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Gene: Otc MGI:97448

Gene Summary

Name:

ornithine transcarbamylase

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating triglyceride level	Otc^em1(IMPC)Tcp	HET	Early adult	2.69×10^-05
enlarged thymus	Otc^em1(IMPC)Tcp	HET	Early adult	0.00
absent vibrissae	Otc^em1(IMPC)Tcp	HET	Early adult	9.56×10^-05
increased circulating alanine transaminase level	Otc^em1(IMPC)Tcp	HET	Early adult	1.12×10^-09

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

6 Images

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Eye Morphology

Images Ophthalmoscopy

53 Images

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X-ray

XRay Images Skull Lateral Orientation

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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Gross Pathology and Tissue Collection

Images

6 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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Human diseases caused by Otc mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Otc (2 diseases)
Human diseases predicted to be associated with Otc (2454 diseases)

The table below shows human diseases associated to Otc by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ornithine Transcarbamylase Deficiency		Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia	ORPHA:664
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To		Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen...	OMIM:311250

The table below shows human diseases predicted to be associated to Otc by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	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	Restlessness, Bilateral tonic-clonic seizure, Clumsiness, Focal impaired awareness seizure	OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Cutaneous photosensitivity, Bilateral tonic-clonic seizure	OMIM:608762
3-Methylglutaconic Aciduria Type 9	Urinary incontinence, Clonus, Aggressive behavior, Seizure, 3-Methylglutaconic aciduria, Status e...	ORPHA:505216
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Elevated circulating aspartate aminotransferase co...	OMIM:620300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Hypoplastic toenails, M...	OMIM:608836
5-Oxoprolinase Deficiency	Reduced 5-oxoprolinase level, Increased level of L-pyroglutamic acid in urine, Prolinuria, Calciu...	OMIM:260005
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle...	ORPHA:2500
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ...	OMIM:615362
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, O...	ORPHA:208447
Autism, Susceptibility To, X-Linked 3	Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior	OMIM:300425
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem...	ORPHA:3111
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Cutis Laxa, Autosomal Recessive, Type Iiia	Prominent superficial blood vessels, Cryptorchidism, Low plasma citrulline, Hyperammonemia, Cutis...	OMIM:219150
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly	ORPHA:294
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:300555
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating...	ORPHA:99901
Beta-Ketothiolase Deficiency	Ketonuria, Ataxia, Anorexia, Hyperammonemia, Weight loss, Seizure, Agitation, Hyperuricemia, Extr...	ORPHA:134
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Sandhoff Disease, Adult Form	Dystonia, Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia...	ORPHA:309169
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I...	OMIM:619701
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Opisthotonus, Seizure, Elevated urinary 3-methylcrotonylglycine ...	OMIM:210200
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ...	OMIM:616981
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg...	ORPHA:86909
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Dry skin, Sparse body hair	OMIM:618535
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Seizure, Lethargy, ...	OMIM:237300
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er...	OMIM:104100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Ataxia, Small for gestational age, Cryptorchidism, Seizure, Hypogonadism, Long eyelashe...	ORPHA:3363
Developmental And Epileptic Encephalopathy 97	Epileptic spasm, Tremor, Inability to walk, Seizure, Stereotypical hand wringing	OMIM:619561
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Motor tics, Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwhee...	OMIM:619725
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking	OMIM:613608
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Short Chain Acyl-Coa Dehydrogenase Deficiency	Dystonia, Elevated circulating acylcarnitine concentration, Seizure, Hypertonia, Ethylmalonic aci...	ORPHA:26792
Biotinidase Deficiency	Hepatomegaly, Alopecia, Splenomegaly, Hyperammonemia, Organic aciduria, Decreased circulating bio...	OMIM:253260
Autism	Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior	OMIM:209850
Episodic Ataxia, Type 9	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	Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Synophrys, Unsteady gait, Seizure, Spa...	OMIM:620317
Autism, Susceptibility To, 8	Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior	OMIM:607373
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Sudden Infant Death Syndrome	Malignant hyperthermia	OMIM:272120
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Seizure, Smal...	OMIM:619470
Manganese Poisoning	Decreased female libido, Postural tremor, Dystonia, Akinesia, Aggressive behavior, Hypersexuality...	ORPHA:306682
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Tonic seizure, Bilateral tonic-clonic seizure, Infa...	OMIM:619428
Epilepsy, Familial Adult Myoclonic, 5	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	Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive...	OMIM:619827
Polymicrogyria, Bilateral Temporooccipital	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	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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Otc

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Otc.

No publications found that use IMPC mice or data for Otc.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Otc^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Otc^{tm3a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Otc^{tm3e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Otc^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Otc^{tm361391(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Otc^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Otc^em1(IMPC)Tcp	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Otc MGI:97448

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Otc mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data