Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Pili Gemini |
|
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... |
ORPHA:79492 |
Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail |
OMIM:614928 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic aciduria |
OMIM:613646 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Ectodermal dysplasia, Nail dystrophy, Atrichia, Nail dysplasia, S... |
OMIM:614931 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Organic aciduria, Hyperammonemia |
ORPHA:35 |
Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Argininosuccinic Aciduria |
|
Abnormal hair quantity, Ataxia, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, Aminoaci... |
ORPHA:23 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Aredyld |
|
Ectodermal dysplasia, Generalized hypotrichosis |
OMIM:207780 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Saccharopinuria |
|
Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Gait ataxia, Seizure, Spastic... |
ORPHA:3124 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:207900 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia |
OMIM:238750 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Confusion, Hepatocellular carcinoma, Portal inflammation, Elevated circulat... |
OMIM:603471 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Hair-nail ectodermal dysplasia, Dystrophic fingernails, Absent toenail |
OMIM:614927 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Dry skin, Sparse hair |
OMIM:617073 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
N-Acetylglutamate Synthase Deficiency |
|
Cognitive impairment, Hyperglutamatemia, Confusion, Hyperammonemia |
OMIM:237310 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Seizure, Diaminoaciduria, Progressive spastic quadripleg... |
OMIM:207800 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity |
OMIM:234030 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol... |
OMIM:602032 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Seizure, Status epi... |
OMIM:239500 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever |
ORPHA:183713 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Decreased liver function, Hyperammonemia |
OMIM:601466 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Failure to thrive, Hyperglutamatemia, Cerebral palsy, Generalized dystonia, Spast... |
OMIM:620358 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes |
OMIM:620199 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria |
OMIM:619813 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Poor coordination, Spastic gait, Abnormal pyramidal sign, Hyperammonemia, Dysmetria, Hype... |
OMIM:238970 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Tremor, Rigid... |
OMIM:612736 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Familial Cold Autoinflammatory Syndrome 4 |
|
Fever |
OMIM:616115 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Anhidrosis, Isolated, With Normal Sweat Glands |
|
Heat intolerance |
OMIM:106190 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated circulating ala... |
OMIM:617950 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia |
ORPHA:664 |
D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric aciduria |
OMIM:613657 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Stage 5 ... |
OMIM:222700 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Citrullinemia, Classic |
|
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... |
OMIM:215700 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Abnormal hair morphology, Aminoaciduria |
OMIM:242550 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, In... |
OMIM:271980 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen... |
OMIM:311250 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Met... |
OMIM:246450 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, Agitation, Status epi... |
OMIM:617171 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria |
OMIM:268700 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic... |
ORPHA:42 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair, Ectodermal dysplasia |
ORPHA:401911 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Confusion, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn... |
OMIM:608636 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
ORPHA:42062 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Tyrosinemia, Type Iii |
|
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, H... |
OMIM:276710 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Abnormality of the ureter, Aminoacidu... |
ORPHA:30 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Slender build, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior |
OMIM:617709 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Increased urine alpha-ketoglutarate concentration, Hepatomegaly, E... |
ORPHA:2394 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
3-Methylglutaconic aciduria |
OMIM:614053 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Hawkinsinuria |
|
Sparse hair, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair |
ORPHA:2118 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti |
OMIM:607903 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Developmental And Epileptic Encephalopathy 50 |
|
Broad-based gait, Failure to thrive, Hyperammonemia, Renal tubular acidosis, Seizure, Status epil... |
OMIM:616457 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria, Reduced orotidine 5-prime phosphate decarbox... |
OMIM:258900 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Myoclonic-Astatic Epilepsy |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... |
ORPHA:1942 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia, Anorexia, Hyperammonemia, Weight loss, Seizure, Organic aciduria, Lethargy |
ORPHA:79242 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Methylmalonic acidemia, Infantile spasms, Chorea, Methylmalonic aciduria, Hyperhomocystinemia, Ch... |
OMIM:309541 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Ectodermal dysplasia... |
OMIM:129490 |
Porphyria Cutanea Tarda |
|
Alopecia, Reduced uroporphyrinogen decarboxylase activity, Porphyrinuria, Onycholysis, Cirrhosis,... |
OMIM:176100 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever |
ORPHA:319600 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Cerebral palsy, Alopecia, Hyperglycinuria, Hyperammonemia, Opist... |
OMIM:210210 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Hyperammonemia |
OMIM:614111 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Increased serum pyruvate, Hyperammonemia, Elevated circulating sub... |
OMIM:615160 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Decreased beta-galactosidase activity, Galac... |
OMIM:230350 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:620010 |
Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Increased circulating ferritin concentratio... |
OMIM:618892 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Attention deficit hyperactivity disorder, Asymptomatic hyperammonemia |
ORPHA:35878 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, At... |
OMIM:619639 |
Dermatoleukodystrophy |
|
Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Speech apraxia, Failure to thrive, Clonus, Poor coordination, Spastic gait, Abnormal pyramidal si... |
ORPHA:415 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... |
OMIM:620211 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:617049 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent ... |
OMIM:617862 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic s... |
ORPHA:725 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:245570 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... |
OMIM:605911 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Seizure, Athe... |
ORPHA:382 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Ectodermal dysplasia, Nail dystrophy, Scaling skin, Sparse hair... |
OMIM:604536 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Jau... |
OMIM:615751 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal... |
OMIM:276880 |
Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Urinary incontinence, Cachexia, Tremor, Parkins... |
OMIM:618093 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Abnor... |
ORPHA:391417 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
Hawkinsinuria |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria,... |
OMIM:140350 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Anorexia, Hyperammonemia, Choreoathetosis, Seizure, Dystonia, Lethargy, Fail... |
ORPHA:79312 |
Hyperlysinemia |
|
Tremor, Dysmetria, Cystinuria, Opisthotonus, Hyperactivity, Clumsiness, Seizure, Hypoornithinemia... |
ORPHA:2203 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chore... |
OMIM:619150 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Hepatosplenomegaly, Telangiectasia, Abnormal circulating glutamine con... |
ORPHA:101028 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria |
OMIM:176200 |
3-Methylglutaconic Aciduria Type 1 |
|
Spastic tetraparesis, Seizure, Progressive cerebellar ataxia, 3-Methylglutaconic aciduria, Dyston... |
ORPHA:67046 |
Hartnup Disorder |
|
Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Ne... |
OMIM:234500 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... |
OMIM:617113 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Clonic seizure, Focal-onset seizur... |
OMIM:618917 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Paraplegia, Seizure, Agitation, ... |
ORPHA:927 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... |
ORPHA:399 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Hyperammonemia, Seizure, 3-Methylglutaconic aciduria, Abnormality of extrapyra... |
OMIM:614739 |
Developmental And Epileptic Encephalopathy 82 |
|
Inability to walk, Spastic tetraplegia, Hyperammonemia, Seizure, Decreased body weight, Spastic p... |
OMIM:618721 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentrati... |
OMIM:617389 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... |
OMIM:618357 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Dystonia, Cyanosis, Spastic tetraparesis, Poor coordination, Spastic diplegia, Hype... |
ORPHA:391428 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced glutathione synth... |
OMIM:231900 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Generalized dystonia, Bilateral tonic-clonic seizure, Elevated circulating crea... |
OMIM:272300 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Cutaneous photosensitivi... |
OMIM:121300 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Self-... |
OMIM:617904 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... |
OMIM:616346 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hyperammonemia, Abnormal circulating leucine concentration, Organic... |
ORPHA:6 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79333 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj... |
OMIM:617093 |
Landau-Kleffner Syndrome |
|
Speech apraxia, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral t... |
ORPHA:98818 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cyanosis, Elevated circulatin... |
ORPHA:159 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs... |
OMIM:616409 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Epilepsia partialis continua, Spastic tetraparesis, Chorea, Low plasma citrulline, Hyperammonemia... |
OMIM:618567 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Reduced phenylalanine hydroxylase level, Increased... |
OMIM:261600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... |
OMIM:615158 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoc... |
OMIM:618497 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Hyperammonemi... |
OMIM:618120 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating creatine kinase concentration, Clonus, Hypoglycemic seizures, Hypertonia, Ke... |
ORPHA:480864 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis |
OMIM:227260 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ... |
ORPHA:101330 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Asymptomatic hyperammonemia |
OMIM:606762 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Small for gestational age, Hyperammonemia, Seizure, Status epilepticus, Sparse hair,... |
OMIM:618253 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi... |
OMIM:613102 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:201475 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M... |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,... |
ORPHA:1818 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... |
ORPHA:101039 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy... |
OMIM:251100 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity... |
OMIM:618090 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperammonemia, Choreoathetosis, Seiz... |
OMIM:618416 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Ataxia, Tremo... |
OMIM:614018 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly... |
OMIM:251110 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... |
ORPHA:247585 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... |
ORPHA:330050 |
Rett Syndrome |
|
Increased serum pyruvate, Limb apraxia, Inability to walk, Hyperammonemia, Bradykinesia, Seizure,... |
ORPHA:778 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
3-Methylglutaconic Aciduria, Type Ix |
|
Epileptic spasm, Urinary incontinence, Clonus, Aggressive behavior, Choreoathetosis, Seizure, 3-M... |
OMIM:617698 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Skin ulcer |
ORPHA:492 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Malignant hyperthermia |
OMIM:600467 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus |
OMIM:603204 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Hyperammonemia, Ankle clonus, Seizure, Elevated plasma citru... |
ORPHA:247525 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Ectodermal dysplasia, Onycholysis, Nail dystrophy, S... |
OMIM:224750 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epileptic... |
OMIM:617082 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Seizure, ... |
OMIM:236270 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduria, Dicarboxyli... |
OMIM:613070 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
Scorpion Envenomation |
|
Restlessness, Hemifacial spasm, Increased circulating NT-proBNP concentration, Ketonuria, Ataxia,... |
ORPHA:466677 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:212138 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Seizure, Hyperglycine... |
OMIM:606054 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to wal... |
ORPHA:561854 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... |
OMIM:614561 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia |
OMIM:245900 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
OMIM:603552 |
L-Ferritin Deficiency |
|
Alopecia, Restless legs, Decreased circulating ferritin concentration |
OMIM:615604 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst... |
OMIM:618425 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Decreased body weight, Abnormal repetit... |
OMIM:614063 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... |
OMIM:162350 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Jaundice, Acute hepatic failure, Hyperammonemia |
OMIM:616483 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Isolated Atp Synthase Deficiency |
|
Ataxia, Spastic paraplegia, Renal hypoplasia, Hyperammonemia, Myoclonic seizure, Tetraplegia, Sei... |
ORPHA:254913 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... |
OMIM:300423 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... |
OMIM:619157 |
3-Methylglutaconic Aciduria, Type Iii |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria |
OMIM:258501 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Hepatome... |
ORPHA:1667 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... |
OMIM:619048 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple... |
ORPHA:306 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Focal Segmental Glomerulosclerosis 8 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis |
ORPHA:289916 |
3-Methylglutaconic Aciduria Type 3 |
|
3-Methylglutaconic aciduria |
ORPHA:67047 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
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Restlessness, Bilateral tonic-clonic seizure, Clumsiness, Focal impaired awareness seizure |
OMIM:610003 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
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Seizure, Cutaneous photosensitivity, Bilateral tonic-clonic seizure |
OMIM:608762 |
3-Methylglutaconic Aciduria Type 9 |
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Urinary incontinence, Clonus, Aggressive behavior, Seizure, 3-Methylglutaconic aciduria, Status e... |
ORPHA:505216 |
Mitochondrial Trifunctional Protein Deficiency 2 |
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Increased circulating NT-proBNP concentration, Elevated circulating aspartate aminotransferase co... |
OMIM:620300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Ureteral duplication, Elevated circulating creatine kinase concentration, Hypoplastic toenails, M... |
OMIM:608836 |
5-Oxoprolinase Deficiency |
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Reduced 5-oxoprolinase level, Increased level of L-pyroglutamic acid in urine, Prolinuria, Calciu... |
OMIM:260005 |
Primary Dystonia, Dyt13 Type |
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Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Acrogeria |
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Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... |
ORPHA:2500 |
Choroidal Atrophy-Alopecia Syndrome |
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Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
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Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... |
OMIM:615362 |
Bilateral Generalized Polymicrogyria |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, O... |
ORPHA:208447 |
Autism, Susceptibility To, X-Linked 3 |
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Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
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Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:300425 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Rotor Syndrome |
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Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem... |
ORPHA:3111 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
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Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
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Prominent superficial blood vessels, Cryptorchidism, Low plasma citrulline, Hyperammonemia, Cutis... |
OMIM:219150 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Fetal Cytomegalovirus Syndrome |
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Splenomegaly, Hepatomegaly |
ORPHA:294 |
Dent Disease 2 |
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Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:300555 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:99901 |
Beta-Ketothiolase Deficiency |
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Ketonuria, Ataxia, Anorexia, Hyperammonemia, Weight loss, Seizure, Agitation, Hyperuricemia, Extr... |
ORPHA:134 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Sandhoff Disease, Adult Form |
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Dystonia, Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia... |
ORPHA:309169 |
Yoon-Bellen Neurodevelopmental Syndrome |
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Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
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Acute hyperammonemia, Ketonuria, Opisthotonus, Seizure, Elevated urinary 3-methylcrotonylglycine ... |
OMIM:210200 |
Developmental And Epileptic Encephalopathy 37 |
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Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... |
OMIM:616981 |
Myoclonic Epilepsy Of Infancy |
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Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg... |
ORPHA:86909 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
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Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Dry skin, Sparse body hair |
OMIM:618535 |
Uncombable Hair Syndrome 1 |
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Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
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Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Seizure, Lethargy, ... |
OMIM:237300 |
Morbid Obesity And Spermatogenic Failure |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
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Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... |
OMIM:104100 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
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Alopecia, Ataxia, Small for gestational age, Cryptorchidism, Seizure, Hypogonadism, Long eyelashe... |
ORPHA:3363 |
Developmental And Epileptic Encephalopathy 97 |
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Epileptic spasm, Tremor, Inability to walk, Seizure, Stereotypical hand wringing |
OMIM:619561 |
Griscelli Syndrome Type 3 |
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Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Dilution, Pigmentary |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Motor tics, Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwhee... |
OMIM:619725 |
Epilepsy, Familial Adult Myoclonic, 3 |
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Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking |
OMIM:613608 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
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Dystonia, Elevated circulating acylcarnitine concentration, Seizure, Hypertonia, Ethylmalonic aci... |
ORPHA:26792 |
Biotinidase Deficiency |
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Hepatomegaly, Alopecia, Splenomegaly, Hyperammonemia, Organic aciduria, Decreased circulating bio... |
OMIM:253260 |
Autism |
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Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:209850 |
Episodic Ataxia, Type 9 |
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Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... |
OMIM:618924 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
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Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Synophrys, Unsteady gait, Seizure, Spa... |
OMIM:620317 |
Autism, Susceptibility To, 8 |
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Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:607373 |
Developmental And Epileptic Encephalopathy 74 |
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Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Sudden Infant Death Syndrome |
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Malignant hyperthermia |
OMIM:272120 |
Albinism, Oculocutaneous, Type Ib |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
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Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Seizure, Smal... |
OMIM:619470 |
Manganese Poisoning |
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Decreased female libido, Postural tremor, Dystonia, Akinesia, Aggressive behavior, Hypersexuality... |
ORPHA:306682 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Hypospadias, Glomerulonephritis, Proteinuria, Tonic seizure, Bilateral tonic-clonic seizure, Infa... |
OMIM:619428 |
Epilepsy, Familial Adult Myoclonic, 5 |
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Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... |
OMIM:616139 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking, Attention defic... |
OMIM:619191 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Urinary incontinence, Spastic tetraplegia, Spasticity, Athetosis, 3-Methylglutaconic acid... |
OMIM:250950 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Ataxia, Paraparesis, Hyperammonemia, Choreoathetosis, Seizure, Tetraparesis,... |
ORPHA:27 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Polymicrogyria, Bilateral Temporooccipital |
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Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal i... |
OMIM:612691 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased to... |
ORPHA:890 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure |
OMIM:617080 |
Neurodevelopmental Disorder With Involuntary Movements |
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Dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Atheto... |
OMIM:617493 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Spastic diplegia, Seizure, Status epilepticus, Abnormal repetitive mannerisms |
OMIM:617830 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls,... |
OMIM:616230 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia, Hirsu... |
OMIM:612526 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic aciduria, Sei... |
ORPHA:1933 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... |
ORPHA:485350 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia |
OMIM:141500 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia, Seizure, Organic aciduria, Hypertonia, Elevated urinary 3-methylcrotony... |
OMIM:253270 |
Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Pr... |
ORPHA:248111 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Difficulty walking, Spasticity, Fa... |
OMIM:617393 |
Sarcosinemia |
|
Bilateral tonic-clonic seizure, Ataxia, Hypersarcosinemia, Tetraparesis, Hypersarcosinuria |
ORPHA:3129 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hypoglutaminemia, Ataxia, Seizur... |
ORPHA:3008 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... |
OMIM:204300 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Gait ataxia, Weight loss, Seizure, Aminoaciduria, Proximal tubulopathy, Status epilepti... |
OMIM:612075 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ectodermal dysplasia, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eye... |
ORPHA:50944 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Seizure, Ankle... |
OMIM:617435 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements |
ORPHA:71518 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Premature ovarian insufficiency, Postural tremor, Urinary incontinence, Parkinson... |
OMIM:300623 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Urticaria, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fing... |
ORPHA:2251 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... |
ORPHA:216873 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Abnormality of the kidney, Hyperammonemia, 3-Methylglutaconic aciduria |
ORPHA:1194 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Highl... |
OMIM:617976 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Limb ataxia, Gait a... |
OMIM:614322 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor |
OMIM:601068 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... |
OMIM:616341 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Progeroid facial appearance, Microscopic hematuria, Hepatic steatosi... |
ORPHA:79087 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Ataxia, Eleva... |
OMIM:618384 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hyperammonemia, Seizure, Dystonia, Hyperalaninemia, Spasticity, Failur... |
OMIM:614702 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Ectodermal dysplasia, Nail dy... |
ORPHA:2890 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Seizure, Self-injurious behavior, Dystonia, Spasticity,... |
OMIM:617820 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Clonic seizure, Elevated circulating alpha-aminoadipic semialdehy... |
OMIM:266100 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... |
OMIM:104290 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Babinski sign, Limb ataxia, Urinary urgency, Seizure, Male sexual ... |
ORPHA:100999 |
Pontiac Fever |
|
Fever |
ORPHA:99748 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:98 |
Dermoodontodysplasia |
|
Sparse scalp hair, Ectodermal dysplasia, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail... |
ORPHA:1660 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
Galactose Mutarotase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Decreased liver... |
ORPHA:570422 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... |
OMIM:301020 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seizure, Urinary incontinence, Spa... |
ORPHA:100988 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly |
OMIM:609016 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Mental deterioration, Hyperalaninemia, Hyperammonemia |
OMIM:619051 |
Severe Canavan Disease |
|
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Seiz... |
ORPHA:314911 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Cutis... |
OMIM:301045 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Elevated circulating creatine kinase concentration, Clonus, Oral-pharyngeal dy... |
OMIM:616878 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait a... |
ORPHA:210128 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Focal-onset seizure, Chorea, Self-injurious behavior, Convulsive status epilep... |
OMIM:618760 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Chorea, Hyperammonemia, Opisthotonus, Status epilepticus, Myoclon... |
OMIM:616672 |
Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Extension of hair growth ... |
ORPHA:79273 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... |
OMIM:617836 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno... |
OMIM:614929 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Seizure, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic dipl... |
OMIM:619065 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus,... |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity |
OMIM:613722 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Ataxia, Anorexia, Spastic hemiparesis, Jaundice, Hyperammonemia, Weight loss, Seizure,... |
ORPHA:20 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic acidur... |
ORPHA:289504 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... |
ORPHA:2590 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Enuresis, Self-injuri... |
OMIM:613670 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Progressive neurologic deteriora... |
OMIM:615453 |
Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Adrenoleukodystrophy |
|
Alopecia, Incoordination, Urinary incontinence, Paraparesis, Spastic paraplegia, Slurred speech, ... |
OMIM:300100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ... |
OMIM:619355 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Developmental And Epileptic Encephalopathy 23 |
|
Double eyebrow, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Synophrys, Low a... |
OMIM:615859 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Hypotrichosis 3 |
|
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... |
OMIM:613981 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin... |
OMIM:300635 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... |
OMIM:611726 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe... |
OMIM:264070 |
Acute Transverse Myelitis |
|
Decreased circulating copper concentration, Urinary incontinence, Paraparesis, Babinski sign, Par... |
ORPHA:139417 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Hyperamylasem... |
OMIM:619386 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... |
OMIM:617810 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Pallor, Status epilepticus without ... |
ORPHA:33069 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... |
ORPHA:98820 |
Cog5-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Urinary incontinence, Hepatosple... |
ORPHA:263487 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia, ... |
OMIM:605899 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... |
OMIM:616645 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... |
OMIM:619911 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Ataxia, Prematurely aged appearance, Telangiectasia of the skin, Tremor... |
ORPHA:100 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... |
ORPHA:2963 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618067 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Generalized-onset seizure, Loss of ability to walk in early childhood, El... |
OMIM:612073 |
Cyclic Neutropenia |
|
Fever |
OMIM:162800 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive |
OMIM:609056 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely... |
ORPHA:1807 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri... |
OMIM:618049 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Developmental And Epileptic Encephalopathy 107 |
|
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria, Bilateral tonic-clonic seizure |
OMIM:249650 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Clonic seizure, Spastic tetraplegia, Self-injurious behavior, Seizure, Hypertonia, Abnormal repet... |
OMIM:615282 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Dystonia, Hypospadias, Ataxia, Small for gestational age, Hyperammonemia, Choreoathetosis, Renal ... |
OMIM:615471 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Aminoaciduria, Premature ovarian insufficiency, Abnormal fingernail morphology |
ORPHA:2278 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Redundant neck skin, Ascites, Hyperammonemia, Abnormal renal tubule morphology |
OMIM:611719 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
Alg8-Cdg |
|
Hyponatremia, Ataxia, Small for gestational age, Abnormality of subcutaneous fat tissue, Cutis la... |
ORPHA:79325 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Generalized-onset seizure, Cutis marmorata, Livedo reticularis, Hemiparesis, Impotence, Dysphagia |
OMIM:615750 |
Combined Malonic And Methylmalonic Aciduria |
|
Methylmalonic aciduria |
OMIM:614265 |
Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptor... |
ORPHA:3051 |
L-2-Hydroxyglutaric Aciduria |
|
L-2-hydroxyglutaric acidemia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Seizure, Abn... |
OMIM:236792 |
Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula... |
OMIM:227810 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... |
OMIM:617711 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... |
ORPHA:93952 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair |
OMIM:275400 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, ... |
OMIM:614487 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Fo... |
ORPHA:228346 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Tongue thrusting, Nonketotic hyperglycinemia, Spastic tetraplegia... |
OMIM:220120 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... |
ORPHA:289266 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Overweight, Tremor, Self-mutilation, Seizure, Hyperkinetic moveme... |
ORPHA:457240 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... |
OMIM:617350 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619301 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Slender build, Chorea, Generalized... |
OMIM:617600 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Generalized non-motor (absence) seizure, Focal motor... |
OMIM:617665 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Bilateral tonic-clonic seizure, Urinary incontinence, Ataxi... |
ORPHA:464282 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Rigidity, Babinski sign, Inappropriate b... |
OMIM:600795 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Infantile spasms, Tremor, Inability to wal... |
ORPHA:3095 |
Congenital Disorder Of Glycosylation, Type Ip |
|
Seizure, Low anterior hairline, Hyperammonemia, Opisthotonus |
OMIM:613661 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia |
OMIM:620270 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Low a... |
OMIM:619616 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Ataxia, Small for gestational age, Tremor, Cryptorchidism, Hyperammonemia, Seizure, ... |
OMIM:614052 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Frontal upsweep of hair, Spasticity |
OMIM:300983 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior |
OMIM:309530 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R... |
OMIM:213600 |
Biotinidase Deficiency |
|
Alopecia, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Hyperamm... |
ORPHA:79241 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... |
OMIM:607317 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Cystathioninuria |
|
Tremor, Cystathioninuria, Nephrolithiasis, Cystathioninemia, Seizure |
ORPHA:212 |
Lissencephaly 3 |
|
Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Seizure, Generalized tonic seizure |
OMIM:611603 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Weight loss, Seizure, Lethargy, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Ectodermal ... |
OMIM:614941 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyper... |
OMIM:617156 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Hyperammonemia |
OMIM:610678 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Myoclonic seizure, Seizu... |
OMIM:614254 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Hyperlysinuria |
OMIM:238700 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers |
ORPHA:498359 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Idiopathic Achalasia |
|
Weight loss, Decreased prealbumin level, Dysphagia |
ORPHA:930 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... |
OMIM:616421 |
Sickle Cell Disease |
|
Hematuria, Renal insufficiency, Priapism, Jaundice |
OMIM:603903 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619302 |
Episodic Ataxia Type 4 |
|
Abnormal head movements |
ORPHA:79136 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Decreased serum iron, Chronic hepatitis, Uncombable hair, Cirrhosis, ... |
OMIM:614602 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Impulsivity, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circ... |
ORPHA:35706 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Cafe-au-lait spot |
OMIM:618625 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi... |
ORPHA:79473 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Encephalopathy, Ethylmalonic |
|
Ataxia, Elevated circulating butyrylcarnitine concentration, Babinski sign, Acrocyanosis, Seizure... |
OMIM:602473 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... |
OMIM:610198 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Aminoaciduria, Myoclonus, Truncal ataxia, ... |
OMIM:250620 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dys... |
ORPHA:53583 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Impulsivity... |
OMIM:619028 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Spastic dysarthr... |
ORPHA:313772 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Cyanosis, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic seizure, Ag... |
OMIM:619580 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Transient hyperphen... |
OMIM:612716 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:242150 |
Unilateral Focal Polymicrogyria |
|
Urinary incontinence, Simple febrile seizure, Bilateral tonic-clonic seizure with focal onset, Ag... |
ORPHA:268947 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... |
OMIM:619854 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Cyanosis, Low plasma citrulline, Elevated circulating alanine aminotrans... |
OMIM:261680 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair |
ORPHA:85274 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... |
OMIM:617105 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem... |
ORPHA:369 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... |
OMIM:204200 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Restlessness, Confusion, Abn... |
ORPHA:100924 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... |
ORPHA:276435 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia |
OMIM:203740 |
Mantle Cell Lymphoma |
|
Anorexia, Weight loss |
ORPHA:52416 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614887 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Prematurely aged appearance, Dry skin, Low posterior hairline, Premature ... |
ORPHA:2617 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Infantile spasms, Tremor, Spasticity, Cutaneous photosensitivity |
OMIM:278780 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Neurogenic bladder, Incoordination, Aggressive behavior, Paralysis, Paraparesis, P... |
ORPHA:43 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hand tremor, Head tremor, Alopecia, Seizure, Gait disturbance, Oligomenorrhea, Truncal ataxia, Oc... |
ORPHA:412057 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria |
ORPHA:79159 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Seizure, Self-injurious behavior, Bruxism, Spasticity, ... |
OMIM:618718 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Small nail |
OMIM:618470 |
Infantile Cerebellar-Retinal Degeneration |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decreased body weight, Fa... |
OMIM:614559 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Thick hair, Large for gestational age, Low anterior hairline, Cutis ... |
ORPHA:363705 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic stat... |
OMIM:619913 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Hyperactivity, Resting tremor, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... |
ORPHA:157941 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Tyrosinemia, Type Ii |
|
4-Hydroxyphenylpyruvic aciduria |
OMIM:276600 |
Developmental And Epileptic Encephalopathy 47 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Inability to walk, Li... |
OMIM:617166 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
3-Methylglutaconic aciduria |
OMIM:615228 |
Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Hypohidrotic ectodermal dysplasia, Sparse hair, Dry skin, Absent hair |
OMIM:614940 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Urinary incontinence, Clonus, Babinski sign, Limb ataxia, Urinary urgency,... |
ORPHA:100993 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoath... |
OMIM:261640 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Focal-onset seizure, ... |
ORPHA:168491 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Seizure, Erythema, Hyperammonemia |
OMIM:610015 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Seizure, Self-injuri... |
OMIM:617695 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Ectodermal dysplasia |
OMIM:613576 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... |
OMIM:616299 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated ... |
OMIM:614105 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Seizure, Difficulty walking, Dyston... |
ORPHA:280763 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... |
ORPHA:240103 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset sei... |
ORPHA:395 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U... |
OMIM:600363 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Hypospadias, Abnormal eating behavior, Tremor, Poor coordinati... |
ORPHA:544254 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Hypouricemia, Proteinuria, Nephro... |
OMIM:616026 |
Ethylmalonic Encephalopathy |
|
Ataxia, Abnormal pyramidal sign, Acrocyanosis, Seizure, Abnormality of extrapyramidal motor funct... |
ORPHA:51188 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Rigidity, Abnormal pyramidal... |
ORPHA:199354 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... |
OMIM:231530 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... |
OMIM:235555 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Gait ataxia, Elevated urine acetoacetic acid level, Seizure, 3-Methylgluta... |
OMIM:620089 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Complex organic aciduria, Frontal hirsutism, Alopecia, Ataxia, Renal tub... |
ORPHA:506 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus |
OMIM:254800 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage |
ORPHA:1980 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Papillary renal cell carcinoma, Premature... |
ORPHA:363618 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... |
ORPHA:263516 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Seizure, Hypertoni... |
ORPHA:33445 |
Spinocerebellar Ataxia Type 42 |
|
Resting tremor, Urinary incontinence, Upper limb postural tremor, Unsteady gait, Babinski sign, G... |
ORPHA:458803 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Focal-onset seizure, Elevated circulating phytani... |
OMIM:614307 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... |
OMIM:616269 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... |
OMIM:607745 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Aggressive behavior, Sparse medial eyebrow, Cryptorc... |
OMIM:601358 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... |
ORPHA:234 |
Congenital Enterovirus Infection |
|
Fetal ascites, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepatic failure |
ORPHA:292 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Decreased liver function |
ORPHA:67048 |
Spinocerebellar Ataxia Type 8 |
|
Dystonia, Ataxia, Urinary incontinence, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Bradyk... |
ORPHA:98760 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Hypouricemia, Bilateral tonic-clonic seizure, Increased urinary taurin... |
OMIM:615501 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, White hair, Blue irides |
OMIM:250900 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
3-Methylglutaconic Aciduria, Type Iv |
|
3-Methylglutaric aciduria |
OMIM:250951 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... |
ORPHA:101071 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... |
OMIM:620292 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Elevated circulating creatine kinase concentration, Tremor, Myoclonus,... |
OMIM:159950 |
Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia |
OMIM:128235 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Focal-onset seizure, Hyp... |
OMIM:605711 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair |
ORPHA:79402 |
Kennedy Disease |
|
Decreased fertility, Gait disturbance, Erectile dysfunction, Abnormal circulating lipid concentra... |
ORPHA:481 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Low alkaline phosphatase |
OMIM:619985 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... |
OMIM:278000 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Low anterior hairline, Dysmetria, Gait ataxia... |
OMIM:615031 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Urinary incontinence, Self-biting, Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Tonic s... |
OMIM:300912 |
Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Erythema, Dry skin, Weight loss, Cutaneous photosensitivity, ... |
ORPHA:317 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lacticaciduria, Hyperprolinemia, Hyp... |
OMIM:619003 |
Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Seizure, Ethylmalonic acidur... |
OMIM:612233 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Cryptorchidism, Chorea, Seizure, Focal impaired awareness seizure... |
OMIM:613970 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Ataxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Pol... |
ORPHA:228402 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... |
OMIM:301029 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... |
OMIM:300953 |
Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevate... |
OMIM:614034 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Polycystic ovaries |
ORPHA:280356 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Elevated urinary N-acet... |
OMIM:271900 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Bilateral tonic-clonic seizure, Spastic tetraplegia, Dystonia |
OMIM:618237 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Inability to walk, Abnormal repetitive mannerisms, Synophrys, Low anterior hair... |
ORPHA:411986 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ataxia, Spastic tetraparesis, Hemiplegia/hemiparesis, Seizure, Aminoaciduria, Spasticity |
ORPHA:833 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bra... |
ORPHA:521406 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Gait ... |
OMIM:619092 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Ataxia... |
ORPHA:79282 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism |
OMIM:619013 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Anorexia, El... |
ORPHA:49041 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Generalized-onset seizure, Ataxia, Thick hair, Progeroid facial appearance, Inability to walk, Sl... |
ORPHA:357058 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Small for gestational age, Highly arched eyebrow, Cryptorchidism, ... |
ORPHA:352490 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Bilateral tonic-clonic seizure, Sparse e... |
OMIM:617988 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Darier's sign, Urticaria, Elevated total serum tryptase, Generalized ... |
ORPHA:98848 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Cln5 Disease |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Abnormal central motor function, Aggressive beh... |
ORPHA:228360 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria |
OMIM:251120 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Seizure, Dysphagia, Palatal tremor, Failur... |
ORPHA:363717 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seiz... |
OMIM:615716 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair, Hidrotic ectodermal dysplasia |
ORPHA:1883 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... |
OMIM:613404 |
Werner Syndrome |
|
Hypertriglyceridemia, Prematurely aged appearance, Elevated hemoglobin A1c, Elevated circulating ... |
OMIM:277700 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Cyanosis |
OMIM:613977 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Ataxia, Dystonia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness... |
ORPHA:79263 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... |
ORPHA:1414 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Thick eyebrow, Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coor... |
ORPHA:363400 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Clonic sei... |
OMIM:618012 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Sparse body hair, Failure to thrive, Decreased tes... |
ORPHA:261483 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... |
OMIM:300558 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... |
ORPHA:140927 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movemen... |
OMIM:233910 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Decreased seru... |
ORPHA:54057 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Absent eyel... |
ORPHA:69735 |
Glutaric Aciduria Iii |
|
Reduced peroxisomal glutaryl-CoA oxidase activity, Glutaric aciduria |
OMIM:231690 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Impotence, Hypogon... |
ORPHA:79230 |
Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron c... |
OMIM:619991 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Spasticity |
OMIM:226750 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Ectodermal dysplasia |
OMIM:273390 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Sp... |
OMIM:615768 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Cryptorchidism... |
OMIM:614857 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Methylmalonic aciduria, Hyperhomocysti... |
OMIM:277410 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Low anterior hairline, Myoclonic seizure, Self-injurious behavior, Thin eyebrow, Abnormal repetit... |
OMIM:619690 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Seizure, Tip-toe gait, Gait d... |
ORPHA:216866 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Abnormal pyramidal sign, Renal tubular dysfunction, Hypokalemia... |
ORPHA:213 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... |
OMIM:256700 |
Attrv30M Amyloidosis |
|
Nephropathy, Impotence, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Chorea, ... |
OMIM:618004 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypertonia... |
OMIM:619877 |
Progressive Nodular Histiocytosis |
|
Fever |
ORPHA:158022 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
Christianson Syndrome |
|
Generalized-onset seizure, Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Tr... |
ORPHA:85278 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain... |
OMIM:617916 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Increased circulating ferrit... |
OMIM:235200 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Renal agenesis, Ataxia, Tremor, ... |
ORPHA:478 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Xq28 (MECP2) duplication |
|
Inability to walk, Functional abnormality of the bladder, Gait ataxia, Seizure, Progressive spast... |
DECIPHER:45 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Synophrys, Hyperprolinemia, Long eyela... |
OMIM:619064 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Hypopigmentation of hair, Bilateral tonic-clonic seizure with generalized onset... |
ORPHA:98795 |
Adult Krabbe Disease |
|
Broad-based gait, Ataxia, Urinary incontinence, Progressive spastic paraparesis, Hoffmann sign, B... |
ORPHA:206448 |
Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Aminoaciduria, Hepatosplenomegaly |
ORPHA:33574 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608779 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine moto... |
ORPHA:79264 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Aggressive behavior, Tremor, Seizure, Hypogonadism, Myoclonus, Dysphagia |
ORPHA:97229 |
Gand Syndrome |
|
Sparse hair, Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased circulating ferritin concentration, Jaundice, Splenomegaly, Hepatitis, He... |
OMIM:194380 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Fever, Periodic fever |
OMIM:617772 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Generalized non-motor (absence) seizure, Obesity, Seizure, Abnormal repetitive manner... |
OMIM:613886 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa... |
OMIM:615704 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Head titubation, Sparse eyebrow, Trichorrhexis nodosa, Babinski sign, Spastic diplegia, Cutis lax... |
OMIM:619691 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Hypertonia, Failure... |
OMIM:604273 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Pa... |
ORPHA:2131 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, S... |
OMIM:614104 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Progressive gait ataxia, Hypertonia, Intention tremor, Ataxia, Cr... |
ORPHA:191 |
Hemochromatosis, Type 3 |
|
Purpura, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated tr... |
OMIM:604250 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Speech apraxia, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163721 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor... |
OMIM:618170 |
Riboflavin Deficiency |
|
Dicarboxylic aciduria |
OMIM:615026 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair |
ORPHA:1810 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... |
ORPHA:300605 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... |
ORPHA:529665 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Prematurely aged appearance, Def... |
OMIM:610965 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Spastic par... |
ORPHA:329284 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Ectodermal dysplasia, Aminoaciduria, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair |
OMIM:273400 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Broad-based gait, Bilateral tonic-clonic seizure, Synophrys, Coarse hair, Bruxism, Ab... |
OMIM:616351 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... |
OMIM:616281 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... |
OMIM:617872 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo... |
OMIM:617290 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici... |
OMIM:606159 |
Autism, Susceptibility To, X-Linked 2 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:300495 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi... |
OMIM:168605 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig... |
OMIM:137440 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Redundant skin, Cachexia, Abnormal circulating creatine concentration, Cho... |
ORPHA:52503 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Punding, Pallor, A... |
ORPHA:64280 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Small for gestational age, Kinetic tremor, Cryptorchidism, Renal hyp... |
OMIM:616817 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Alopecia, Recurrent urinary tract infections, Elevated circulating aspartate aminot... |
OMIM:615559 |
Glutathionuria |
|
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor |
OMIM:231950 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Broad-based gait, Small for gestational age, Elevated circulating creatine kinase concentration, ... |
OMIM:611091 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Seizure, Spasticity, Bilateral tonic-clonic seizure, Involuntary movements |
ORPHA:209370 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Hypertriglyceridemia, Small for gestation... |
OMIM:606721 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance,... |
OMIM:608154 |
Fg Syndrome Type 1 |
|
Broad-based gait, Hypospadias, Facial wrinkling, Cryptorchidism, Seizure, Frontal upsweep of hair... |
ORPHA:93932 |
Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Elevated circulating c... |
OMIM:619111 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movements, Or... |
ORPHA:454887 |
Whipple Disease |
|
Hyponatremia, Ataxia, Anorexia, Cachexia, Abnormal pyramidal sign, Seizure, Myoclonus, Erectile d... |
ORPHA:3452 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset... |
OMIM:619435 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Dystonia, Hypospadias, Small for gestational age, Failure to thrive in infancy,... |
OMIM:618891 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb... |
ORPHA:1010 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Thick hair, Splenomegaly, Elevated circulating alkal... |
OMIM:613489 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... |
OMIM:266200 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Urinary incontinence, Focal hyperkinetic sei... |
ORPHA:98784 |
Filippi Syndrome |
|
Cryptorchidism, Seizure, Dystonia, Sparse hair, Frontal hirsutism, Decreased body weight, Hypertr... |
OMIM:272440 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Erythema, Skin ulcer, Dry skin, Abnormality of the nail |
ORPHA:2584 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Highly arched eyebrow, Inability to walk, Gener... |
ORPHA:457351 |
Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo... |
ORPHA:94080 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Gait imbalance, Gait ataxia |
ORPHA:488635 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia,... |
OMIM:604367 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Hyperlipidemia, Irritability, Glycosuria |
ORPHA:2089 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Renal insufficiency, Glomerulopathy, Proteinuria, Hepatomegaly, Cutis marmorata,... |
ORPHA:91138 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Hypocalcemia, Ascites |
ORPHA:100025 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidase activity, El... |
OMIM:231670 |
Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... |
OMIM:231070 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... |
ORPHA:477673 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Small for gestational age, Aggress... |
OMIM:617799 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:245400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Gait ... |
OMIM:615157 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... |
ORPHA:93958 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa... |
ORPHA:2924 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Seizure, Focal segmental glomerulosclerosis, Hypoalbuminemia, De... |
OMIM:618347 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemipares... |
OMIM:105210 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Organic aciduria |
OMIM:614741 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Reduced C-peptide level, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:618856 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age |
OMIM:240900 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, L-2-hydroxyglutaric aciduria, In... |
OMIM:615182 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
2-ethylhydracylic aciduria |
OMIM:610006 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles... |
OMIM:615947 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... |
ORPHA:254881 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... |
OMIM:251880 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dystonia, Dysuria, Elevated circulating creatinine concentration, Hyperurico... |
ORPHA:79233 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, ... |
ORPHA:2828 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Anorexia, Hypoplastic toenails, Splenomeg... |
ORPHA:2930 |
Stimmler Syndrome |
|
Aminoaciduria, Ataxia |
ORPHA:3199 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Spasticity, Failure to... |
OMIM:618235 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Ataxia, Aggressive behavior, Pica, Obesity, Seizure, Organic aciduria, Stat... |
OMIM:620191 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Fetal pyelectasis, Babinski sign, Ankle clon... |
OMIM:301058 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Micropenis |
OMIM:613861 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation... |
ORPHA:90117 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Jaundice, Hyperlipidemia, Premature graying... |
ORPHA:79477 |
Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... |
ORPHA:53035 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... |
ORPHA:240085 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Increased body weight, Seizure, Agitation, Pallor, Lethargy |
ORPHA:276608 |
Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:609924 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, Impotence, Ga... |
ORPHA:93256 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Impaired oropharyngeal swallow response, Diff... |
ORPHA:98897 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Infantile spasms, Aggressive behavior, Synophrys, Clumsiness, Low posterior hairline, Sei... |
OMIM:619320 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Dystonia, Bilateral tonic-clonic seizure, Urinary incontinence, Elevated circ... |
ORPHA:496641 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Bilateral tonic-clonic seizure, Increased urinary sulfite... |
OMIM:252160 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Hypospadias, Ataxia, Tonic seizure, Rigidity, Cryptorchidism, Inability to... |
OMIM:300260 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Seizure, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbili... |
ORPHA:79234 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
ORPHA:99826 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... |
OMIM:214950 |
Ifap Syndrome 2 |
|
Sparse hair, Perioral erythema, Nail dystrophy, Atrichia |
OMIM:619016 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Hyperthermia, Cutaneous, With Headaches And Nausea |
|
Fever |
OMIM:145590 |
New-Onset Refractory Status Epilepticus |
|
Fever, Abnormal head movements |
ORPHA:363558 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Tremor, Lack of skin elasticity, Paraplegia, Seizure, Self-injurious be... |
ORPHA:79254 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Dysphagia, Choreoathetosis, Seizure, Bruxism, Self-mutilation |
OMIM:619422 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Generalize... |
ORPHA:3322 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Babinski sign, Impotence, Pseudobulbar paralysis, Spasticity, Autonomic erectile dysfunction |
OMIM:169500 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Weight loss, Seizure, Slender build |
OMIM:613662 |
X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dyst... |
ORPHA:53351 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria, Elevated circulating creatine kinase concentration |
OMIM:255100 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... |
OMIM:618805 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Unsteady gait, Abnormal pyramidal sign, Bab... |
OMIM:616795 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Acute Intermittent Porphyria |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Renal insufficiency, Dark ur... |
ORPHA:79276 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Tremor, Seizure, Dysphagia, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Fragile X Syndrome |
|
Abnormal head movements |
OMIM:300624 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Hypergonadotropic hypogonadism, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dy... |
OMIM:617145 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal tubular acidosi... |
ORPHA:324525 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, Thick hair, Synophrys, Hypertrichosis, Focal clonic seizure, Long... |
OMIM:618381 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe... |
OMIM:616973 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Ketonuria, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to... |
OMIM:608049 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration,... |
OMIM:610505 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... |
OMIM:224900 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio... |
OMIM:612953 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Cyanosis, Bilateral tonic-clonic seizure with focal onset, Focal-onset... |
OMIM:601764 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Isolated Succinate-Coq Reductase Deficiency |
|
Generalized myoclonic seizure, Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Seizure,... |
ORPHA:3208 |
Radio-Tartaglia Syndrome |
|
Tremor, Synophrys, Low anterior hairline, Abnormal repetitive mannerisms, Ataxia, Highly arched e... |
OMIM:619312 |
Brain Small Vessel Disease 2 |
|
Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia |
OMIM:614483 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Thick hair, Redundant skin, Abnormal subcutaneous fat tissue distribution, P... |
ORPHA:357074 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Abnormal repetitive mannerisms, Ataxia, Overweight, Obesity, Stereotypical hand wringing,... |
OMIM:619229 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Frontal balding, Abnormal circulating fatty-acid concentration, Progressive... |
ORPHA:139399 |
East Syndrome |
|
Generalized-onset seizure, Ataxia, Salt craving, Renal salt wasting, Renal magnesium wasting, Ina... |
ORPHA:199343 |
Barber-Say Syndrome |
|
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterio... |
OMIM:209885 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Decreased liver function |
OMIM:246900 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Bathing Suit Ichthyosis |
|
Alopecia, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Sparse hair |
ORPHA:100976 |
Mpi-Cdg |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Portal hypertension, Hepatic... |
ORPHA:79319 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Repetitive compulsi... |
ORPHA:66634 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Generalized-onset seizure, Ketonuria, Hypospadias, Ataxia, Small for gestational age, Tremor, Dys... |
OMIM:220111 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Bazex-Dupre-Christol Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hyperpigmentation ... |
OMIM:301845 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Sparse body hair |
ORPHA:1897 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Inability to walk, Dysmetria, Seizure, Sparse hair, Dystonia, Oculomotor apraxia, Spastic... |
OMIM:618087 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Small for ges... |
ORPHA:79243 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Synophrys, Abnormal renal morphology, Self hugging, Increase... |
OMIM:182290 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithiasis, Splenomegaly, J... |
OMIM:611881 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Cryptorchidism, Self-mutilation, Babinski si... |
ORPHA:364028 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign, Dysmetri... |
OMIM:607694 |
Rodrigues Blindness |
|
Sparse hair, Ectodermal dysplasia, Fine hair |
OMIM:268320 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia, Bile duct proliferation |
OMIM:613027 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus, Nep... |
OMIM:614652 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive |
OMIM:236795 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Inability to walk, Cryptorchidism, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:457205 |
Prolactinoma |
|
Abnormal hair quantity, Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Fema... |
ORPHA:2965 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Glutaric acid... |
ORPHA:25 |
Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp |
OMIM:136300 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur... |
OMIM:170100 |
Galactokinase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Hepatosplenomegaly, Increase... |
ORPHA:79237 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Hir... |
OMIM:610185 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
Menkes Disease |
|
Epileptic spasm, Decreased circulating ceruloplasmin concentration, Brittle hair, Alopecia, Babin... |
OMIM:309400 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim... |
ORPHA:2388 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Splenomegaly, Jaundice, Pallor, Small nail |
OMIM:615631 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... |
OMIM:312080 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Seizure, Progressive gait ata... |
ORPHA:289494 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Secondary amenorrhea, Seizure, At... |
ORPHA:3375 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure, Urinary incontinence |
ORPHA:329329 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria |
ORPHA:79246 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, postpubertal, Abnormal hair quantity, Decreased female libido, Hypogonadotropic h... |
ORPHA:91349 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Sei... |
ORPHA:70594 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Progeroid facial appearance, Failure to thrive, Small for gestational age, Slender build |
ORPHA:50811 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Chronic Recurrent Multifocal Osteomyelitis 3 |
|
Fever |
OMIM:259680 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Glutaric aciduria, Myoclonic sei... |
OMIM:600721 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, Choreoathetosis, Ureterocele, Micropenis, Hyperactivity, Absent thumbnail, Seizure, Myocl... |
ORPHA:1934 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypospadias, Abnormal... |
OMIM:222470 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Weight loss |
ORPHA:30925 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Hypoalbuminemia, Elevated gamma-gluta... |
OMIM:618329 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Recurrent respiratory infections, Lacticaciduria |
OMIM:619063 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski si... |
OMIM:183090 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Appendicular spasticity, Cerebral palsy, Seizure, Dysphagia, Sparse hair, Failure to thrive |
OMIM:620001 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Hijazi-Reis Syndrome |
|
Lower limb spasticity, Ankle clonus, Seizure, Gait disturbance, Hyperbilirubinemia, Abnormal repe... |
OMIM:301094 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Hypoplastic thumbnail, Hypoplastic toenails, Hypoplastic fifth fi... |
OMIM:619356 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Increased urinary O-linked sial... |
ORPHA:812 |
Sandhoff Disease |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Urinary incontinence, Ataxia, Myocl... |
OMIM:268800 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:610377 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size, Cryptorchidism |
OMIM:616222 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At... |
ORPHA:30391 |
Fg Syndrome 3 |
|
Hyperactivity, Fine hair, Frontal upsweep of hair, Sparse hair, Agenesis of corpus callosum |
OMIM:300406 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Hypoglycinemia, Bilateral tonic-clonic seizure, Abnormality of hair texture, Gen... |
ORPHA:79351 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Hypertonia, Nail dysplas... |
ORPHA:544503 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Low anterior hairline, Low posterior hairline, P... |
ORPHA:528 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertonia, Intention tremor, Absent eyebrow, Alopecia, Hypospadias, Prematurely aged appearance,... |
OMIM:264090 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Proteinuria, Bilateral tonic-clonic seizure with focal onset, Failure to thrive in infa... |
ORPHA:488627 |
Short Syndrome |
|
Premature skin wrinkling, Small for gestational age, Prominent superficial veins |
OMIM:269880 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Frequent falls, Tremor, Neuromuscular dysphagia, Slurred speech, T... |
ORPHA:206443 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesi... |
OMIM:607483 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Tremor, Choreoathetosis, Seizure, Myoclonus,... |
OMIM:312170 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Attention deficit hyperactivity disorder,... |
OMIM:619556 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Perianal erythema, Splenomegaly, Paronychia, Low alkaline phosphatase, Dry skin, De... |
OMIM:201100 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Myoclonic seizure, Seizu... |
OMIM:618325 |
Adenine Phosphoribosyltransferase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... |
ORPHA:976 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Hypoalbuminemia, Pallor |
ORPHA:507 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... |
OMIM:219200 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f... |
OMIM:611126 |
Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure, Loss of ambulatio... |
OMIM:617933 |
Sneddon Syndrome |
|
Cutis marmorata, Tremor, Chorea, Hemiparesis, Seizure, Nephropathy, Vascular skin abnormality |
ORPHA:820 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... |
ORPHA:329308 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad eyebrow, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Se... |
ORPHA:481152 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Dermal ... |
OMIM:614438 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Ascites, Hy... |
ORPHA:367 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Nephrolithiasis, Seizure, Hyp... |
ORPHA:369929 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Spastic/hyperactive blad... |
ORPHA:411602 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, Hypopigmentation of hair, Abnormal eating behavior, Trem... |
ORPHA:98794 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... |
ORPHA:227510 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov... |
OMIM:619738 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Alopecia, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:465508 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Hepatomegaly, Cystathioninuria, M... |
OMIM:277380 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... |
ORPHA:432 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c... |
OMIM:615673 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Urinary incontinence, Parkinsonism, Focal-onset seizure, Chorea, Babins... |
ORPHA:225147 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Tremor, Attention deficit hyperactivit... |
OMIM:618342 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia |
OMIM:261750 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea... |
OMIM:251900 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Dry skin, Sparse hair |
OMIM:268020 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... |
OMIM:619338 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Abnormality of iron homeostasis, Chole... |
ORPHA:848 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Opitz-Kaveggia Syndrome |
|
Hypospadias, Facial wrinkling, Cryptorchidism, Fine hair, Seizure, Frontal upsweep of hair, Atten... |
OMIM:305450 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Tremor, Sparse eyebrow, Seizure, Compulsive behaviors, Attention deficit hypera... |
ORPHA:370079 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Abnormal eyelash morphology, Splenomegaly, Jaundice, W... |
ORPHA:381 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Darier's sign, Urticaria, Abnormality of the liver, Derm... |
ORPHA:79456 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Fever |
OMIM:614674 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Membranoproliferative ... |
OMIM:619644 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Decreased fumarate hydratase ac... |
OMIM:606812 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Highly arched eyebrow, Dysplastic corpus callosum, Synophrys,... |
OMIM:616854 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Low anterior hairline, High anterior hairline, Self-mutilation, Ataxia, Prematurely aged appearan... |
OMIM:619950 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Tonic seizure, Synophrys, Spasticity, Myoclonic seizure, Focal im... |
OMIM:619983 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Failure to thrive, Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Hyp... |
OMIM:300986 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
OMIM:612069 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal... |
ORPHA:79332 |
Histidinemia |
|
Histidinuria |
OMIM:235800 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hypercalciuria, Macro... |
OMIM:557000 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Highly arched eyebrow, Babinski sign, Low anterior hairline, Gene... |
OMIM:615802 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Obesity, Azo... |
ORPHA:10 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper... |
OMIM:620028 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Gait disturbance, Photosensi... |
ORPHA:1192 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hypoalbuminemia, Micropenis, Self-mutilation, Thickened glomerular basement membrane,... |
OMIM:619487 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, He... |
ORPHA:156 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:300842 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Hepatomegaly |
ORPHA:100024 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Polycystic ovaries |
ORPHA:79085 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypospadias, Aggressive behavior, Tremor, Cryptorchidism, Gait ataxia, Seizure, Ab... |
OMIM:300354 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, D... |
ORPHA:98764 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Urinary incontinence, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubatio... |
OMIM:618877 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Low posterior hairline, Seizure, Self-injurious behavior, Sparse hair,... |
OMIM:613174 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Synophrys, Wide penis, Hypertonia, Vesicoureteral reflux, Sparse hair, Dilatation of rena... |
ORPHA:3455 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Involuntary movements, Elevated circulating alpha-fetoprotein concentration, Oral-p... |
OMIM:615273 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephroli... |
ORPHA:416 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park... |
OMIM:617013 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Urinary incontinence, Infan... |
ORPHA:447997 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal toenail morphology, Prematurely aged appearance, Low posterior hairline |
ORPHA:1387 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Lower limb spasticity, Epileptic spasm, Bilateral tonic-clonic seizure, Urinary incontinence, Ele... |
OMIM:617193 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Confusion, Jaundice, Hepatitis, Hyperammonemia, Depression, Euphor... |
ORPHA:90062 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair |
ORPHA:177 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Abnormal pyramidal sign, Renal cyst, Opisthotonus, Nephrocalcinosis, Seizure... |
ORPHA:445038 |
Lamellar Ichthyosis |
|
Lack of skin elasticity, Sparse hair, Dry skin, Abnormality of the nail, Aplasia/Hypoplasia of th... |
ORPHA:313 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Glycosuria |
OMIM:618857 |
Lelis Syndrome |
|
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Nail dystrophy, Sparse hair, Ab... |
ORPHA:140936 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of ... |
ORPHA:66628 |
Perineural Cyst |
|
Dyspareunia, Recurrent urinary tract infections, Urinary incontinence, Inability to walk, Neuroge... |
ORPHA:65250 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycystic ovaries |
ORPHA:435660 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi... |
ORPHA:634 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Aggressive behavior, Tremor, Cryptorchidism, Concave nail, Spastic... |
OMIM:300978 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Aggressive behavior, Clumsiness, Organic aciduria, Tongue fasciculations, Dysphagia |
OMIM:614707 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi... |
ORPHA:91347 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Angelman Syndrome |
|
Tremor, Hyperactivity, Ataxia, Tongue thrusting, Obesity, Seizure, Myoclonus, Atypical absence se... |
ORPHA:72 |
Xp22.13P22.2 Duplication Syndrome |
|
Seizure, Truncal obesity, Slowed slurred speech, Sparse hair, Attention deficit hyperactivity dis... |
ORPHA:284180 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... |
ORPHA:163681 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Reduced haptoglobin level |
OMIM:612126 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Decreased female libido, Salt craving, Hypercalcemia, Anorexia... |
ORPHA:95409 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Elevated circulating creatine kinase con... |
OMIM:607426 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... |
OMIM:602481 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Hand tremor, Hypertonia, Dystonia, Premature skin wrinkling, Medullary nephrocalcinosis |
OMIM:618947 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dystonia, Tr... |
ORPHA:354 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Progeroid facial appearance,... |
ORPHA:79086 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Agitation, Hypospadias, Micropenis |
OMIM:618840 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di... |
OMIM:302800 |
D-Lactic Aciduria With Gout |
|
Lacticaciduria |
OMIM:245450 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, S... |
OMIM:300894 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... |
OMIM:620141 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Abnormal eating behavior, Tongue thrusting, O... |
ORPHA:411511 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Seizure, Premature skin wrinkling, Dysphagia |
OMIM:601559 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ... |
OMIM:313200 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Synophrys, Self-injurious behavio... |
OMIM:620075 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Bilateral tonic-clonic seizure, Supernumerary nipple, Aggressive behavior |
OMIM:616083 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd... |
OMIM:614831 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Keppen-Lubinsky Syndrome |
|
Spastic tetraparesis, Progeroid facial appearance, Opisthotonus, Seizure, Hypertonia, Premature s... |
ORPHA:435628 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior |
OMIM:615541 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse h... |
OMIM:252920 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... |
ORPHA:501 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Dermal translucency, Absent nipple, Prema... |
OMIM:612289 |
Malonyl-Coa Decarboxylase Deficiency |
|
Elevated urine suberic acid level, Methylmalonic aciduria |
OMIM:248360 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... |
OMIM:210000 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of ... |
ORPHA:179494 |
Scleroderma, Familial Progressive |
|
Calcinosis, Chromosome breakage, Abnormality of chromosome stability, Abnormal abdomen morphology... |
OMIM:181750 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Unsteady gait, Spastic/hyperactive bladder, Slurred speech, Babinski sign... |
ORPHA:137898 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Erythema, Dry sk... |
OMIM:257980 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the kidney, Decreased serum iron, Overweight, Repetitive compulsive behavior, Orom... |
ORPHA:391372 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements |
OMIM:245348 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... |
OMIM:208085 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... |
OMIM:229600 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Seizure, Impotence, Oligomenorrhea |
ORPHA:91354 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasci... |
OMIM:617281 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal renal morphology, S... |
OMIM:610883 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnor... |
ORPHA:400 |
Reni Syndrome |
|
Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia |
OMIM:617575 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Abnormality of the bladder, Hematuria, Fine hair, Sparse hair |
ORPHA:1839 |
Chylomicron Retention Disease |
|
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Multiple glomerular cysts, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Dystonia, Ch... |
ORPHA:255210 |
Wilson Disease |
|
Aggressive behavior, Abnormality of the menstrual cycle, Hypersexuality, Jaundice, Increased body... |
ORPHA:905 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Gait ataxia, Seizure, 3-Methylglutaconic aciduria, Spasticity, Spastic gait |
ORPHA:496790 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Elevated... |
OMIM:220150 |
4Q21 Microdeletion Syndrome |
|
Tremor, Synophrys, Seizure, Self-injurious behavior, Long eyelashes, Abnormal repetitive manneris... |
ORPHA:238750 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Aggressive behavior, Hypoplastic t... |
ORPHA:544488 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
Multiple Endocrine Neoplasia, Type Iia |
|
Elevated urinary vanillylmandelic acid, Elevated urinary epinephrine level, Elevated urinary dopa... |
OMIM:171400 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:164180 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hypertriglyceridemia, Generalized hirsutism, Polycystic ovaries |
ORPHA:2348 |
Ogden Syndrome |
|
Generalized-onset seizure, Redundant neck skin, Redundant skin, Hypertonia, Abnormal repetitive m... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Cryptorchidism, Seizure, Truncal ob... |
OMIM:300957 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Sparse scalp hair, Recurrent urinary tract infections, Hypospadias, Sparse eyelashes, Highly arch... |
OMIM:619293 |
Sengers Syndrome |
|
Mental deterioration, 3-Methylglutaconic aciduria, Premature ovarian insufficiency |
OMIM:212350 |
Huntington Disease-Like 3 |
|
Abnormal head movements |
ORPHA:157946 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... |
ORPHA:33543 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, Hyperlipidemia, White hair |
ORPHA:79476 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Generalized hirsutism |
ORPHA:79083 |
Werner Syndrome |
|
Renal neoplasm, Sparse scalp hair, Prematurely aged appearance, Telangiectasia of the skin, Abnor... |
ORPHA:902 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Seizure, Abnormal repetitive mannerisms, Thick eyebrow, Dermal translucency |
ORPHA:529965 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... |
ORPHA:276621 |
Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Absent facial hair, Sparse axillary hair |
OMIM:300068 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Cryptorchidism, Synophrys, Self-bi... |
ORPHA:3306 |
Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Low anterior hairline, ... |
OMIM:614222 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Anhidrotic ectodermal ... |
OMIM:129400 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Small for gestational age, Dorsocervical fat pad, Synophrys, Low anterior hairl... |
ORPHA:391408 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Bilateral tonic-clonic seizure, Ataxia, Large for gestational age... |
OMIM:615398 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus |
OMIM:607876 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Hypospadias, Lack of facial su... |
ORPHA:2959 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Cachexia, Abnormal hair morphology, Lack of skin elasticity,... |
ORPHA:1979 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Flynn-Aird Syndrome |
|
Alopecia, Ataxia, Cachexia, Skin ulcer, Seizure |
ORPHA:2047 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Seizure, Bruxism, Spasticity, Ster... |
OMIM:312750 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Seizure, Long eyelashes, Abnormal repetitive mannerisms, Broad eyebrow, Dermal tr... |
OMIM:617682 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, El... |
OMIM:615381 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614576 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Obesity, Seizure, Self-injurious behav... |
OMIM:600430 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Dystonia, Abnormal circulating carnitine concentration, Choreoathetosis, Renal... |
ORPHA:431361 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Paronychia, Erythema, Skin ulcer, W... |
ORPHA:37 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal... |
ORPHA:348 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Urinary incontinence, Sp... |
OMIM:620070 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Seizure, Focal impaired awareness seizure, Fai... |
ORPHA:488613 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hep... |
OMIM:602579 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Dysphagia |
ORPHA:2198 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Involuntary movements, Infantile spasms, Myoclonic seizure, Dysphagia, Spasti... |
ORPHA:572013 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Cholesterol ... |
ORPHA:209902 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Hydrocephalus, Low anterior hairline, Lateral ventricle dilatation, Small nail |
OMIM:614219 |
Sheehan Syndrome |
|
Hyponatremia, Dyspareunia, Decreased female libido, Sparse axillary hair, Sparse pubic hair, Obes... |
ORPHA:91355 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Lacticaciduria, Falls, Tongue fasciculations, Failure to thrive |
OMIM:618811 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Inability to walk, Seizure, Organic aciduria |
OMIM:617184 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Telangiectasia, Fragile nails, Cutaneous photosensitivity... |
OMIM:601675 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski... |
OMIM:200110 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Splenomegaly, Skin ulcer, Nephrotic syndrome, Ascites |
ORPHA:834 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Hypospadias, Abnormality of the kidney, Small for gestational age, Aggressive beha... |
OMIM:123450 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Renal tubu... |
ORPHA:436271 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal... |
ORPHA:264580 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... |
OMIM:146500 |
Short Syndrome |
|
Sparse hair, Excessive wrinkled skin, Alopecia |
ORPHA:3163 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Babinski sign, Elevated amniotic fl... |
ORPHA:423479 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Malignant hyperthermia |
OMIM:601887 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Obesity, Seizure, Compulsive behav... |
OMIM:618430 |
Ddost-Cdg |
|
Tremor, Oromotor apraxia, Dry skin, Seizure, Failure to thrive, Nephrotic range proteinuria |
ORPHA:300536 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Tremor, Jaundice, Elevated circulating creatinine concent... |
OMIM:274150 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Sparse hair |
ORPHA:659 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements |
ORPHA:247815 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Dystonia, Aggressive behavior, Elevated circulating creatine co... |
OMIM:300352 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Multifocal seizures, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetrapl... |
OMIM:617710 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Aggressive behavior, Tremor, Synophrys, Low anterior hairline, Seizure, Self-injur... |
OMIM:617061 |
Fatal Familial Insomnia |
|
Ataxia, Weight loss, Urinary retention, Myoclonus, Dysphagia |
OMIM:600072 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Alazami Syndrome |
|
Cutis marmorata, Abnormal eating behavior, Sparse eyebrow, Seizure, Abnormal repetitive mannerism... |
ORPHA:319671 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Alopecia, Hydrocephalus, Renal hypoplasia, Vesicoureteral reflux, Rena... |
ORPHA:85284 |
2Q32Q33 Microdeletion Syndrome |
|
Aggressive behavior, Fine hair, Attention deficit hyperactivity disorder, Sparse hair, Decreased ... |
ORPHA:251019 |
Rhabdoid Tumor |
|
Renal neoplasm, Cerebral palsy, Hypercalcemia, Weight loss, Hematuria, Hemiplegia |
ORPHA:69077 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Aggressive behavior, Unsteady gait, Hirsutism, Seizure, Hypertonia, Long eyelashes... |
OMIM:212066 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Seizure, Aminoaciduria, Small nail, Failure to thrive |
OMIM:614520 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Methylmalonic aciduria, Dysmetria |
OMIM:615578 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly |
OMIM:266150 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Alopecia, Chronic active ... |
OMIM:203800 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, 3-Methylglutaconic aciduria, Hyperkinetic... |
OMIM:616271 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, S... |
OMIM:617796 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Ascites |
ORPHA:2123 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Polycystic ovaries |
ORPHA:435651 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Failure to thrive in infancy, Slow-growing hair, Redundant skin, Abnormal eyelash m... |
ORPHA:1340 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... |
ORPHA:542310 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Ataxia, Seizure, Aminoaciduria, Subcutaneous hemorrhage |
OMIM:603585 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Decreased beta-glucocerebrosidase level |
OMIM:231000 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Decreased testicular size, Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy |
OMIM:610644 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Lacticaciduria, Dysphagia, Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:618247 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Elevated circulating phytanic acid concentration |
OMIM:215100 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Cryptorchidism, H... |
ORPHA:361 |
Cold Agglutinin Disease |
|
Splenomegaly, Abnormal urinary color, Pallor, Hepatomegaly |
ORPHA:56425 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Hypospadias, Thin eyebrow |
ORPHA:3242 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Abnormal circulating creatine kinase conce... |
ORPHA:369840 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Broad-based gait, Hyperactivity, Cachexia, Aggressive behavior, Tremor, Abno... |
ORPHA:85293 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Seizure, Dysphagia, Spast... |
OMIM:617664 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Tremor, Seizure, Gait disturbance, Pallor |
ORPHA:29822 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavio... |
OMIM:612313 |
Panhypophysitis |
|
Hyponatremia, Decreased female libido, Impotence, Hyposthenuria, Pallor, Polydipsia, Decreased ma... |
ORPHA:95513 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Generalized-onset seizure, Gait ataxia, Difficulty walking, Dystonia, Spasticit... |
OMIM:617807 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Dry skin, Fine hair, Sparse or absen... |
ORPHA:217346 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Ectodermal dysplasia, Dystrophic toenail, Nail dystro... |
ORPHA:3253 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Seizure, Abnormality of the urin... |
ORPHA:702 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Sparse hair, Hyperch... |
ORPHA:2457 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hypertyrosinemia, Elevated hepatic transaminase, Renal insufficiency, Hepa... |
OMIM:276700 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... |
ORPHA:829 |
Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Urinary incontinence, Progressive spastic paraparesis, Functional abnormality... |
ORPHA:79093 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Highly arched eyebrow, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Ob... |
OMIM:618825 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
Tangier Disease |
|
Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly... |
ORPHA:31150 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
De Barsy Syndrome |
|
Progeroid facial appearance, Cryptorchidism, Prominent veins on trunk, Cutis laxa, Athetosis, Pro... |
ORPHA:2962 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Cutis laxa |
ORPHA:75496 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Alopecia of scalp, Multiple lentigines, Sparse hair... |
OMIM:615280 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Generalized-onset seizure, Proteinuria, Postural tremor, Act... |
OMIM:254900 |
Prolidase Deficiency |
|
Hepatomegaly, Recurrent cystitis, Abnormal fingernail morphology, Splenomegaly, Erythema, Low ant... |
ORPHA:742 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Renal insufficiency, Proteinuria, Ataxia, Progeroid facial appearance, Tre... |
ORPHA:90321 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Hypercalcemia, Aggressive behavior, Tremor, Synophrys, Gait ataxia, Seizure... |
ORPHA:476126 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal... |
ORPHA:79240 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Cutaneous photosensitivity |
OMIM:610756 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of ... |
OMIM:612199 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ... |
OMIM:208920 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Kury-Isidor Syndrome |
|
Alopecia, Hydronephrosis, Attention deficit hyperactivity disorder, Hypertrichosis |
OMIM:619762 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Dystonia, Hypospadias, Aggressive behavior, Unsteady gait, Methylmalonic ... |
ORPHA:17 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ... |
ORPHA:90153 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Seizure, Att... |
OMIM:620242 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Increased circulatin... |
ORPHA:824 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Br... |
OMIM:612940 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Brittle hair |
ORPHA:50812 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur... |
OMIM:618060 |
Weaver Syndrome |
|
Deep-set nails, Bilateral tonic-clonic seizure, Thin nail, Cryptorchidism, Slurred speech, Genera... |
OMIM:277590 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Abnormal pyramidal sign, Seizure, Ethylmalonic aciduria, Lethargy, Failure to thrive |
OMIM:201470 |
Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure, Failure to thrive |
ORPHA:91131 |
Poems Syndrome |
|
Leukonychia, Weight loss, Hypogonadism, Erectile dysfunction, Acrocyanosis, Hypertrichosis |
ORPHA:2905 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Joubert Syndrome 37 |
|
Sparse hair, Hepatomegaly, Micropenis, Hydronephrosis |
OMIM:619185 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Cutis laxa, Ectodermal dysplas... |
OMIM:614099 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Onycholysis, Polyphagia, Weight loss |
OMIM:275000 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy |
OMIM:616353 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Nephrolithiasis, Spastic tetraplegia, Myoclonic s... |
OMIM:615474 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney... |
ORPHA:447 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Japanese Encephalitis |
|
Hyponatremia, Dystonia, Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfun... |
ORPHA:79139 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Anor... |
ORPHA:330015 |
Addison Disease |
|
Hyponatremia, Premature ovarian insufficiency, Primary testicular failure, Hypercalcemia, Decreas... |
ORPHA:85138 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper m... |
ORPHA:530983 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hemiparesis, Bilateral tonic-clonic seizure |
OMIM:540000 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Dermotrichic Syndrome |
|
Seizure, Aminoaciduria, Nail dystrophy, Hyperconvex toenail |
ORPHA:99688 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Alopecia, Abnormal eyebrow morphology, Abnormal fingernai... |
ORPHA:1775 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin... |
OMIM:614376 |
Pituicytoma |
|
Impotence, Decreased female libido, Hypogonadotropic hypogonadism, Amenorrhea |
ORPHA:251623 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Hypospadias, Abnormal hair whorl, Cryptorchidism, Sparse hair, Micropenis |
ORPHA:2872 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism... |
OMIM:252930 |
Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Fever |
OMIM:241120 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Bilateral tonic-clonic seizure, Highly arched eyebrow, Focal-onset seizure, Cryptorc... |
OMIM:618316 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... |
OMIM:300607 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Melas |
|
Abnormal central motor function, Hypogonadotropic hypogonadism, Proteinuria, Bilateral tonic-clon... |
ORPHA:550 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal granulocyte morphology, Alopecia, Hypertriglyceridemia, Abnormal circulating creatine ki... |
ORPHA:98907 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Female hypogonadism, Alopecia tota... |
ORPHA:740 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Prematurely aged appearance, Redundant skin, Unilateral renal agenesis, Cuti... |
ORPHA:90348 |
Polyarteritis Nodosa |
|
Cutis marmorata, Abnormality of the kidney, Elevated circulating C-reactive protein concentration... |
ORPHA:767 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Low posterior hairline, Multiple lentigines, Sparse hair, Cafe-au-lait... |
OMIM:613224 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Hypopigmentation of hair, Hypertriglyceridemia, Panc... |
ORPHA:167 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Seizure, Aminoaciduria, Abnormal hair morphology |
ORPHA:414 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
Takayasu Arteritis |
|
Seizure, Skin ulcer, Anorexia, Weight loss |
ORPHA:3287 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Red urine, Ele... |
OMIM:263700 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Prematurely aged appearance, Pancreatic cysts, Abnorm... |
ORPHA:1318 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Jaundice, Pallor, Hepatomegaly |
OMIM:613839 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... |
ORPHA:29072 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Decreased fertility, Obesity, Hypogonadism, Sparse body h... |
ORPHA:2234 |
Bainbridge-Ropers Syndrome |
|
Failure to thrive, Thick eyebrow, Highly arched eyebrow, Supernumerary nipple, Inability to walk,... |
OMIM:615485 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Abnormal repetitive mannerisms, Tetraparesis |
ORPHA:85277 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Progeroid facial appearance |
OMIM:617763 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia, Aggressive behavior |
OMIM:247100 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic ... |
ORPHA:469 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Hypospadias, Ventriculomegaly, Supernumerary nipple |
ORPHA:3224 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,... |
ORPHA:268940 |
Recon Progeroid Syndrome |
|
Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,... |
OMIM:620370 |
Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Hepatitis |
ORPHA:525 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Jaundice, Seizure, 3-Methylglutaric aciduria, 3-Methylglutaconic acidur... |
OMIM:617248 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoplasia of penis, Prematurely aged appearance, Truncal obesity |
ORPHA:633 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Unsteady gait, Babinski sign, Limb ataxia, Gait ataxia, Clumsiness, 3-Methylglutaconic ac... |
OMIM:619259 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Synophrys, Hypertriglyceridemia |
ORPHA:819 |
Adams-Oliver Syndrome |
|
Alopecia, Cutis marmorata, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic... |
ORPHA:974 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Gait disturbance... |
OMIM:168601 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Cryptorchidism, Seizure, Attention deficit hyperactivity disorder, Mic... |
OMIM:618504 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, Long eyelashes, Dysphagia, A... |
OMIM:617802 |
Acute Promyelocytic Leukemia |
|
Metrorrhagia, Anorexia, Weight loss, Hematuria, Addictive alcohol use, Ecchymosis, Bruising susce... |
ORPHA:520 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Enuresis nocturn... |
OMIM:619680 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cutis marmorata, Hemiplegia/hemiparesis, Weight... |
ORPHA:183 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... |
OMIM:615538 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... |
OMIM:616393 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Small for gestational age, Bilateral tonic-clonic seizure, Self-mutilation |
ORPHA:453510 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, 3-Methylglutaconic ... |
OMIM:619835 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai... |
ORPHA:90154 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Sparse scalp hair, Anhidrotic ectodermal dysplasia, Splenomegaly, Aplasia of the sw... |
OMIM:612132 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Developmental And Epileptic Encephalopathy 95 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Highly arched eyebrow, Focal-onset s... |
OMIM:618143 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... |
OMIM:308240 |
Classic Hodgkin Lymphoma |
|
Ataxia, Anorexia, Weight loss |
ORPHA:391 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Premature ovarian insufficiency, Hypercalcemia, Anorexia, Hyperkalemia, Dry skin, W... |
ORPHA:199299 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Abdominal obesity, Hypogonadism, Sparse body hair, Dec... |
OMIM:300869 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... |
OMIM:612843 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal ... |
OMIM:232200 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine hair, Coarse hair, Breast ... |
OMIM:308300 |
Trichothiodystrophy |
|
Ridged nail, Generalized-onset seizure, Brittle hair, Abnormal pyramidal sign, Gait ataxia, Hyper... |
ORPHA:33364 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Self-injurious behavior, Alopecia |
OMIM:601853 |
3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Attention defici... |
ORPHA:435638 |
Aredyld Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormality of the ureter, Sparse body hair, Aplasia/Hypoplasia of th... |
ORPHA:1133 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Failure to thrive, Ketonuria, Bilateral tonic-clonic seizure, Ataxia, Abnormality of the... |
ORPHA:99885 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Renal insufficiency, Dry hair, Proteinuria, Ataxia, Small fo... |
OMIM:133540 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dry skin, Dystrophic fingernails, Sparse body... |
OMIM:150400 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Seizure, Truncal obesity, Hypogonadism, Sparse hair, Decreas... |
ORPHA:127 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Impulsivity, Aggressive behavior, Fragile nails, Small nail, Pili torti, Trichorrhexis ... |
OMIM:261990 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hirsutism |
OMIM:613327 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Inability to walk ... |
OMIM:620224 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Alopecia, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormalit... |
ORPHA:93552 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dys... |
OMIM:619121 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... |
ORPHA:79284 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Renal hypoplasia, Coarse hair, Nail dystrophy |
ORPHA:75389 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Decreased adipose tissue around neck, Prominent superficial veins, Proger... |
OMIM:608612 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... |
ORPHA:920 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Bilateral tonic-clonic seizure, Cryptorchidism, Obesity, Hyposthenuria, Vesic... |
OMIM:615926 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Hyperactivity, Bilateral tonic-clonic seizure, Small for gestational age, Spar... |
OMIM:234100 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Seizure, Abnormal repetitive mannerisms |
OMIM:613443 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Cryptorchidism, Unsteady gait, Generalized... |
OMIM:617798 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
Gangliocytoma |
|
Decreased female libido, Focal-onset seizure, Impotence, Polyphagia, Amenorrhea |
ORPHA:251937 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno... |
OMIM:216360 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Infantile spasms, Aggressive behavior, Tremor, Cryptorchidism, Jaundice, Seizure, Hypertonia, Hyp... |
OMIM:608093 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Thick hair, Tremor, Inability to walk... |
OMIM:617675 |
Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Synophrys, Hepatosplenomegaly, Telangiectasia... |
OMIM:606003 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Multicystic kidney dysplasia, Obesity, Choreoathetosis, Seizure, Attention defici... |
ORPHA:261197 |
Ogden Syndrome |
|
Abnormal head movements |
ORPHA:276432 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Elevated circulating creatin... |
ORPHA:308552 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
White-Sutton Syndrome |
|
Duplicated collecting system, Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Hypogly... |
OMIM:616364 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetop... |
ORPHA:370348 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait... |
OMIM:614381 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Highly arched eyebrow... |
OMIM:615476 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hype... |
OMIM:232220 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morp... |
ORPHA:1655 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Jaundice, Skin ulcer, Cirrhosis, Ascites, Generalized a... |
ORPHA:779 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Urinary urgency, Bradykinesia, Dysphagi... |
OMIM:168600 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Cutis marmorata, Elevated circulating C-reactive protein concentra... |
OMIM:615934 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Renal insufficiency, Dry hair, Proteinuria, Ataxia, Prematur... |
OMIM:216400 |
Reticular Dysgenesis |
|
Failure to thrive, Skin ulcer, Weight loss |
ORPHA:33355 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Low... |
OMIM:618000 |
African Trypanosomiasis |
|
Renal insufficiency, Abnormal central motor function, Alopecia, Urinary incontinence, Akinesia, A... |
ORPHA:3385 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Hypospadias, Sparse eyelashes, Sparse eyebrow, Cryptorchidis... |
OMIM:613026 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Inability to walk, Seizure, Hypertonia, Spasticity |
OMIM:616801 |
Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease, Dry skin, Cutis laxa, Abnormal spleen morphology, Na... |
ORPHA:85448 |
Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Absent eyelashes, Ectoderm... |
OMIM:106260 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Nail dystrophy, Dry skin |
ORPHA:3162 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Dysphagia, ... |
ORPHA:298 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Synophrys, Renal hypop... |
OMIM:619297 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention d... |
OMIM:618205 |
Adenohypophysitis |
|
Hyponatremia, Decreased female libido, Impotence, Hyposthenuria, Pallor, Decreased male libido, A... |
ORPHA:95512 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Sparse facia... |
ORPHA:2232 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paraly... |
OMIM:616586 |
Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... |
ORPHA:85443 |
Satoyoshi Syndrome |
|
Alopecia, Mildly elevated creatine kinase, Alopecia universalis |
OMIM:600705 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Highly arched eyebrow, Supernumerary nipple, Telangiectas... |
ORPHA:247262 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Elevated circulating alkaline... |
ORPHA:330001 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Skin ulcer, Fine hair |
ORPHA:1806 |
Sandifer Syndrome |
|
Abnormal head movements |
ORPHA:71272 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Sialuria |
|
Hepatomegaly, Splenomegaly, Synophrys, Hirsutism, Low posterior hairline, Hypoplastic nipples, Ge... |
OMIM:269921 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Splenomegaly, Pancreatic lymphangiectasis, Ascites, Hypocalcem... |
OMIM:235255 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Slow-growing hair, Thin nail, Malformation of the hepatic ductal plate, Short nail,... |
OMIM:218330 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... |
ORPHA:57777 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Abnormality of chromosome stability, Telangiectasia of the ski... |
ORPHA:99812 |
Tetanus |
|
Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine level, Tremor... |
ORPHA:3299 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Renal tubular dysfunction, Seizure, Amino... |
OMIM:220110 |
Richards-Rundle Syndrome |
|
Ketonuria, Hypergonadotropic hypogonadism, Ataxia, Hypertonia, Gait disturbance |
ORPHA:1399 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Multiple pancreatic beta-cell adenomas, Decreased circulating free fatty acid level, D... |
ORPHA:79644 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Clonus, Spastic te... |
OMIM:619055 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelash... |
OMIM:137940 |
Pelger-Huet Anomaly |
|
Seizure, Lower limb hypertonia, Failure to thrive, Bilateral tonic-clonic seizure |
OMIM:169400 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thick eyebrow, Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typic... |
ORPHA:466950 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... |
ORPHA:309155 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Cryptorchidism, Spasticity, Gait ataxia, Seizure, Microphallus, Micropenis, Abnorm... |
OMIM:300486 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypopl... |
OMIM:616541 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Broad-based gait, Lower limb spasticity, Aggressive behavior, Cryptorchidism, Self-... |
ORPHA:251028 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Alopecia, Hepatitis, Ventriculomegaly |
OMIM:304790 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypertonia, Dry skin, Abno... |
ORPHA:79155 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anorexia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail dystrophy |
OMIM:175500 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dry skin, Ectoderma... |
OMIM:103285 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin |
ORPHA:137608 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Synophrys, Hypertonia, Tics, Compulsive behaviors, Micropenis, Abnormal r... |
OMIM:619475 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Histiocytosis, Microcytic anemia, He... |
ORPHA:168569 |
5Q14.3 Microdeletion Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Thick eyebrow |
ORPHA:228384 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Horseshoe kidney, Head-banging, ... |
OMIM:619103 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Impulsivity, Pa... |
OMIM:614298 |
Thanatophoric Dysplasia Type 1 |
|
Excessive wrinkled skin, Seizure, Redundant skin, Abnormality of the kidney |
ORPHA:1860 |
Johanson-Blizzard Syndrome |
|
Alopecia, Hypoplasia of penis, Hypospadias, Abnormal hair pattern, Abnormality of the pancreas, H... |
ORPHA:2315 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abnormality of reproductive system physiology, Increased body w... |
ORPHA:1501 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... |
OMIM:239200 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Sparse hair |
ORPHA:2316 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Hepatic steatosis |
OMIM:275630 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Oligoz... |
ORPHA:91348 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Hepatomegaly, Hyper... |
ORPHA:280365 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Hepatic fibrosis, Polycystic kidney dysplas... |
OMIM:614091 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Exocrine pancreatic insufficiency |
OMIM:612714 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Nephrotic syndrome, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... |
OMIM:618056 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Dysph... |
ORPHA:683 |
Fanconi Anemia, Complementation Group S |
|
Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Failure to thrive |
OMIM:617883 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, ... |
ORPHA:313892 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Anorexia, Weight loss |
OMIM:209950 |
Histidinemia |
|
Histidinuria |
ORPHA:2157 |
Hereditary Bullous Dystrophy, Macular Type |
|
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia |
ORPHA:1867 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Hypospadias, Highly arched eyebrow, Synophrys, Seizure, Abnormal repetitive manner... |
OMIM:617751 |
Lujo Hemorrhagic Fever |
|
Resting tremor, Renal insufficiency, Bilateral tonic-clonic seizure, Elevated circulating C-react... |
ORPHA:319213 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Dysmenorrhea, Prematurely aged appearance, Sparse eyebrow, Early bald... |
ORPHA:2067 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gall... |
ORPHA:171 |
Lissencephaly Due To Tuba1A Mutation |
|
Focal-onset seizure, Spasticity, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:171680 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Scarf Syndrome |
|
Hepatocellular adenoma, Low posterior hairline, Perineal hypospadias, Cutis laxa, Hypoplastic nip... |
ORPHA:3134 |
Congenital Erythropoietic Porphyria |
|
Abnormal circulating porphyrin concentration, Splenomegaly, Scarring alopecia of scalp, Red-brown... |
ORPHA:79277 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Ectodermal dysplasia, Nail dystrophy |
ORPHA:98813 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypertonia, Micropenis, Hypospadias, Ataxia, Cryptorchidism, Typical absence seizure, Seizure, Ga... |
ORPHA:268261 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Accessory spleen, Hepatomegaly, Decreased circulating copper conce... |
OMIM:300972 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Hepatosple... |
ORPHA:444490 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Multicystic kidney dysplasia, Agenesis of corpus callosum |
OMIM:619980 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Hyperbilirubinem... |
OMIM:224120 |
Down Syndrome |
|
Prematurely aged appearance, Renal hypoplasia/aplasia, Obesity, Decreased fertility, Gait disturb... |
ORPHA:870 |
Macs Syndrome |
|
Alopecia, Hypergonadotropic hypogonadism, Redundant skin, Sparse eyebrow, Cryptorchidism, Urethra... |
OMIM:613075 |
Spinocerebellar Ataxia Type 3 |
|
Abnormality of temperature regulation |
ORPHA:98757 |
Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Weight loss, Elevated circulating C-reactive protein concentration, Anorexia |
ORPHA:1302 |
Juvenile Dermatomyositis |
|
Calcinosis, Alopecia, Telangiectasia of the skin, Elevated circulating creatine kinase concentrat... |
ORPHA:93672 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Oral-pharyngeal dysphagia, Tremor, Synophrys, Spastic diplegia, Seizure, Gait disturbance... |
OMIM:300966 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Hyperuricemia, Sparse hair, Uric... |
OMIM:300661 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Fetal pyelectasis, ... |
OMIM:619512 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Sparse eyelashes |
OMIM:616367 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Seizure, Myo... |
OMIM:300672 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Bilateral tonic-clonic seizure, Sparse pubic hair, Breast aplasia, Febrile sei... |
ORPHA:3044 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Anorexia, Weight loss |
ORPHA:65682 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Coffin-Siris Syndrome 6 |
|
Seizure, Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hypocalcemia, Hepatitis |
ORPHA:47 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Cyanosis, Hypospadias, Bilateral tonic-clonic seizure, Ataxia, Ba... |
OMIM:252010 |
Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
ORPHA:48818 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis, Weight loss |
OMIM:613239 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hyp... |
ORPHA:18 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Splenomegaly, Angiokeratoma corporis diffusum, Decreased beta-galactosidase activit... |
OMIM:230500 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... |
OMIM:619127 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Synophrys, Poor coordination, Generalized no... |
ORPHA:466943 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Prematurely aged appearance, Cachexia, Dry skin, Urticaria, Spasticity, Cutaneous photose... |
ORPHA:220295 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Abnormality of the liver,... |
ORPHA:398124 |
Trichotillomania |
|
Hair-pulling, Alopecia, Compulsive behaviors |
OMIM:613229 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Bilateral to... |
ORPHA:90068 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Acrocyanosis, ... |
ORPHA:349 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Nail dystrophy, Cholelithiasis, A... |
OMIM:240300 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Female hypogonadism, Ataxia, Elevated circulating alpha-fetoprotein ... |
OMIM:208900 |
Kleefstra Syndrome 1 |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Synophrys, Abnormal renal morphology, Obesity, ... |
OMIM:610253 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Agenesis of corpus callosum, Fine hair |
ORPHA:228390 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Wolman Disease |
|
Splenomegaly, Hepatomegaly, Hepatic failure, Ascites |
ORPHA:75233 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Ventriculomegaly, Abnormal fingernail morphology, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1647 |
Giant Cell Arteritis |
|
Renal insufficiency, Alopecia, Ataxia, Anorexia, Skin ulcer, Weight loss, Hematuria |
ORPHA:397 |
Dengue Fever |
|
Hepatomegaly, Petechiae, Ascites, Hypoproteinemia, Bruising susceptibility |
ORPHA:99828 |
Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Hyperactivity, Severe temper tantrums, Compulsive behaviors, Hypoplastic fifth... |
OMIM:618027 |
Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Cachexia |
ORPHA:2471 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Synophrys, Abnormal repetiti... |
ORPHA:391307 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Elevated circulating alkaline phosphatase concentration |
OMIM:600785 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Highly arched eyebrow, Supernumerary nipple, Spa... |
ORPHA:1001 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Cyanosis, Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypokalemia, Hypertonia,... |
OMIM:618426 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Violent behavior, Broad-based gait, Bilateral tonic-clonic seizure,... |
OMIM:280000 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Seizure, Athetosis, Bruxism, Spasticity, Apraxia, Abnormal re... |
OMIM:613454 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
De Sanctis-Cacchione Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Bilateral cryptorchidism, Babinski sign, Scissor gait, Te... |
OMIM:278800 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Renal neoplasm, Alopecia, Premature ovarian insuf... |
ORPHA:79474 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Pseudoxanthoma Elasticum |
|
Telangiectasia of the skin, Lack of skin elasticity, Nephrocalcinosis, Excessive wrinkled skin, B... |
ORPHA:758 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperacti... |
OMIM:234200 |
Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
Childhood Disintegrative Disorder |
|
Seizure, Abnormal repetitive mannerisms, Urinary incontinence |
ORPHA:168782 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Abnormal urine alpha-ketoglutarate concentration |
ORPHA:31 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Hypospadias, Bilateral tonic-clonic seizure, Hyposerinemia |
ORPHA:79350 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Ataxia, Progeroid facial appearance, Unsteady gait, Cutaneous telang... |
OMIM:615919 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Low anterior hairline, Hypercalciuria,... |
OMIM:618440 |
Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Elevated circulating C-reactive protein concentration, Splenomegaly, Jaun... |
ORPHA:90051 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cryptorchidism, Micropenis, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... |
OMIM:620073 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:163596 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Prematurely aged appearance, Aggressive behavior,... |
ORPHA:909 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Ectodermal dysplasia, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Hypertriglyceridemia, Elevated hemoglobi... |
OMIM:617253 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Cutaneous photosensitivity, Skin ulcer, Weight loss |
ORPHA:312 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Ataxia, Tremor, Seizure, Dysphagia, Testicular atrophy, Hydronep... |
OMIM:222300 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair, Hepatocellular carcinoma |
OMIM:616200 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... |
OMIM:620024 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Hydrocephalus, Pelvic kidney, Agenesis of corpus callosum, Hydronephrosis, Dandy-Walker... |
OMIM:613001 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia |
ORPHA:884 |
Gapo Syndrome |
|
Hepatomegaly, Alopecia, Prominent scalp veins, Sparse eyelashes, Redundant skin, Sparse eyebrow, ... |
OMIM:230740 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Hepatic necrosis, Nail pits, Premature graying of hair, Nail dystrophy, Ci... |
OMIM:127550 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Ventriculomegaly, Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-... |
OMIM:302960 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Progeroid facial appearance, Cryptorchidism, Gait disturbance, Dif... |
ORPHA:90322 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Highly arched eyebrow, Cryptorchidism, Seizure, Abnormal repetitive mannerisms |
ORPHA:500159 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Inability to walk, Renal hypoplasia, Nephrocalcinosis, Seizure, Aminoac... |
OMIM:617913 |
Wrinkly Skin Syndrome |
|
Redundant skin, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet... |
OMIM:278250 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Highly arched eyebrow, Aggressive behavior... |
ORPHA:261494 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Renal hypoplasia, Self-injurious behavior, Hype... |
OMIM:618914 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Alopecia, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Dystonia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:606002 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Alopecia, Brittle hair, Multicystic kidney dysplasia, Renal insuff... |
ORPHA:2750 |
Familial Colorectal Cancer Type X |
|
Renal neoplasm, Abnormal circulating creatine concentration, Hemiplegia/hemiparesis, Abnormal pyr... |
ORPHA:440437 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Hyperlipidemia, Nephrolithiasis, Renal cell carcinoma... |
ORPHA:189427 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hypercholester... |
OMIM:151660 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Weight ... |
ORPHA:29073 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors,... |
ORPHA:534 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Abnormality of the kidney, Aggressive behavior, Hypoplastic toenails, Toenail d... |
OMIM:606232 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... |
ORPHA:411629 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Sparse eyelashes, Cholangitis, ... |
OMIM:613610 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... |
ORPHA:275761 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Bilateral tonic-clonic seizure, Elevated hemoglobin A1c |
OMIM:619278 |
Niemann-Pick Disease, Type C2 |
|
Dystonia, Ataxia, Jaundice, Seizure, Prolonged neonatal jaundice, Dysphagia, Cataplexy, Spasticit... |
OMIM:607625 |
Barth Syndrome |
|
Fair hair, Failure to thrive, 3-Methylglutaconic aciduria, Gait disturbance |
OMIM:302060 |
Monosomy 18P |
|
Alopecia, Low posterior hairline |
ORPHA:1598 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Cholangitis, Microvesicular hepatic steatosis, L... |
OMIM:124000 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Ataxia, Weight loss, Seizure, Infertility, Hypocalcemia, Failure to thrive |
OMIM:212750 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Renal cyst, Horseshoe kidney, Small nail |
ORPHA:166035 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Decreased serum zinc |
OMIM:608118 |
Pfapa Syndrome |
|
Abnormality of temperature regulation |
ORPHA:42642 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... |
OMIM:232300 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Seizure, Dysphagia, Mildly elevated creatine kinase |
ORPHA:397744 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Seizure, Progressiv... |
OMIM:607459 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Scleromyxedema |
|
Elevated circulating creatine kinase concentration, Abnormality of the kidney, Aged leonine appea... |
ORPHA:167635 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagla... |
ORPHA:73224 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Inability to walk, Hypoplastic fifth fingernail, Generalized non-... |
OMIM:614207 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular hypertrophy, Hepatomegaly, Ketonuria, Lacticaciduria |
OMIM:619167 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia |
OMIM:612079 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Gen... |
OMIM:614756 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Low cholesterol esterification rate,... |
OMIM:257220 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Secondary amenorrhea, Self-injurious behavior, Co... |
ORPHA:488618 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Hyp... |
OMIM:613673 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Spastic tetraplegia, Seizure, Self-injurious behavior, Severe failure to thrive |
ORPHA:371364 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,... |
OMIM:620330 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Ataxia, Telangiectasia of the skin, Cryptorchidism, Erythe... |
ORPHA:910 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial n... |
OMIM:158310 |
22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Displ... |
ORPHA:1727 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly |
ORPHA:79292 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Hyperbilirubinemia, Cholelithiasis |
ORPHA:822 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Tongue thrusting, Low posterior ... |
OMIM:115150 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Alopecia, Splenomegaly, Hepatitis, Abnormal blood ion concentratio... |
ORPHA:37042 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Abnormal location of the eyebrow, Repetitive compulsive behavior, Chorea, Widow's peak, S... |
ORPHA:522077 |
Ring Chromosome 10 Syndrome |
|
Seizure, Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hy... |
ORPHA:428 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Proteinuria, Generalized-onset s... |
OMIM:212065 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry skin, Bruising susceptibility |
OMIM:619745 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Elevated circulating alkaline phosphatase concentration |
OMIM:135100 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Cachexia, Proteinuria, Gait disturbance |
ORPHA:2774 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration |
ORPHA:85414 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... |
OMIM:123700 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Cutis marmorata, Unilateral renal agenesis, Aggressive... |
ORPHA:96121 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail |
ORPHA:79394 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
Wrinkly Skin Syndrome |
|
Cryptorchidism, Excessive skin wrinkling on dorsum of hands and fingers, Slurred speech, Prominen... |
ORPHA:2834 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Alopecia, Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Dysphagia |
ORPHA:142 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercalcemia, Elevate... |
ORPHA:653 |
Polymyositis |
|
Elevated circulating creatine kinase concentration, Anorexia, Weight loss, Gait disturbance, Abno... |
ORPHA:732 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Urinary incontinence |
OMIM:600142 |
Bone Dysplasia, Lethal Holmgren Type |
|
Redundant neck skin, Failure to thrive, Weight loss |
ORPHA:1842 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Fragile skin, Onycholysis, Nail dystrophy, ... |
OMIM:601214 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism, Bilateral tonic-clonic seizure, Progeroid facial appearance |
OMIM:300578 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Bilateral tonic-clonic seizure, Cryptorchidism, Spasticity, Seizure,... |
OMIM:301040 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Proteinuria, Pancreatic cysts, Hydrocephalus, Hepatic fibrosis, Polycystic ki... |
OMIM:311200 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Abnormal temper tantrums, A... |
ORPHA:449291 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Babinski sign, Seizure, Dystonia, Spasticity |
OMIM:618186 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Aggressive behavior |
ORPHA:85279 |
Pure Autonomic Failure |
|
Dysuria, Impotence, Urinary incontinence |
ORPHA:441 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Bilateral tonic-clonic seizure |
OMIM:618832 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... |
ORPHA:513456 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Eosinophilic Gastroenteritis |
|
Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia |
ORPHA:2070 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Amish Lethal Microcephaly |
|
Organic aciduria, Bilateral tonic-clonic seizure, Limb hypertonia |
ORPHA:99742 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Comp... |
ORPHA:646 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Bilateral tonic-clonic seizure, Small ... |
OMIM:257300 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Bullous Pemphigoid |
|
Urticaria, Erythema, Weight loss |
ORPHA:703 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Sparse hair, Agenesis of corpus callosum, Hydronephrosis, Ventriculomegaly |
OMIM:616449 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlip... |
OMIM:232240 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Anorexia, Weight loss |
ORPHA:2494 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Failure to thrive, Polyphagia |
ORPHA:95427 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Methylmalonic aciduria |
OMIM:275350 |
Colchicine Poisoning |
|
Hyponatremia, Alopecia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophos... |
ORPHA:31824 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Long penis, Hypokal... |
ORPHA:90795 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Bilateral tonic-clonic seizure, Paraparesis, Jaundice, Paraplegia, ... |
ORPHA:79124 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail |
OMIM:619721 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
Pitt-Hopkins Syndrome |
|
Incoordination, Hyperconvex nail, Supernumerary nipple, Cryptorchidism, Gait ataxia, Seizure, Sel... |
OMIM:610954 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper... |
ORPHA:77293 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Systemic Sclerosis |
|
Alopecia, Renal insufficiency, Proteinuria, Elevated circulating creatine kinase concentration, N... |
ORPHA:90291 |
Mercury Poisoning |
|
Anorexia, Tremor, Seizure, Hypokalemia, Dystonia, Acute kidney injury |
ORPHA:330021 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Seizure, Myoclonus... |
ORPHA:206436 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bilateral tonic-clonic seizure, Bladder diverticulum, Palmoplantar cutis laxa, Atonic seizure, Hi... |
ORPHA:2976 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
46,Xy Sex Reversal 6 |
|
Hirsutism, Sparse axillary hair |
OMIM:613762 |
Aggressive Systemic Mastocytosis |
|
Flushing, Urticaria, Anorexia, Weight loss |
ORPHA:98850 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Nail dystrophy, Bilateral tonic-clonic seizure |
OMIM:618165 |
Serotonin Syndrome |
|
Restlessness, Clonus, Tremor, Rigidity, Seizure, Hypertonia, Agitation, Myoclonus, Acute kidney i... |
ORPHA:43116 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Polysplenia, Anemia |
OMIM:619418 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Proteinuria, Abnormal circulating fatty-acid concentration, Biliary cirrhosis, Hypotrig... |
ORPHA:2298 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Focal-onset seizure, Inability to walk, Spastic tetraplegia, Spastic... |
ORPHA:300570 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin... |
OMIM:268130 |
Glossopharyngeal Neuralgia |
|
Seizure, Weight loss, Vocal cord paralysis, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Meningioma |
|
Hemifacial spasm, Abnormal central motor function, Hypogonadotropic hypogonadism, Urinary inconti... |
ORPHA:2495 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Alopecia, Urethral stenosis, Fine hair, Premature graying of hair, Nail dyspl... |
OMIM:613990 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia, Elevated gamma... |
OMIM:608885 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Oculodentodigital Dysplasia |
|
Curly hair, Neurogenic bladder, Brittle hair, Ataxia, Abnormal fingernail morphology, Slow-growin... |
ORPHA:2710 |
Hyper-Igd Syndrome |
|
Recurrent infections, Chronic oral candidiasis, Molluscum contagiosum, Renal angiomyolipoma, Elev... |
OMIM:260920 |
Scarf Syndrome |
|
Low anterior hairline, Cutis laxa, Low posterior hairline, Perineal hypospadias, Hypoplastic nipp... |
OMIM:312830 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Impotence, Oligomenorrhea, Pallor |
ORPHA:95613 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Bilateral tonic-clonic seizure, Hypercalcemia, Hypercalciuria, Renal cyst, ... |
ORPHA:369837 |
Bartsocas-Papas Syndrome |
|
Alopecia totalis, Renal hypoplasia/aplasia, Hypoplastic toenails, Sparse or absent eyelashes, Apl... |
ORPHA:1234 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Failure to thrive, Aggressive behavior, Synophrys, Seizure, Long eyelashes, Dyspha... |
ORPHA:319182 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Periodic paralysis, Weight loss |
OMIM:188580 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Incoordination, Supernumerary nipple, Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Norrie Disease |
|
Clonus, Cachexia, Cryptorchidism, Self-injurious behavior, Seizure, Hypertonia, Erectile dysfunct... |
ORPHA:649 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry... |
ORPHA:2309 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... |
ORPHA:91500 |
W Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure, Abnormality of the scalp hair |
ORPHA:2804 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
1Q44 Microdeletion Syndrome |
|
Vesicoureteral reflux, Synophrys, Bilateral tonic-clonic seizure, Horseshoe kidney |
ORPHA:238769 |
Ane Syndrome |
|
Motor neuron atrophy, Alopecia |
ORPHA:157954 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... |
OMIM:241080 |
Lynch Syndrome |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Seizure, Hypertonia, Gait disturban... |
ORPHA:144 |
Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Hypopigmented skin patches, Nail dystrophy, Abnormality of the na... |
ORPHA:678 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Increased iduronate sulfatase level, Increased serum beta-hexosaminid... |
OMIM:252500 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Hepatomegaly |
OMIM:601979 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Supernumerary nipple, Aggressive behavior, Unsteady gait, Seizure, Abnormal temper tantru... |
ORPHA:457279 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep... |
OMIM:615415 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Elevated circulating alpha-fetoprotein concentration, Erythe... |
ORPHA:420741 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Infantile spa... |
OMIM:618733 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Abnormal hair morphology, Alopecia, Thin nail, Small nail |
OMIM:242100 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Hypokalemia,... |
ORPHA:699 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity, Dry... |
OMIM:618527 |
Macrocephaly-Developmental Delay Syndrome |
|
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Dystonia, Involuntary movements, Oculogyric crisis, Rigidity, Focal-on... |
ORPHA:217253 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Paralysis,... |
ORPHA:79102 |
Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
Seckel Syndrome |
|
Sparse scalp hair, Prematurely aged appearance |
ORPHA:808 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Ataxia, Hypouricemia, Increased circulating guanosine concent... |
OMIM:613179 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue |
ORPHA:1901 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias... |
ORPHA:90797 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Polycystic ovaries, Xanthelasma, Hyper... |
ORPHA:79259 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Ataxia, Tremor, Hyperbilirubinemia, Myoglobinuria |
ORPHA:713 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Premature ovarian insufficiency, Small for gestational age, Alopecia totalis, Cryptor... |
ORPHA:221008 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concent... |
OMIM:600092 |
Joubert Syndrome 6 |
|
Ataxia, Stage 5 chronic kidney disease, Nephronophthisis, Oculomotor apraxia, Abnormal repetitive... |
OMIM:610688 |
Steinert Myotonic Dystrophy |
|
Alopecia, Hypergonadotropic hypogonadism, Oral-pharyngeal dysphagia, Aggressive behavior, Inabili... |
ORPHA:273 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Reduced su... |
OMIM:269700 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Nephropathy, Alopecia, Hepatomegaly |
ORPHA:809 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe... |
OMIM:614008 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Bilateral renal hypoplasia, Hyperechog... |
OMIM:619695 |
Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Splenomegaly, Woolly hair, Renal hypoplasia... |
ORPHA:84064 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Urinary urgency, Pollakisur... |
ORPHA:447753 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Obesity, Weight loss, Seizure, Attention deficit hyperactivity disorder |
ORPHA:251071 |
Omenn Syndrome |
|
Splenomegaly, Hepatomegaly, Alopecia, Hypoproteinemia |
OMIM:603554 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bruising susceptibility, Pallor, Weight loss |
ORPHA:3226 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating alkaline phosphatase concentration, Alopecia universalis, Hypocalcemic seizu... |
OMIM:277440 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Broad-based gait, Ataxia, Cryptorchidism, Synophrys, Dysmetria, Gait ataxia, Dysp... |
OMIM:617330 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Curly hair, Hyperactivity, Sparse scalp hair, Large for gestational... |
OMIM:607721 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse e... |
ORPHA:1071 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... |
ORPHA:48435 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia, Weight loss |
ORPHA:514 |
White-Sutton Syndrome |
|
Duplicated collecting system, Hyperactivity, Incoordination, Aggressive behavior, Obesity, Seizur... |
ORPHA:468678 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Hermansky-Pudlak Syndrome 10 |
|
Albinism, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Dystonia |
OMIM:617050 |
Mogs-Cdg |
|
Hepatomegaly, Alopecia, Hepatosplenomegaly, Long eyelashes, Fair hair, Hirsutism |
ORPHA:79330 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Cafe-au-lait spot |
OMIM:250410 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Nephrolithiasis, Hypercalciuria, Atypical absence status epilepticus, We... |
ORPHA:652 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Reduced su... |
OMIM:608594 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Clumsiness, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Abno... |
OMIM:615656 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Sparse eyelashes, Increased circulating free fatty acid level |
OMIM:610768 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Generalized abnormality of skin, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair, Ataxia, Nephrocalcinosis, Seizure, Aminoaciduria |
OMIM:616084 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Poor wound healing, Excessive wrinkled skin, Bladder diverticulum, Palmoplantar cutis laxa, Bruis... |
OMIM:225400 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati... |
OMIM:615356 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... |
ORPHA:464 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cryptorchidism, Alopecia, Hypertriglyceridemia |
ORPHA:536532 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Dry hair, Ataxia, Slow-growing hair, Paraparesis, Fine hair, Seizure, Tetrapa... |
OMIM:164200 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, High... |
OMIM:301044 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Urinary incontinence, Tremor, Seizure, Tip-toe gait, Gait disturbance, De... |
ORPHA:512 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... |
OMIM:619377 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Cutis laxa, Dermal translucency |
OMIM:615349 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Nail dysplasia, Dysphagia |
OMIM:226600 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Asplenia, Hepatitis, Chronic hepatitis, Cirrhosis, Exocrine pancreatic insufficiency |
OMIM:269200 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Proteinuria, Elevated circulating creatine kinase... |
ORPHA:94093 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Hepatosplenomegaly |
ORPHA:169154 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Dysp... |
ORPHA:1018 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Synophrys, Generalized non-motor ... |
OMIM:301091 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Cryptorchidism, Unsteady gait, Seizure, Sparse hair, Nail dysplasia, Loss of ambulat... |
OMIM:616682 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Elevated circulating creatin... |
ORPHA:565612 |
Gaucher Disease |
|
Proteinuria, Bilateral tonic-clonic seizure, Elevated circulating C-reactive protein concentratio... |
ORPHA:355 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:256040 |
Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Hypercalcemia, Testicular neoplasm, Renal hamartoma, Nephrolithi... |
ORPHA:143 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Onyc... |
OMIM:248370 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... |
OMIM:607485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Aggressive behavior, Patchy alopecia, Cholelithiasis, Micropenis, Th... |
OMIM:300534 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Pancreatic steatosis, Nail dystrophy, Small nail, Hyperechogenic pancreas, S... |
OMIM:617052 |
Neutral Lipid Storage Myopathy |
|
Pineal cyst, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Abnormal repetitive mannerisms, Seizure, Ataxia |
ORPHA:2479 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Menometrorrhagia, Hypopigmentation of hair, Anorexia, Weight loss, Long eyel... |
ORPHA:79430 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... |
ORPHA:50814 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Weight loss |
ORPHA:3165 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hypoplastic toenails, Hair-pulling, Obesity, Hydronephrosis, Seizure, Long eyelash... |
ORPHA:48652 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Cryptorchidism, Seizure, Long eyelashes, Attention deficit hyperactivity d... |
OMIM:619005 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Kid Syndrome |
|
Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Scarring alopecia of scalp, Trichi... |
ORPHA:477 |
Noonan Syndrome With Multiple Lentigines |
|
Hypospadias, Cryptorchidism, Decreased fertility, Abnormal localization of kidney, Excessive wrin... |
ORPHA:500 |
Bronchial Neuroendocrine Tumor |
|
Facial telangiectasia, Dermatological manifestations of systemic disorders, Anorexia, Weight loss |
ORPHA:97287 |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
Impotence |
OMIM:608088 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Hydroureter, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pu... |
OMIM:129900 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:3453 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Alopecia, Multicystic kidney dysplasia, Recurre... |
ORPHA:79404 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Small for gestational age, Oligozoospermia, Small nail, Nail dysplasia, Sparse hai... |
OMIM:614813 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Proteinuria, Dysmenorrhea, Weight loss, Hematuria, Infertility, Renal artery stenosi... |
ORPHA:71273 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of chromosome stability, Sparse eyebrow, Abnormality of the pancreas, M... |
ORPHA:175 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Head-banging, Renal tubular acidosis, Seizure, Self-injurious behavior, Attention def... |
OMIM:619575 |
Tuberous Sclerosis Complex |
|
Renal cyst, Ungual fibroma, Generalized abnormality of skin, Hyperactivity, Abnormality of the ki... |
ORPHA:805 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant skin, Tremor, ... |
ORPHA:904 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
Menkes Disease |
|
Hypopigmentation of hair, Chorea, Bladder diverticulum, Seizure, Hypertonia, Spontaneous hematoma... |
ORPHA:565 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Prominent veins on trunk, Weight loss |
ORPHA:97289 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Accessory spleen, Portal hypertension, Renal hypoplasia, Macronodu... |
OMIM:620005 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Angioedema, Erythema, Weight loss, Tubulointerstitial nephritis, Nephrotic s... |
ORPHA:139402 |
Joubert Syndrome 35 |
|
Abnormality of temperature regulation |
OMIM:618161 |
Nephroblastoma |
|
Hematuria, Nephroblastoma, Weight loss |
ORPHA:654 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A... |
OMIM:614947 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair, Renal hy... |
OMIM:181270 |
Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Alopecia, Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, H... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Alopecia, Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, H... |
ORPHA:363958 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy |
OMIM:618373 |
X Small Rings |
|
Premature ovarian insufficiency, Bilateral tonic-clonic seizure, Fetal pyelectasis, Primary ameno... |
ORPHA:96201 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low po... |
OMIM:617506 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Obesity, Cutaneous photosensitivity,... |
OMIM:618653 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Simple febr... |
ORPHA:464311 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Refractory Celiac Disease |
|
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Erythema, Skin ulcer, Weight loss, Dysp... |
ORPHA:537 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenes... |
ORPHA:464306 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Alopecia, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horsesho... |
ORPHA:2092 |
Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Prominent superficial veins, Prematurely aged appearance |
OMIM:601812 |
Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Ataxia, Weight loss, Polydipsia, Hyd... |
ORPHA:35687 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Abnormality of the kidney, Elevated circulating C-reactive protein co... |
ORPHA:54251 |
Geroderma Osteodysplastica |
|
Prematurely aged appearance, Redundant skin |
ORPHA:2078 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Epileptic spasm, Broad-based gait, Exaggerated startle response, Involuntary movements, Decreased... |
ORPHA:438213 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Hydronephros... |
ORPHA:35173 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Fetal pyelectasis, Synophrys, Low anterior hairline, Sparse hair, Micropenis, Hypospadias, Highly... |
OMIM:619841 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Small for gestational age, Sparse eyelashes, Alopecia totalis, Telangiectasia of the ... |
ORPHA:2909 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Abdominal situs inversus... |
ORPHA:2108 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Hepatitis, Nail dystrophy, Sparse hair, Abnormal ductus choledochus morphology, A... |
ORPHA:436252 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Neuroendocrine Tumor Of The Colon |
|
Facial telangiectasia, Anorexia, Weight loss |
ORPHA:100080 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy, Dysphagia |
OMIM:620040 |
Dpagt1-Cdg |
|
Epileptic spasm, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Focal motor se... |
ORPHA:86309 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Pallor, Weight loss |
ORPHA:35858 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Cholelithiasis, Elevated circulating creatine kinase concentration |
OMIM:618775 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Highly arched eyebrow, Frontal balding, Tremor, Synophrys, Genera... |
OMIM:612474 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Weight loss, Difficulty walki... |
OMIM:164310 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Abnormality of the kidney, Obesity, Head... |
ORPHA:177907 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Cachexia, Paralysis, Poo... |
ORPHA:2072 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormal pyramidal sign, Spasticity, Seiz... |
ORPHA:468631 |
Acromegaly |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Abnormal fingernail morphol... |
ORPHA:963 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Spastic tetraparesis, Increased circulating ferritin concentration, Tetrap... |
OMIM:615846 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Renal insufficiency, Dysuria, Abnormality of the urethra, Erythema, Weight loss, Dys... |
ORPHA:36426 |
Alkaptonuria |
|
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia |
ORPHA:1332 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hydrocephalus, Renal hypoplasia, Azotemia, Micropenis, Hepatic steatosis |
OMIM:619321 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Plethora, Anorexia, Increased body weight, Ecchymosis, Flushing, Poor wound healing, Secondary am... |
ORPHA:99889 |
Sotos Syndrome |
|
Ureteral duplication, Tremor, Vesicoureteral reflux, Flushing, Hypospadias, Abnormality of the ki... |
ORPHA:821 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hypogonadotropic hypogonadism, Frontal balding, Abnormality of the menstrual cycle,... |
ORPHA:90794 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
Igg4-Related Aortitis |
|
Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Testicular neoplasm, Weight loss |
ORPHA:83469 |
Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Somatomammotropinoma |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Dysuria, Dysmenorrhea, Abnormal fingernail morphol... |
ORPHA:314769 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Ventriculomegaly, Hypoalbuminemia, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair, Ureteropelvic junction obstruction, Failu... |
ORPHA:444072 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Hypospadias, Bilateral tonic-clonic seizure, Ataxia, Cryptorchidism, Focal-onset seizure, Inabili... |
ORPHA:459070 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
D-Bifunctional Protein Deficiency |
|
Bilateral tonic-clonic seizure, Renal cyst, Seizure, Increased circulating very long-chain fatty ... |
OMIM:261515 |
Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scaling skin, Nail dystrophy, Sparse hair, Fragile skin, Alopecia universalis |
ORPHA:158668 |
Pemphigus Vulgaris |
|
Urticaria, Weight loss |
ORPHA:704 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Elevated circulating creatine kinase concentration, Cachexia, Long e... |
ORPHA:800 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Tonic seizure, Cryptorchidism, Typical absence... |
OMIM:615873 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:261144 |
Neuroendocrine Tumor Of The Rectum |
|
Facial telangiectasia, Anorexia, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Facial telangiectasia, Anorexia, Weight loss |
ORPHA:100082 |
Immunodeficiency 7 |
|
Splenomegaly, Hepatomegaly, Patchy alopecia |
OMIM:615387 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... |
OMIM:272950 |
Familial Mediterranean Fever |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Peritonitis, S... |
OMIM:249100 |
Alveolar Echinococcosis |
|
Ataxia, Jaundice, Renal cyst, Weight loss, Hemiparesis, Seizure, Abnormal bladder morphology |
ORPHA:284 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97278 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Sparse body hair |
ORPHA:3068 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, Large for gestational age, Sparse eyebrow, Gait ataxia, Difficult... |
ORPHA:457359 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Alopecia universalis, Hepatosplenomegaly |
OMIM:606367 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia |
OMIM:618493 |
Parkinson Disease 21 |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism |
OMIM:616361 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Spastic tetraparesis, Progeroid facial appearance, Opisthotonus,... |
OMIM:614098 |
Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Marshall Syndrome |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Alopecia, Alopecia totalis, Hyperkalemia, Nail dystrophy, Abnormality of the periun... |
ORPHA:293978 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Elevated circulating C-reactive protein co... |
ORPHA:50918 |
Xeroderma Pigmentosum, Complementation Group B |
|
Progeroid facial appearance, Cutaneous photosensitivity, Hypogonadism, Ataxia |
OMIM:610651 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptor... |
ORPHA:1606 |
Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss |
ORPHA:2126 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97282 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Hypospadias, Cutis marmorata, Cryptorchidism, Cutis laxa, Chordee, Sparse ... |
OMIM:151050 |
Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... |
OMIM:601104 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Abnormality of temperature regulation |
OMIM:619173 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Ectopic kidney, Absent eyelashes, ... |
OMIM:263650 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Small for gestational age, Alopecia totalis, Cryptorchidism, Erythema, Facial erythem... |
ORPHA:221016 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Hypospadias, Phimosis, Urethral stenosis, Pt... |
OMIM:305000 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Biliary cirrhosis, Hepatitis, Tubulointerstitial nephritis, Aplasia/Hypoplasia of the s... |
ORPHA:227990 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Sm... |
OMIM:308050 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Ataxia, Anorexia, Orchitis, Abnormal pyramidal sign, Weight ... |
ORPHA:117 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, Truncal ataxia, Ato... |
OMIM:620066 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Hepatic steatosis, Urinary incontinence, Attention deficit hyperactivity disorder |
OMIM:619934 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, High urinary gonadotropi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, High urinary gonadotropi... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, High urinary gonadotropi... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, High urinary gonadotropi... |
ORPHA:881 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:2612 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fertility in females, Sparse... |
ORPHA:90796 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Relapsing Polychondritis |
|
Glomerulopathy, Alopecia, Renal insufficiency, Proteinuria, Hepatitis, Hematuria |
ORPHA:728 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Biliary cirrhosis, Hepatitis, Tubulointerstitial nephritis, Aplasia/Hypoplasia of the s... |
ORPHA:227982 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Chronic Graft Versus Host Disease |
|
Alopecia, Anorexia, Phimosis, Poor wound healing, Urinary bladder inflammation, Erythema, Skin ul... |
ORPHA:99921 |
Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Jaundice, Weight loss... |
ORPHA:160 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Epileptic spasm, Hydroureter, Alopecia, Abnormality of the kidney, Abnormality of the upper urina... |
ORPHA:2636 |
Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Abnormality of the ... |
ORPHA:813 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Inability to walk, Horseshoe kidney, Opisthotonus, Seizure, Hypertonia... |
ORPHA:508533 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Hydroureter, Thin fingernail, Abnormality of the kidney, Abnormality of... |
ORPHA:2273 |
Malignant Atrophic Papulosis |
|
Seizure, Telangiectasia of the skin, Abnormality of the lower urinary tract, Weight loss |
ORPHA:679 |
Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Monosomy 22 |
|
Sparse hair, Micropenis, Synophrys, Hepatosplenomegaly |
ORPHA:96123 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Cryptorchi... |
ORPHA:322 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Weight loss |
ORPHA:86884 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Aggressive behavior, Narcolepsy, Hyperlipidemia, Hyp... |
ORPHA:293987 |
Neuroendocrine Tumor Of Stomach |
|
Facial telangiectasia, Dermatological manifestations of systemic disorders, Anorexia, Weight loss |
ORPHA:100075 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Hyperto... |
OMIM:602535 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Partial agenesis of the corpus callosum, Hyd... |
OMIM:210710 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:90003 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2396 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Ventriculomegaly, Sparse eyebrow, Hypocholesterolemia |
OMIM:244450 |
Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Sparse hair, Thick eyebrow |
OMIM:609460 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
Q Fever |
|
Hematuria, Purpura, Anorexia, Weight loss |
ORPHA:781 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... |
ORPHA:158687 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Splenomegaly, Low posterior hairline, Hepatosplenomegaly, Fine hair, Spars... |
OMIM:613563 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ... |
ORPHA:508 |
Felty Syndrome |
|
Recurrent urinary tract infections, Weight loss |
ORPHA:47612 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Brucellosis |
|
Small for gestational age, Glomerulonephritis, Elevated circulating C-reactive protein concentrat... |
ORPHA:1304 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Cyanosis, Abnormal circulating calcium concentration, Decreased fertilit... |
ORPHA:60025 |
Primrose Syndrome |
|
Restlessness, Sparse scalp hair, Hypergonadotropic hypogonadism, Ataxia, Elevated circulating alp... |
OMIM:259050 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Bilateral tonic-clonic seizure |
ORPHA:436159 |
Microsporidiosis |
|
Anorexia, Cachexia, Prostatitis, Urethritis, Weight loss, Seizure, Abnormality of the urinary sys... |
ORPHA:2552 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Forehead hyperpigmentation |
OMIM:607812 |
Ring Chromosome 13 Syndrome |
|
Alopecia, Hypoplasia of the gallbladder, Hypospadias, Abnormal renal physiology, Micropenis, Agen... |
ORPHA:96176 |
Goodpasture Syndrome |
|
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuri... |
OMIM:233450 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Redundant skin, Progeroid facial appearance, Cutis laxa, Multiple bladder diver... |
OMIM:613177 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Nodular Non-Suppurative Panniculitis |
|
Erythema, Weight loss |
ORPHA:33577 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Chime Syndrome |
|
Abnormality of the kidney, Erythema, Skin ulcer, Fine hair, Seizure, Sparse hair, Hydronephrosis |
ORPHA:3474 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior,... |
ORPHA:353281 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Cyanosis, Weight loss |
ORPHA:747 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Prematurely aged appearance, Redundant skin |
ORPHA:3342 |
Saul-Wilson Syndrome |
|
Prominent superficial veins, Progeroid facial appearance |
OMIM:618150 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance |
OMIM:616914 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair, Cafe-au-lait spot |
OMIM:614114 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Redundant neck skin, Focal-onset seizure, Typical absence sei... |
OMIM:617157 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormal fingernail morphology, Abnorma... |
ORPHA:2036 |
Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Alopecia, Hypoplasia of penis, Long eyelashes, Fingernail dysplasia... |
ORPHA:1507 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Anorexia, Weight loss |
ORPHA:100086 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Multicystic kidney dysplas... |
OMIM:308205 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Cachexia, Abnormal hair morphology, Low anterior hairline, Pollakisuria, ... |
ORPHA:647 |
Dermatomyositis |
|
Abnormal hair quantity, Telangiectasia of the skin, Erythema, Skin ulcer, Weight loss, Dry skin, ... |
ORPHA:221 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Hypospadias, Small for gestational age, Cryptorchidism, Poor coordination, Spastic... |
OMIM:309590 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, Redundant skin, Prematurely aged appearance, Cryptorchidi... |
ORPHA:2658 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Hepatic... |
OMIM:619534 |
Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, Alopecia, Hypoplasia of penis, Hypospadias, Curly eyelashes, Epispadia... |
ORPHA:3107 |
Myhre Syndrome |
|
Small for gestational age, Ataxia, Cryptorchidism, Obesity, Fine hair, Seizure, Sparse hair, Thic... |
OMIM:139210 |
Sarcoidosis |
|
Hepatomegaly, Alopecia, Renal insufficiency, Hypercalcemia, Portal hypertension, Nephrolithiasis,... |
ORPHA:797 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Anorexia, Cachexia, Abnormal subcutaneous fat tissue distribution, Urinary... |
ORPHA:1328 |
Van Esch-O'Driscoll Syndrome |
|
Hypogonadotropic hypogonadism, Impulsivity, Unilateral vocal cord paralysis, Seizure, Attention d... |
OMIM:301030 |
Systemic Lupus Erythematosus |
|
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Hematuria |
ORPHA:536 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ... |
OMIM:609242 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Flushing, Urticaria, Pallor, Weight loss |
ORPHA:98849 |
Oliver Syndrome |
|
Hyperconvex fingernails, Thick eyebrow, Bilateral tonic-clonic seizure, Supernumerary nipple |
ORPHA:2920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Multifocal seizures, Aggressive behavior, Synophrys, Obesity, Seizure, Abnormal repetitive manner... |
OMIM:301066 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Arterial Tortuosity Syndrome |
|
Progeroid facial appearance, Bruising susceptibility, Telangiectases of the cheeks, Cutis laxa |
OMIM:208050 |
Carney-Stratakis Syndrome |
|
Weight loss, Dysphagia |
ORPHA:97286 |
Mucolipidosis Type Ii |
|
Dry hair, Inability to walk, White hair, Fine hair, Weight loss, Telangiectases of the cheeks |
ORPHA:576 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Hypospadias, Redundant skin, Prematurely aged appearance, Abnormality of hair texture, ... |
ORPHA:286 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Sparse eyebrow, Vesicoureteral reflux, Lateral ventricle dilatation, Sp... |
OMIM:619869 |
Leprosy |
|
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Abnormality of the liver,... |
ORPHA:548 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cutaneous photosensitivity, Cachexia |
ORPHA:3217 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes... |
OMIM:619522 |
Machado-Joseph Disease Type 1 |
|
Abnormality of temperature regulation |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Abnormality of temperature regulation |
ORPHA:276241 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Sparse eyebrow, Hypoplastic nipples, Unconjugated hyperbilirubinemia, Prolonged ne... |
OMIM:620186 |
Familial Pancreatic Carcinoma |
|
Jaundice, Anorexia, Weight loss |
ORPHA:1333 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Leptospirosis |
|
Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Elevated serum trans... |
ORPHA:509 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Dilated third ventricle, Urinary incontinence |
ORPHA:314404 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Bilateral tonic-clonic seizure, Abnormal finge... |
ORPHA:79500 |
Machado-Joseph Disease Type 3 |
|
Abnormality of temperature regulation |
ORPHA:276244 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Dystonia, Highly arched eyebrow, Bilateral cryptorchidism, Se... |
OMIM:616268 |
Glucagonoma |
|
Hypercalcemia, Anorexia, Necrolytic migratory erythema, Intermittent jaundice, Weight loss, Subcu... |
ORPHA:97280 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hypoca... |
OMIM:243800 |
Pudendal Neuralgia |
|
Pollakisuria, Dyspareunia, Impotence, Dysuria |
ORPHA:60039 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cutis marmorata, Cachexia, Telangiectasia, Seizure, Subcutaneous hemorrhage |
ORPHA:109 |
Coffin-Siris Syndrome 12 |
|
Sparse scalp hair, Hypospadias, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior ha... |
OMIM:619325 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Brittle hair, Supernumerary nipple, Hydrocephalus, Horseshoe k... |
OMIM:305600 |
Somatostatinoma |
|
Hypercalcemia, Anorexia, Intermittent jaundice, Weight loss, Subcutaneous lipoma |
ORPHA:97283 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Bilateral cryptorchidism, Redundant skin in infancy, Dry skin, Cutis laxa, Hem... |
OMIM:150230 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Classical Ehlers-Danlos Syndrome |
|
Striae distensae, Prematurely aged appearance, Poor wound healing, Bladder diverticulum, Ecchymos... |
ORPHA:287 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Grfoma |
|
Hypercalcemia, Anorexia, Intermittent jaundice, Weight loss, Subcutaneous lipoma |
ORPHA:97261 |
Thymoma |
|
Glomerulonephritis, Weight loss |
ORPHA:99867 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hyperactivity, Hypos... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hyperactivity, Hypos... |
ORPHA:353277 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Renal insufficiency, Ventriculomegaly, Thin nail, Concave nail, Hydro... |
OMIM:218040 |
Phakomatosis Pigmentokeratotica |
|
Renal transitional cell carcinoma, Unilateral renal hypoplasia, Patchy alopecia, Hypophosphatemic... |
ORPHA:2874 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
X-Linked Intellectual Disability, Armfield Type |
|
Cryptorchidism, Seizure, Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
Trisomy 18 |
|
Cachexia, Abnormality of the upper urinary tract, Cryptorchidism, Hypertonia, Abnormal toenail mo... |
ORPHA:3380 |
Branchioskeletogenital Syndrome |
|
Absent nipple, Ureteral stenosis, Highly arched eyebrow, Synophrys, Periorbital wrinkles, Micrope... |
ORPHA:1299 |
Renpenning Syndrome 1 |
|
Brittle hair, Hypospadias, Phimosis, Renal hypoplasia, Seizure, Sparse hair, Spasticity, Decrease... |
OMIM:309500 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Polycythemia Vera |
|
Bruising susceptibility, Weight loss |
ORPHA:729 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Weight loss |
ORPHA:67 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Jaundice, Erythema, Weight loss |
ORPHA:913 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Pancreatoblastoma |
|
Jaundice, Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine... |
ORPHA:1662 |
Chronic Mucocutaneous Candidiasis |
|
Abnormality of temperature regulation |
ORPHA:1334 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Hyperlipidemia, Genera... |
ORPHA:91 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail, Ventriculomegaly |
OMIM:100300 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Familial Thrombocytosis |
|
Seizure, Weight loss |
ORPHA:71493 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperlipidemia, Aplasia/Hypoplasia of the eyebrow, Micropenis |
ORPHA:3464 |
Granulomatosis With Polyangiitis |
|
Skin ulcer, Weight loss |
OMIM:608710 |
Vici Syndrome |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Albinism |
OMIM:242840 |
Hartsfield Syndrome |
|
Hypospadias, Bilateral tonic-clonic seizure, Cryptorchidism, Micropenis, Hypernatremia |
OMIM:615465 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Abnormal repetiti... |
ORPHA:508498 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Pyomyositis |
|
Renal insufficiency, Weight loss, Testicular teratoma |
ORPHA:764 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, Abnormal re... |
ORPHA:2152 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Dystrophic fingernails, Abnormality of the nail, Weight loss |
ORPHA:29207 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Ileal Neuroendocrine Tumor |
|
Dermatological manifestations of systemic disorders, Hydronephrosis, Weight loss |
ORPHA:100078 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... |
OMIM:619488 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, Abnormal re... |
ORPHA:261537 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Abnormal temper tantrums, Abnormal repe... |
ORPHA:580 |
Congenital Fiber-Type Disproportion Myopathy |
|
Weight loss, Failure to thrive, Dysphagia |
ORPHA:2020 |
Behcet Syndrome |
|
Patchy alopecia, Decreased level of D-mannose in urine |
OMIM:109650 |
Roberts Syndrome |
|
Sparse hair, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Anorexia, Weight loss, Hypoalbuminemia, Va... |
OMIM:619381 |
Lambert-Eaton Myasthenic Syndrome |
|
Impotence |
ORPHA:43393 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Small for gestational age, Highly arched eyebrow, Cryptorchidism, Low posterior hair... |
OMIM:194190 |
Nocardiosis |
|
Seizure, Anorexia, Weight loss |
ORPHA:31204 |
Orofaciodigital Syndrome Type 2 |
|
Bilateral tonic-clonic seizure, Thick hair |
ORPHA:2751 |
Sympathetic Ophthalmia |
|
Alopecia, Poliosis |
ORPHA:79098 |
Rat-Bite Fever |
|
Scaling skin, Weight loss |
ORPHA:31205 |
Sarcoidosis, Susceptibility To, 1 |
|
Hypercalciuria, Anorexia, Weight loss |
OMIM:181000 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
Ulnar-Mammary Syndrome |
|
Abnormality of temperature regulation |
ORPHA:3138 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, Abnormal re... |
ORPHA:261552 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Supernumerary nipple, Renal cyst, Low posterior hairline, Premature ... |
OMIM:113620 |
Tropical Pancreatitis |
|
Jaundice, Weight loss |
ORPHA:103918 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormality of temperature regulation |
OMIM:209880 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Bilateral tonic-clonic seizure with focal onset, Highly arched eyebr... |
OMIM:147920 |
Juvenile Polyposis Of Infancy |
|
Subcutaneous lipoma, Hypoalbuminemia, Cachexia |
ORPHA:79076 |
Marfan Syndrome |
|
Cachexia, Striae distensae, Slender build, Attention deficit hyperactivity disorder |
ORPHA:558 |
Holoprosencephaly 14 |
|
Bilateral tonic-clonic seizure |
OMIM:619895 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Ovarian neopl... |
ORPHA:744 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Dysphagia, Hydronephrosis, Hirsutism |
OMIM:619472 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal eyelash morphology, Hypopigmentation of hair |
ORPHA:818 |
Deeah Syndrome |
|
Abnormality of temperature regulation |
OMIM:619004 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Menke-Hennekam Syndrome 1 |
|
Cryptorchidism, Seizure, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:618332 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:301074 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Hypospadias, Supernumerary nipple, Sparse eyebrow,... |
OMIM:601803 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Hydrocephalus, Long penis, Biliary tract abnormality, Horseshoe ki... |
OMIM:268300 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Alström Syndrome |
|
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Frontal balding, Tes... |
ORPHA:64 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Waddling gait, Failure to thrive, Unilateral renal agenesis, D-2-hydroxyglutaric aciduria, Dry skin |
ORPHA:99646 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Weight loss |
ORPHA:79078 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of temperature regulation |
ORPHA:667 |
Stickler Syndrome |
|
Hemiplegia/hemiparesis, Slender build, Cachexia |
ORPHA:828 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Cachexia |
ORPHA:75565 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |