309000 ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC) MIM:311250 OROTIC ACIDURIA, HEREDITARY MIM:258900 PELIZAEUS MERZBACHER DISEASE MIM:312080 PEROXISOMAL DISORDERS, NEW TYPE, LIVER PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 2 (PEPCK2) MIM:261650 PRIMARY HYPOMAGNESEMIA MIM:248250 PSEUDONEONATAL ADRENOLEUKODYSTROPHY MIM:264470 PURINE NUCLEOSIDE PHOSPHORYLASE DIFICIENCY MIM:164050 PYRUVATE CARBOXYLASE DEFICIENCY MIM:266150 PYRUVATE DEHYDROGENASE DEFICIENCY (E1) MIM:312170 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY MIM:245349 RESPIRATORY CHAIN DEFICIENCIES REYE SYNDROME LIKE MANIFESTATIONS MIM:228100 S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY MIM:180960 SALLA DISEASE MIM:604369 SEGAWA SYNDROME MIM:128230 SENGERS SYNDROME MIM:212350 SEPIAPTERIN REDUCTASE DEFICIENCY MIM:182125 SEPSIS, NEONATAL [DD] SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD) MIM:201470 SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY MIM:600301 SIALIC ACID STORAGE DISEASE, INFANTILE TYPE MIM:269920 SIALIDOSIS TYPE I MIM:256550 SIALIDOSIS TYPE II MIM:256550 SMITH-LEMLI-OPITZ SYNDROME MIM:270400 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY MIM:271980 SUCCINYL CoA: 3-KETOACID CoA TRANSFERASE DEFICIENCY MIM:245050 TRANSALDOLASE DEFICIENCY MIM:606003 TRIFUNCTIONAL PROTEIN DEFICIENCY MIM:600890 TYROSINE HYDROXYLASE DEFICIENCY MIM:191290 UREIDOPROPIONASE DEFICIENCY MIM:210100 VERY-LONG-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY (VLCAD) MIM:201475 X-LINKED CREATINE-TRANSPORTER DEFECT MIM:300352 ZELLWEGER SYNDROME MIM:214100	% Biopterin 12-Hydroxy-eicosatetraenoic acid 14C-Acetoacetate oxidation 15-Hydroxy-eicosatetraenoic acid 17-Hydroxy-Progesteron 17-Hydroxypregnenolone 17-Ketosteroids 2 4-Dihydroxybutyric acid 2-Aminoadipic acid 2-Enoyl-CoA hydratase 2-Ethylhydracrilic acid 2-Hydroxyadipic acid 2-Hydroxybutyric acid 2-Hydroxyglutaric acid (D) 2-Hydroxyglutaric acid (L) 2-Hydroxyisovaleric acid 2-Ketoadipic acid 2-Methyl-3-hydroxybutyric acid 2-Methylacetoacetic acid 2-Methylbutyrylcamitine (C5) 2-Methylbutyrylglycine 2-Oxo-3-methylvaleric acid 2-Oxoglutaric acid 2-Oxoisocaproic acid 21-Deoxycortisol 3 4-Dihydroxybutyric acid 3-Aminoisobutyric acid 3-Hydroxy-3-methylglutaric acid 3-Hydroxy-3-methylglutaryl-CoA lyase 3-Hydroxyacyl-CoA dehydrogenase 3-Hydroxyadipic acid 3-Hydroxybutyrate + Acetoacetate 3-Hydroxybutyrate/Acetoacetate 3-Hydroxybutyric acid 3-Hydroxydicarboxylic acid 3-Hydroxyglutaric acid 3-Hydroxyisobutyric acid 3-Hydroxyisovaleric acid 3-Hydroxyisovalerylcarnitine (C5-OH) 3-Hydroxyoleoylcarnitine (C18:1-OH) 3-Hydroxypalmitoylcarnitine (C16-OH) 3-Hydroxypropionic acid 3-Hydroxysebacic acid 3-Hydroxystearoylcarnitine (C18-OH) 3-Hydroxysuberic acid 3-Hydroxyvaleric acid 3-Ketoacid CoA transferase 3-Methoxy-4-hydroxymandelic acid 3-Methoxytyramine 3-Methoxytyrosine 3-Methylcrotonyl-CoA carboxylase 3-Methylcrotonylglycine 3-Methylglutaconic acid 3-Methylglutaric acid 3-Oxoacyl-CoA thiolase 4-Hydroxy-3-methoxymandelic acid 4-Hydroxybutyric acid 4-Hydroxyphenyllactic acid 5-Hydroxyhexanoic acid 5-Hydroxyindolacetic acid 5-Hydroxytryptophan 5-Oxoprolinase 5-Oxoproline 6-Methyluracil 6-Pyruvoyl tetrahydropterin synthase 7-Dehydrocholesterol reductase 7-Dehydrocholesterol 8-Dehydrocholesterol 8-iso-prostaglandin F2alpha Acyl-CoA dehydrogenase Acylcarnitin urine Acylcarnitine/carnitine ratio Adenylosuccinase Adipic acid Adrenaline Adrenocorticotropic hormone (ACTH) Alanine Albumin Aldosterone Alkyl-dihydroxyacetone-phosphate synthase alpha-1 4 Glucan-6-alpha-glucosyltransferase alpha-1 4-Glucosidase alpha-Glucosidase alpha-N-Acetylgalactosaminidase alpha-Neuraminidase alpha1-Antitrypsine Ammonia AMP-deaminase Androstendione Antithrombin III (AT III) Arginase Arginine Argininosuccinate synthetase Argininosuccinate Aromatic L-amino acid decarboxylase Arylsulfatase A Asialotransferrin Aspartoacylase Azelaic acid beta-1 4-mannosyltransferase beta-Alanine beta-Aminoisobutyric acid beta-Hexosaminidase beta-Mannosidase Beta-N-acetylglucosaminylglycopeptide beta-1 beta-Ureidoisobutyrate beta-Ureidopropionate Bile acid intermediates Biopterin bleeding time Butanon Butyryl/Isobutyrylcarnitine (C4) Butyrylglycine C24:0/C22:0 C26:0 C26:0/C22:0 C26:1 Calcium Carbamylphosphate synthetase Carbohydrate-deficient transferrins Carnitine palmitoyltransferase I Carnitine Carnitine-acylcarnitine translocase Ceruloplasmin ferroxidase [*] Ceruloplasmin Chitotriosidase Cholesterol Cholesterol intracellular Citrate Citrulline Coagulopathy/Coagulation factors Complex I activity Complex II activity Complex III activity Complex IV activity conjunctival biopsy abnormal conjunctival biopsy enlarged lysosomes Copper Cortisol Creatine uptake Creatine Creatine/creatinine ratio Creatinine kinase Creatinine CRP CT brain abnormalities [-] Cysteinyl leukotrienes (LTC4 LTD4 LTE4) Cystine Cytochrome c oxidase D-Arabitol D-Glyceric acid Decadienoylcarnitine (C10:2) Decanoylcarnitine (C10) Dehydroepiandrosterone (DHEA) Delta-aminolevulinic acid Dicarboxylic acids urine Dihydropteridin reductase Dihydroxyacetone-phosphate acyltransferase (DHAPAT) Disialotransferrin DNA Dodecanoylcarnitine (C12) Dolichol Dopamine ECG abnormalities [-] EEG abnormalities [-] Electron microscopy [-] EMG abnormalities [-] Erythritol Ethanolamine Ethylmalonic acid Ferritin Foam cells bone marrow Folate Fructose 1 6 biphosphatase Fumaric acid GABA transaminase Galactosylceramide 3-sulfate gamma-Aminobutyric acid Glucose 6-phosphatase Glucose tolerance impaired Glucose Glutaconic acid Glutamine Glutaric acid Glutaryl CoA dehydrogenase Glutarylcarnitine (C5DC) Glycerol Glycine cleavage enzyme Glycine Glycopeptides GM2 activator protein Guanidinoacetate Guanidinoacetate-methyltransferase Guanosine triphosphate cyclohydrolase Guanosine Haptoglobin Hemoglobine Hexanoylglycine Hexosaminidase A Hexosaminidase B Homoarginine Homocarnosine Homocysteine Homocystine Homovanillic acid Hydroxyproline Hypoxanthin guanine phosphoribosyl transferase (HPRT) Hypoxanthine Immunoglobulines Inosine Insulin Iron Isobutyrylglycine Isovaleryl/2-Methylbutyrylcarnitine (C5) Isovalerylglycine Ketone bodies L-Dopa Lactate dehydrogenase (LDH) Lactate Lactate/Creatinine ratio Lactate/Pyruvate ratio Lactosylceramide 3-sulfate Lipase Liver phosphorylase Long chain acyl carnitines Long chain acyl-CoA dehydrogenase Long chain dicarboxylic acids Long-chain 3-hydroxyacyl-CoA dehydrogenase Long-chain acyl-CoAs Lymphocytes vacuoles Lysine ketoglutarate reductase Lysine Magnesium Malic acid Malondialdehyde Methionine Methylcitric acid Methylglutarylcarnitine (C6DC) Methylmalonic acid Methylmalonyl CoA mutase Methylmalonylcarnitine (C4DC) Methylsuccinic acid Mevalonate kinase Mevalonic acid Mevalonolactone MRI brain abnormalities [-] MRI brain gray matter abnormalities [-] MRI brain white matter abnormalities [-] MRS brain abnormalities [-] MRS brain basal ganglia lactate [-] Myoglobin N-Acetyl-2-aminoadipic acid N-Acetylaspartic acid N-Acetylglukosaminyltransferase II N-Acetylglutamate synthetase Neopterin no specific laboratory findings Noradrenaline Nucleoside phosphorylase Oleoylcarnitine (C18:1) Oligosaccharides Ornithine Orotic acid Osteocalcin Palmitoylcarnitine (C16) pCO2 Peroxisomal 3-oxoacyl-CoA thiolase Peroxisomal Acyl-CoA oxidase Peroxisomal bifunctional enzyme Peroxisomes liver pH Phenylalanine Phosphatase alkaline Phosphoenolpyruvate carboxykinase Phosphoethanolamine Phosphomannomutase Phosphorus inorganic Phosphorylase kinase Phytanic acid oxidation Phytanic acid Pimelic acid Pipecolic acid Pipecolic oxidase Plasmalogens biosynthesis Porphobilinogen Porphyrins Potassium Pregnantriol Primapterin Pristanic acid Progesterone Proline Propionylcarnitine (C3) Propionylglycine Protein total serum Protein total spinal fluid Protein urine Pyruvate carboxylase Pyruvate dehydrogenase E1 complex Pyruvate Pyruvic acid Retikulocytes Ribitol S-Adenosylhomocysteine hydrolase S-Adenosylhomocysteine S-Adenosylmethionine S-Sulfocysteine S100B protein Saccharopine dehydrogenase Saccharopine Sebacic acid Sepiapterin Serum acid phosphatase Sialic acid Sialyloligosaccharides Single Photon Emission Computed Tomography (SPECT) abnormalities [-] Sodium Sphingomyelin Suberic acid Succinate Succinic semialdehyde dehydrogenase Succinic semialdehyde Succinyladenosine Succinylamino-imidazole carboxamide riboside Succinylcarnitine Sulfate Sulfatide urine Sulfite oxidase Taurine Tetradecadienoylcarnitine (C14:2) Tetradecanoylcarnitine (C14) Tetradecenoic acid Tetradecenoylcarnitine (C14:1) Tetrasialotransferrin Thrombocytes Platelets Thyroxine binding globuline (TBG) Tiglyl/3-Methylcrotonylcarnitine (C5:1) Tiglylglycine Transaminases Transferrin Triglycerides Trihydroxycoprostanic acid ultrasound abdominal abnormal [-] ultrasound cranial abnormalities [-] Uracil Urea nitrogen Uric acid Uric acid/creatinine VER abnormal [-] Very-long-chain acyl-CoA dehydrogenase Very-long-chain fatty acid oxidation Very-long-chain fatty acids Xanthine dehydrogenase Xanthine	abnormal movement achalasia adrenal hyperplasia adrenal insufficiency alopecia Amino acid, spinal fluid Amino acids, plasma Amino acids, urine anemia angiokeratoma anteverted nostril apnea areflexia arthralgia ascites ataxia athetosis 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 bone age bone fractures bone marrow abnormality brain malformation brain, cortical or paraventricular cysts broad forehead (wide) broad nasal bridge brown colored urine buphthalmus cardiac arrest cardiac arrhythmia, dysrhythmia cardiac involvement cardiomegaly cardiomyopathy cataract cerebellar atrophy or hypoplasia cerebral atrophy cherry-red spot on retinal macula cholestasis chorea or athetosis chorioretinal colobomata chorioretinitis cirrhosis or fibrosis of liver cleft eyelid (coloboma) cleft palate clinodactyly clitoral hypertrophy clumsiness, coordination defect or unsteadiness coarse facial features cognitive impairment coma congenital heart defect conjunctivitis constipation contractures, joints corneal clouding corneal deposits corpus callosum, agenesis/hypoplasia cortical or cerebral atrophy costovertebral abnormalities 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 defect of walking, running, rising or climbing dehydration delay in opening eyes (postnatal) dementia diabetes mellitus diarrhea dislocated lens (ectopia lentis) dysarthria dyskinesia dysmorphism dysostosis multiplex dystonia early death eczematoid skin rush edema encephalopathy enophthalmus enteropathy, protein-loosing enuresis nocturna epicanthus or medial eyelid fold Erythropoietin [+] exercise intolerance extrapyramidal signs eye movements, abnormal facial nerve palsy facies, cherubic (dolls face) failure to thrive Fanconi syndrome fasiculations fatigue, severe or unusual feeding difficulties feeding difficulties, poor feeding fetal akinesia/hypokinesia sequence fever foot deformities gallbladder abnormalities gastrointestinal hemorrhage (bleeding) genital hypoplasia genitalia, ambigous glaucoma 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 Hemolytic-uremic-syndrome hepatoma hernia high arched palate high forehead high pitched cry hydrocephalus hydrops fetalis hygroma hyperammonemia hyperinsulinism hyperopia hyperpigmentation hyperreflexia hypersalivation hypertension hyperthermia hypertonia, spasticity hypoglycemia hypoglycorrachia hyporeflexia hypospadia hypotension hypothermia hypotonia ichthyosis impaired visual acuity increased growth velocity infantile spasms infections (local, abscesses) infections (severe or recurrent) infections (urinary tract) interstitial pneumonitis intracranial hemorrhage inverted nipples irritability jaundice joint swelling ketosis lactic acidosis large kidneys large liver large mid-face (broad, prominent) large spleen learning disability lens opacities lethargy, drowsiness, malaise or sleep disorder leukoencephalopathy limb abnormalities, limb deformities lipodystrophia liver failure liver involvement (acute, chronic, hepatitis) liver, fatty lordosis low set ears lung hypoplasia lymphopenia macrocephaly (large calvaria, >2 SD for age) macroglossia, large/protuding tongue macrosomia masculinisation of the female maternal acute fatty liver of pregnancy mental retardation metabolic acidosis metabolic alkalosis metaphyseal dysplasia microcephaly micropenis microphthalmus motor retardation muscle atrophy muscle cramps muscle weakness muscular rigidity myelination, incomplete myoclonus myopathy myopathy, ragged red fibers nasal stuffiness nausea nephrocalcinosis nephrosis nephrotic syndrome, congenital neurological deterioration Neuron Specific Enolase (NSE) neutropenia (decreased neutrophils) night blindness no clinical signs or symptoms normal at birth nose bleed nystagmus obstructive airway disease oculogyric crisis oligohydramnion (maternal) 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 osteoporosis pain, abdominal pain, muscle pallor pancreatic insufficiency pancreatitis Parkinsonism pericardial effusion peripheral neuropathy peripheral vascular disease petechiae photophobia or photosensitive defect in light-exposed area pigmentation, skin and sclera pneumonia polydactyly polyhydramnion (maternal) poor head control preeclampsia, maternal prematurity previous deaths progressive muscle defect progressive neurologic defect prominent abdomen psychosis ptosis (drooping eyelid) pulmonary alveolar proteinosis pyramidal signs 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 rigor round facies (moon-face, broad) sacral dimple scoliosis seborrhoic skin rush seizures short neck short nose short stature shortened gestation time skeletal changes skin defects skin rushes skin, pigmentation small chin or micrognathia spastic diplegia/quadriplegia speech development, delayed, abnormal spinal cord demyelinisation steatorrhea stomatitis strabismus stridor strokelike episodes subdural haematoma sudden death swallowing difficulties sweating sweaty feet odor syndactyly tachykardia tachypnea, hyperpnea, dyspnea, respiratory distress temperature instability tetany thromboembolism thrombopenia, thrombocytopenia tomcat's urine odor tremor or twitching tubulopathy urinary tract defects urolithiasis vertebral changes vomiting weight loss X-ray, abnormalities xanthoma