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Gene: Degs1 MGI:1097711

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Gene Summary

Name:
delta 4-desaturase, sphingolipid 1
Synonyms:
Mdes,  Des1

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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Degs1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal eye morphology Degs1em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Degs1 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.

The table below shows human diseases associated to Degs1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leukodystrophy, Hypomyelinating, 18
Babinski sign, Flexion contracture, Spastic tetraplegia, Dysmetria, Feeding difficulties, Progres... OMIM:618404

The table below shows human diseases predicted to be associated to Degs1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... OMIM:620010
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Edinburgh Malformation Syndrome
Frontal hirsutism, Failure to thrive, Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n... OMIM:619256
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Ataxia, Growth delay, Long eyelashes, Sparse hair, Neonatal ... ORPHA:3363
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... ORPHA:79234
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Episodic vomi... OMIM:615160
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Clonus, Protein avoidance, Poor coordination, Abnormal pyramidal s... OMIM:238970
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616974
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Tetraplegia/tetraparesis, Rigidity, Sparse eye... ORPHA:2269
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Sandhoff Disease, Adult Form
Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentration, Tremor,... ORPHA:309169
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Elevated circulating phytanic aci... OMIM:614877
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Epidermal acanthosis, Absent facial hair, Abnorma... ORPHA:90368
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, R... OMIM:613280
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:617093
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Di... OMIM:235555
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... ORPHA:3111
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Osteopenia And Sparse Hair
Osteopenia, Sparse hair, Joint laxity OMIM:259690
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... ORPHA:570422
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Erythema, Palmoplantar scaling skin, Scaling skin, Decreased movement range in inte... ORPHA:530838
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Spastic tetraparesis, Hyperglutaminemia, Hyperprolinemia, Abnormal... OMIM:616299
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... ORPHA:247598
Malaria
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyp... ORPHA:673
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Jaundice, Increased body weight, Inc... ORPHA:890
Graft Versus Host Disease
Limited elbow movement, Gastrointestinal inflammation, Vomiting, Scaling skin, Acute hepatitis, S... ORPHA:39812
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Atax... ORPHA:263501
Aicardi-Goutieres Syndrome 5
Feeding difficulties in infancy, Flexion contracture, Scaling skin, Spasticity, Dry skin, Thrombo... OMIM:612952
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjuga... OMIM:211600
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Generalized dyst... ORPHA:70472
Congenital Disorder Of Glycosylation, Type Ir
Osteopenia, Chronic constipation, Gastroesophageal reflux, Decreased liver function, Failure to t... OMIM:614507
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Epiphyseal stippling, Decreased liver function, Ne... OMIM:614870
Galactosemia I
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di... OMIM:230400
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Classic Galactosemia
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Incoordination, Ataxia, Postural tre... ORPHA:79239
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... ORPHA:42
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Feeding difficulti... OMIM:246900
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... ORPHA:2394
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Thick hair, Splenomegaly, Chronic diarrhea, ... OMIM:613489
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... ORPHA:101330
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Fair hair, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymp... OMIM:269920
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eye... ORPHA:35173
Citrullinemia Type I
Torticollis, Ataxia, Slurred speech, Hyperammonemia, Feeding difficulties, Ankle clonus, Vomiting... ORPHA:247525
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Peroxisome Biogenesis Disorder 5B
Joint laxity, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Decrea... OMIM:614867
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Cholelithiasis, Hepatic failure, Growth delay, Hype... OMIM:614886
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Psoriasiform lesion, Hypercalcemia, Abnormal lactate dehydrogenase... ORPHA:284426
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Hijazi-Reis Syndrome
Lower limb spasticity, Postnatal growth retardation, Ankle clonus, Chronic constipation, Gastroes... OMIM:301094
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Abdominal distention, Diarrhea, Elevated circulating creatinine c... OMIM:608104
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Small for gestational age, Postnatal growth retardation, Osteoporosis, Low anterio... ORPHA:73272
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Growth delay, Sparse hair OMIM:246500
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... OMIM:616719
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... ORPHA:2924
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hepatic failure, Elevated circulating creatinine concentration, Vomit... OMIM:617872
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Portal hypertension, Abdominal pain, Leukocytosis, Osteoporosis, Hepatospl... ORPHA:98850
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hepatocellular carcinom... OMIM:277900
Bathing Suit Ichthyosis
Alopecia, Multiple joint contractures, Epidermal acanthosis, Palmoplantar scaling skin, Scaling s... ORPHA:100976
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
3-Methylglutaconic Aciduria Type 4
Spasticity, Failure to thrive, Decreased liver function, Thrombocytopenia ORPHA:67048
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Osteomalacia, Poor appetite, Elevated circulating aspartate aminotran... OMIM:227810
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:251880
Intellectual Developmental Disorder, Autosomal Recessive 5
Short stature, Elevated circulating creatine kinase concentration, Small for gestational age, Pos... OMIM:611091
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi... OMIM:601847
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Mitochondrial Dna Depletion Syndrome 17
Spastic tetraparesis, Chorea, Low plasma citrulline, Hyperammonemia, Hemiballismus, Hepatic failure OMIM:618567
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... ORPHA:254881
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Short stature, Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contractur... OMIM:606242
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Joint stiffness, Absent eyelashes, Sparse eyebrow, Growt... ORPHA:2985
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Small for ges... OMIM:224120
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Cirrho... ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia... ORPHA:822
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... OMIM:619484
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Scaling skin, Nail dystrophy, Sparse hair, Alopecia of scalp, D... OMIM:604536
Ichthyosis With Confetti
Short stature, Hypoplastic nipples, Scaling skin, Decreased body weight, Hypertrichosis OMIM:609165
Bachmann-Bupp Syndrome
Lower limb spasticity, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Large for gestational... OMIM:619075
Hemophagocytic Lymphohistiocytosis, Familial, 1
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... OMIM:267700
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Clonus, Hypertonia, Hypocalcemia, Hepatomegaly, Increased bone mine... OMIM:259720
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Spastic tetraplegia, Growth delay, Scaling skin, Joint contracture, Dry skin, Limb hype... OMIM:614457
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Small for gestational age, Decreased serum iron, Woolly hair, Diarrhe... OMIM:614602
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Mele... ORPHA:98870
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Poor fine motor coordination, Decreased liver function, Frequent falls, Intention tr... ORPHA:512260
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, ... ORPHA:1667
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Cholelithiasis, Reduced red ce... OMIM:266200
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Mpdu1-Cdg
Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce... ORPHA:79323
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Increased circulating lactate dehydrogenase con... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... ORPHA:30391
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Elevated circulating alkaline phosphatase concentration, Polycystic liver d... OMIM:174050
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Peeling Skin Syndrome 5
Epidermal acanthosis, Scaling skin OMIM:617115
Congenital Disorder Of Glycosylation, Type If
Ataxia, Flexion contracture, Dry skin, Feeding difficulties, Hypertonia, Scaling skin, Failure to... OMIM:609180
Menkes Disease
Joint laxity, Alopecia, Decreased circulating ceruloplasmin concentration, Short stature, Brittle... OMIM:309400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... OMIM:617156
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas... OMIM:616860
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase c... ORPHA:2088
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... OMIM:617049
Peeling Skin Syndrome 1
Brittle hair, Short stature, Eosinophilia, Onycholysis, Scaling skin, Nail dystrophy OMIM:270300
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Oliver-Mcfarlane Syndrome
Alopecia, Severe short stature, Small for gestational age, Long eyebrows, Long eyelashes, Delayed... OMIM:275400
Cutaneous Mastocytoma
Abdominal pain, Diarrhea, Erythema, Vomiting, Scaling skin, Elevated total serum tryptase, Nausea ORPHA:79455
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... ORPHA:882
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Abnormal circulating porphyrin concentration, Erythema, Decreased liver functi... ORPHA:79278
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Intermittent diarrhea, Feeding difficulties, Limb dystonia, Intrauterine... OMIM:620270
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... OMIM:232800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Clonus, Protein avoidance, Poor coor... ORPHA:415
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo... ORPHA:567983
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ... OMIM:603553
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... OMIM:615924
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short... OMIM:611881
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Hepatosple... ORPHA:367
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Epidermal acanthosis, Sparse eyelashes, Thick hair, Portal hypertension, ... OMIM:607626
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Decreas... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Decreas... OMIM:618839
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Elevated circula... OMIM:608779
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ... ORPHA:53035
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Abdominal pain, Tremor, Jaundice, Eleva... ORPHA:69665
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Gait ataxia, Hepatosplenomegaly, Progressive cerebellar ataxia, Hepatic fi... ORPHA:466794
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Cystic Echinococcosis
Abdominal symptom, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Jaundice, Bone cyst... ORPHA:400
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin OMIM:146590
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Osteoporosis, Nail dystrophy, Sparse ... OMIM:618625
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... OMIM:619685
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Scaling skin OMIM:617571
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist... ORPHA:75233
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Hypoalbuminemia, Hep... ORPHA:14
Hawkinsinuria
Sparse hair, Abnormal circulating tyrosine concentration, Failure to thrive, Fine hair ORPHA:2118
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Wilson Disease
Acute hepatic failure, Hepatomegaly, Acute hepatitis, Elevated hepatic transaminase, Splenomegaly... ORPHA:905
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Erythema, Cholelithiasis, Hepatic failure OMIM:177000
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Postnatal growth retardation, Abnormal erythro... ORPHA:288
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Synophrys, Micronodular cirr... OMIM:606003
Peroxisome Biogenesis Disorder 7B
Decreased liver function OMIM:614873
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function OMIM:618952
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, T... ORPHA:90051
Hyperbiliverdinemia
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis OMIM:614156
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Vomiting, Gastroesophage... OMIM:613658
Recon Progeroid Syndrome
Joint laxity, Short stature, Thrombocytopenia, Hyperconvex thumb nails, Hirsutism, Absent lower e... OMIM:620370
Alg3-Cdg
Osteopenia, Abnormal circulating enzyme concentration or activity, Spastic tetraparesis, Feeding ... ORPHA:79321
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sp... ORPHA:435934
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Xq27.3Q28 Duplication Syndrome
Short stature, Truncal obesity, Intrauterine growth retardation, Failure to thrive, Sparse body hair ORPHA:261483
Syndromic X-Linked Intellectual Disability 7
Short stature, Obesity, Sparse body hair ORPHA:85274
Bacterial Toxic-Shock Syndrome
Osteomyelitis, Elevated circulating creatine kinase concentration, Nausea, Abdominal pain, Diarrh... ORPHA:36234
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Alg1-Cdg
Chronic diarrhea, Limitation of joint mobility, Hypoalbuminemia, Decreased liver function ORPHA:79327
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Short... OMIM:242150
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Short stature, Tremor, Feeding difficulties, Growth delay, Decreased serum cre... OMIM:617744
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... ORPHA:275761
Idiopathic Localized Lipodystrophy
Erythema, Scaling skin ORPHA:90158
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Progeroid Syndrome, Petty Type
Failure to thrive, Brittle hair, Short stature, Redundant skin, Abnormal hair morphology, Cutis l... ORPHA:2963
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Osteomyelitis ... OMIM:256810
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... ORPHA:521406
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Jaundice, Fulminant hepatitis, Hepati... OMIM:618549
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Dry skin, Feeding difficulties, Constipation, Prolonged neonatal j... ORPHA:95715
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Pontocerebellar Hypoplasia, Type 13
Low posterior hairline, Gait ataxia, Feeding difficulties, Constipation, Long eyelashes, Decrease... OMIM:618606
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations... ORPHA:276435
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis OMIM:101900
Peroxisome Biogenesis Disorder 6B
Ataxia, Elevated circulating phytanic acid concentration, Limb ataxia, Gait ataxia, Decreased liv... OMIM:614871
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decr... ORPHA:169154
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Anorexia, Reticulocytopenia, Vomiting, Pallor, Neutropenia, Hypoplastic ane... OMIM:557000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Obesity, Cholestasis, Hyperbilirubinemia, Red hair OMIM:609734
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossification, Constipation, ... ORPHA:95717
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:91547
Ddost-Cdg
Osteopenia, Elevated hepatic transaminase, Short stature, Tremor, Oromotor apraxia, Dry skin, Gas... ORPHA:300536
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Joint laxity, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Feedi... ORPHA:541423
Saccharopinuria
Short stature, Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormalit... ORPHA:3124
Verrucous Hemangioma
Epidermal acanthosis ORPHA:464318
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis, Feeding difficulties, Hypertonia, Intrauter... OMIM:609060
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Dry skin, Facia... ORPHA:1010
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology, Abnormal fingernail morphology ORPHA:79147
Leigh Syndrome
Multiple joint contractures, Chorea, Gastrointestinal dysmotility, Choreoathetosis, Neutropenia, ... ORPHA:506
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar scaling skin,... OMIM:605676
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia OMIM:261630
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... ORPHA:3202
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Feeding d... OMIM:261640
Kid Syndrome
Epidermal acanthosis, Sparse eyelashes, Postnatal growth retardation, Scarring alopecia of scalp,... ORPHA:477
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Diarrhea, Hepatic failure, Vomiting, Hypoalbuminemia, Hepatic fibrosis, Steatorrhea... OMIM:602579
Babesiosis
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Limitation... ORPHA:108
Trichohepatoenteric Syndrome 1
Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, In... OMIM:222470
Lupus Erythematosus Tumidus
Scaling skin ORPHA:90283
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Cutis Laxa, Autosomal Recessive, Type Iiia
Short stature, Joint hypermobility, Low plasma citrulline, Hyperammonemia, Cutis laxa, Athetosis,... OMIM:219150
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Decreased liver f... OMIM:251290
Moynahan Syndrome
Sparse hair, Alopecia, Short stature, Cachexia ORPHA:2574
Riddle Syndrome
Short stature, Ataxia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Diar... ORPHA:420741
Filippi Syndrome
Postnatal growth retardation, Dystonia, Sparse hair, Intrauterine growth retardation, Frontal hir... OMIM:272440
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne... OMIM:300908
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Feeding difficulties, Hypoalbuminemia, Macrovesicular hepatic stea... OMIM:618329
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... OMIM:619355
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Trichothiodystrophy 8, Nonphotosensitive
Head titubation, Sparse eyebrow, Trichorrhexis nodosa, Babinski sign, Spastic diplegia, Cutis lax... OMIM:619691
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointes... OMIM:276700
Heyn-Sproul-Jackson Syndrome
Sparse hair, Intrauterine growth retardation, Severe short stature, Decreased body weight OMIM:618724
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Joint laxity, Hepatomegaly, Elevated hepatic transaminase, At... OMIM:615673
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Short stature, Small for gestational age, Sparse facial hair, Sparse axillary hair, I... OMIM:608154
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Tremor, Abnormal pyramidal sign, Premature graying of hair, Intestinal bleeding, Spar... OMIM:612199
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... ORPHA:713
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Increased circu... OMIM:619644
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Vomiting, Hepatomegaly, Abnormal... ORPHA:470
Autoimmune Hepatitis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Maternal Uniparental Disomy Of Chromosome X
Short stature, Camptodactyly of finger, Flexion contracture, Low posterior hairline, Hepatic failure ORPHA:261519
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Focal dystonia, Clums... ORPHA:216873
Primary Biliary Cholangitis
Portal hypertension, Conjugated hyperbilirubinemia, Abdominal distention, Jaundice, Hepatic failu... ORPHA:186
Trichothiodystrophy 9, Nonphotosensitive
Joint laxity, Ataxia, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Failure to thrive, Decreased liver function OMIM:614883
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin OMIM:113800
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossificat... ORPHA:90674
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Camptodactyly of finger, Fingernail dysplasia, Sparse hair, Onych... ORPHA:2251
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Bazex Syndrome
Yellow nails, Nail dystrophy, Scaling skin, Anemia ORPHA:166113
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:26791
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Short statu... ORPHA:333
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Dysp... OMIM:607426
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hemiplegia/hemiparesis, Transient hyperlipidemia, He... ORPHA:156
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Short stature, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Oculomotor apr... OMIM:615630
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Erythema, Scaling skin, Abnormality of the nail OMIM:607602
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Short stature, Small for gestational age, Highly arched eyebrow, Sparse eyebrow... OMIM:618419
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Joint stiffness, Abdominal pain, Increased... ORPHA:465508
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:608836
Autosomal Dominant Spastic Paraplegia Type 29
Babinski sign, Clonus, Hyperbilirubinemia ORPHA:101009
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to... OMIM:615438
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Curly hair, Hepatomegaly, Cholelithiasis, Elevated circulating alkaline phosphatase... OMIM:618268
Spastic Paraplegia 29, Autosomal Dominant
Lower limb spasticity, Clonus, Babinski sign, Spastic paraplegia, Upper limb spasticity, Vomiting... OMIM:609727
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Familial Thyroid Dyshormonogenesis
Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossification, Constipation, ... ORPHA:95716
Lysinuric Protein Intolerance
Leukopenia, Vomiting, Sparse hair, Nausea, Hepatomegaly, Short stature, Osteoporosis, Anemia, Rec... OMIM:222700
Centrifugal Lipodystrophy
Alopecia, Erythema, Scaling skin ORPHA:90156
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Feeding difficulties in infancy, Elevated gamma-glutamyltransferas... OMIM:614866
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:614887
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Short stature, Ataxia, Autoimm... ORPHA:77293
Rh Deficiency Syndrome
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:71275
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:605479
Peeling Skin Syndrome 4
Nail dystrophy, Epidermal acanthosis, Scaling skin OMIM:607936
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Acantholysis, Leukocytosis, Cholestasi... ORPHA:293173
Developmental And Epileptic Encephalopathy 75
Feeding difficulties in infancy, Babinski sign, Decreased liver function, Prolonged neonatal jaun... OMIM:618437
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Short stature, Perianal erythema, Ataxia, Poor appetite, Tremor,... OMIM:201100
Woodhouse-Sakati Syndrome
Osteopenia, Alopecia, Dystonia, Hyperlipidemia, Growth delay, Choreoathetosis, Scaling skin, Dela... ORPHA:3464
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... ORPHA:99901
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Macular purpura, Hep... ORPHA:49566
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Hepatom... ORPHA:3008
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin OMIM:129490
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Proteus Syndrome
Epidermal acanthosis, Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyper... OMIM:176920
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia,... OMIM:618093
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Growth delay, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomo... OMIM:612716
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Tremor, Growth delay, Spasticity OMIM:278780
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia ORPHA:664
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Dry skin, Scaling skin, Nail dystrophy, Alopecia of scalp OMIM:618373
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t... OMIM:614700
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Short stature, Ataxia, Conjugated hyperbilirubinemia, Splenomegal... OMIM:608885
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Short stature, Redundant skin, Thick hair, Postnatal growth retardation, Gen... ORPHA:357074
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Acantholysis, Leukonychia, Onycholysis, Scaling skin, Dry skin OMIM:616295
Dubin-Johnson Syndrome
Hepatomegaly, Abdominal pain, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality,... ORPHA:234
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Short stature, Kinetic tremor, Truncal ataxia, Gait ataxia, Growth del... OMIM:616817
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Ele... OMIM:615486
Immunodeficiency 58
Helicobacter pylori infection, Psoriasiform lesion, Short stature, Chronic diarrhea, Colitis, Sca... OMIM:618131
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Shigellosis
Anorexia, Abnormal blood ion concentration, Bloody diarrhea, Paralytic ileus, Vomiting, Nausea, A... ORPHA:810
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spa... OMIM:617284
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... ORPHA:363400
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hyperammonemia, Dysphagia, Feeding difficulties, Neutropenia, Sparse h... OMIM:618253
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stipp... ORPHA:177
Glycogen Storage Disease Iv
Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Arthrogryposis multiplex con... OMIM:232500
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... OMIM:612126
Alveolar Echinococcosis
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Abdominal pain, Hepatic cy... ORPHA:284
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... OMIM:613102
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Skin vesicle, Hep... ORPHA:1775
Psoriasis 2
Epidermal acanthosis, Scaling skin OMIM:602723
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Mirizzi Syndrome
Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J... ORPHA:521219
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Feeding difficulties, Hypertonia, Hypoalbuminemia, Prolonged ne... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Feeding difficulties, Hypertonia, Hypoalbuminemia, Prolonged ne... ORPHA:529799
Singleton-Merten Syndrome 2
Osteopenia, Osteolytic defects of the phalanges of the hand, Psoriasiform lesion, Short stature OMIM:616298
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Dys... OMIM:159950
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the... OMIM:614307
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Acute Radiation Syndrome
Diarrhea, Skin ulcer, Vomiting, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Nail dystrophy, Onychogryposis ORPHA:79395
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus OMIM:614018
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Feeding difficulties, Stillbirth, Tongue fasciculations, Myoclonus, Decreased liver... OMIM:614922
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Thrombocytopenia, Splenomegaly, Dysphagia, Hepatosplenomegaly, Anemia, Opisthotonus... OMIM:608013
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Focal ... ORPHA:240103
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Epidermal acanthosis, Neutrophilia, Elevated circulating... OMIM:612852
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, ... ORPHA:2872
Jaberi-Elahi Syndrome
Appendicular spasticity, Brittle hair, Sparse eyelashes, Joint stiffness, Tremor, Sparse eyebrow,... OMIM:617988
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Fumarase Deficiency
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Pallo... OMIM:606812
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai... OMIM:617916
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Leukopenia, Vomiting, Hypocalcemia, Lymphocytosis, Elevated hepati... OMIM:619991
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Classic Phenylketonuria
Nausea and vomiting, Hypopigmentation of hair, Tremor, Lack of skin elasticity, Paraplegia, Growt... ORPHA:79254
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Vomiting, Decreased liver fu... ORPHA:436271
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Dyspha... OMIM:606159
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... OMIM:608799
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... OMIM:607330
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Poor appetite, Diarrhea, Elevated circulating creatinine concentra... ORPHA:542323
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Ataxia, Cholangitis, Decreased mit... OMIM:124000
Glycosylphosphatidylinositol Biosynthesis Defect 25
Short stature, Ankle flexion contracture, Low alkaline phosphatase, Coarse hair, Sparse hair OMIM:619985
Hypermanganesemia With Dystonia 2
Hypermanganesemia, Limb joint contracture, Elevated circulating creatine kinase concentration, Pa... OMIM:617013
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Ataxia, Fine hair ORPHA:1174
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Hepatic failure, Short stature, Portal hypertension OMIM:210050
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Redundant neck skin, Postnatal growth retardation, Splenomegaly, Abdominal distenti... ORPHA:1655
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Hypopigmentation of hair, Short stature, Ataxia, Trem... ORPHA:100
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Short stature, Flexion contracture, Growth delay, Sparse body hair, ... ORPHA:2850
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Anorexia, Hypoplastic toenails,... ORPHA:2930
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Hepatomegaly, Intestinal obstruction,... ORPHA:131
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Increased total bilirubin ORPHA:90037
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Epidermal acanthosis, Scaling skin OMIM:612281
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Feeding difficulties in infancy, Increased T cell count, Chronic diarrhea, Growth del... ORPHA:98813
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Small for gestational age, Proportionate short stature, Synophrys, Low anterior hai... ORPHA:391408
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibro... ORPHA:171
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia... OMIM:208920
Ichthyosis, Annular Epidermolytic, 2
Erythema, Scaling skin OMIM:620148
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Secretory diarrhea, Vomiting, Long eyelashes, Failure to thrive OMIM:616069
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti OMIM:607903
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Elevated circul... OMIM:620366
Cranioectodermal Dysplasia
Rhizomelia, Abnormal fingernail morphology, Craniosynostosis, Osteoporosis, Joint hyperflexibilit... ORPHA:1515
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Short stature, Ataxia, Postural tremor, Splenomegaly, Micro... OMIM:301072
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Short stature, Ataxia, Abdominal pain... OMIM:212750
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia, Growth delay, Vomiting, Fai... OMIM:615453
Peeling Skin Syndrome 6
Dry skin, Scaling skin OMIM:618084
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... ORPHA:79124
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Growth delay, Nail dystrophy, Anonychia, Sparse body hair, Anemia ORPHA:79402
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperammonemia, Choles... ORPHA:292
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Vomiting OMIM:616483
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Secretory diarrhea, Elevated gamma-glutamy... OMIM:619573
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,... OMIM:261680
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Ex... ORPHA:3051
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Short stature, Ataxia, Conjugated hyperbilirubinemia, Postnatal gro... ORPHA:168577
Giant Cell Arteritis
Alopecia, Ataxia, Anorexia, Joint stiffness, Abdominal pain, Skin ulcer, Weight loss, Arthritis, ... ORPHA:397
Degcags Syndrome
Osteopenia, Oral-pharyngeal dysphagia, Synophrys, Vocal cord paralysis, Low anterior hairline, Pr... OMIM:619488
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Dystonia, Hepatomegaly, Anisocytosis, Micro... OMIM:618278
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Synophrys, Hypertonia, Vomiting, Hepatic steatosis, Intention tremor, Joint laxity, Ataxi... OMIM:619475
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy ORPHA:254857
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... ORPHA:59303
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Short stature, Obesity, Low posterior hairline ORPHA:2183
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy... ORPHA:159
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Synophrys, Flexion contracture, Facial erythema, Knee fl... OMIM:619503
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bra... ORPHA:70594
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Redundant neck skin, Splenomegaly, Abdominal distention, Hypocalcemia, Hepatic fail... OMIM:235255
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Paralysis, Microvesic... OMIM:203700
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... ORPHA:48818
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... OMIM:619405
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Cerebral palsy, Flexion contracture, Dysphagia, Sparse hair, Failure to ... OMIM:620001
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Feeding difficulties, Sparse hair, Intrauterine growth retardation, Failure to thrive, Aplasia/Hy... ORPHA:261304
Cranioectodermal Dysplasia 2
Joint laxity, Hepatomegaly, Elevated hepatic transaminase, Rhizomelia, Short stature, Craniosynos... OMIM:613610
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Severe short stature, Rigidity, Abnormal eyelash morphology, Abnormal hair morpholo... ORPHA:2526
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Cutis laxa, Fine hair, ... OMIM:614438
Immunodeficiency 56
Cholangitis, Hepatic failure, Chronic diarrhea, Cirrhosis, Chronic hepatitis due to cryptosporidi... OMIM:615207
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Nail dystro... ORPHA:2890
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... ORPHA:398124
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abdominal pain, Jaundic... OMIM:229600
Atrophoderma Vermiculata
Abnormal epidermal morphology, Erythema ORPHA:79100
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Increased total bilirubin ORPHA:90036
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperphenylalaninemia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dyst... OMIM:233910
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Dry skin, Fine hair, Growth delay, Sparse or absent eyelashes, Fe... ORPHA:217346
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Decreased liver function, Truncal ataxia, Increased hepatocellular lipid dr... OMIM:220110
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Zellweger Syndrome
Hepatomegaly, Short stature, Feeding difficulties in infancy, Jaundice, Epiphyseal stippling, Hep... ORPHA:912
Rat-Bite Fever
Diarrhea, Oligoarthritis, Weight loss, Arthritis, Vomiting, Scaling skin, Septic arthritis, Anemia ORPHA:31205
Ruijs-Aalfs Syndrome
Short stature, Hepatocellular carcinoma, Elbow flexion contracture, Osteoporosis, Premature grayi... OMIM:616200
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Small for gestational age, Short stature, Trichoschisis, Fl... OMIM:601675
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Epidermal acanthosis, Interphalangeal joint contracture of finger... ORPHA:2199
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Chronic diarrhea, Gait ataxia, Re... OMIM:300953
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Ataxia, Abnormality of Krebs cycle metabolism, Chorea, Low plasma citrulline, Hepat... ORPHA:255210
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Epidermal acanthosis, Elevated circ... OMIM:617388
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Hematemesis, Osteolysis involving bones of the uppe... ORPHA:464321
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Chronic diarrhea, Scaling skin, Nail dystrophy, Sparse hair, Failure to thrive, Al... ORPHA:158668
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Dry skin, Sparse body hair OMIM:618535
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Failure to thrive, Elevated circulating C-reactive protein concent... OMIM:615934
Aredyld
Generalized hypotrichosis OMIM:207780
Psoriasis 14, Pustular
Neutrophilia, Epidermal acanthosis, Cholangitis, Elevated circulating C-reactive protein concentr... OMIM:614204
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Pemphigus Foliaceus
Skin vesicle, Erythema, Scaling skin, Acantholysis ORPHA:79481
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow, Elevated 8-dehydrocho... OMIM:302960
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Vomiting, Decreased liver function OMIM:602199
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Flexion contracture, Knee flexion contracture, Gastroesophageal ... OMIM:210710
Hyperlysinemia
Tremor, Dysmetria, Opisthotonus, Vomiting, Gastroesophageal reflux, Short stature, Clumsiness, Hy... ORPHA:2203
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth ret... ORPHA:2457
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Poor appetite, Anorexia, Bowel ... ORPHA:100075
Anauxetic Dysplasia 2
Short stature, Flexion contracture, Small nail, Nail dysplasia, Sparse hair, Intrauterine growth ... OMIM:617396
Mitchell-Riley Syndrome
Absent gallbladder, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, I... OMIM:615710
2Q32Q33 Microdeletion Syndrome
Short stature, Fine hair, Growth delay, Joint hyperflexibility, Feeding difficulties, Sparse hair ORPHA:251019
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Short stature, Advanced ossification of carpal bones, Cutis laxa, Incre... OMIM:615349
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Nasogastric tube feeding in infancy, Reduced bone mineral density, V... ORPHA:2909
Mal De Meleda
Flexion contracture, Erythema, Epidermal acanthosis ORPHA:87503
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Bone-marrow foam cells, Low cholesterol est... OMIM:257220
Basan Syndrome
Epidermal acanthosis, Nail dystrophy, Flexion contracture of digit OMIM:129200
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia, Sparse bod... ORPHA:1660
Joubert Syndrome 37
Hepatomegaly, Short stature, Obesity, Sparse hair, Oculomotor apraxia, Joint hypermobility OMIM:619185
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Splenomegal... OMIM:613471
Desbuquois Syndrome
Severe short stature, Camptodactyly of finger, Abnormal eyelash morphology, Joint hyperflexibilit... ORPHA:1425
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, White scaling skin, Acanthocytosis OMIM:604777
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Obesi... OMIM:300055
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Elevated circulating alkaline phosphata... ORPHA:529665
Intellectual Developmental Disorder, X-Linked 12
Joint laxity, Increased body mass index, Short stature, Small for gestational age, Tremor, Feedin... OMIM:300957
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Elevated circulating creatine kinase concentration, Dysphagia, Fasciculations OMIM:313200
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Facial erythema, Vomiting, Neutropenia, Sparse hair, Calcinosis, Sho... ORPHA:221016
Hereditary Fructose Intolerance
Hepatomegaly, Reduced circulating aldolase concentration, Abdominal pain, Abdominal distention, J... ORPHA:469
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556030
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Fanconi Anemia, Complementation Group S
Ataxia, Short stature, Low anterior hairline, Long eyelashes, Sparse hair, Failure to thrive, Anemia OMIM:617883
Cholestasis, Progressive Familial Intrahepatic, 4
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure OMIM:615878
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Feeding difficulties in infancy, Babinski sign, Cholestasis, Hypoca... ORPHA:746
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Dystonia, Small for gestational age, Short stature, Failure to thrive in infancy, Brittle hair, F... OMIM:618891
Chromosome 19Q13.11 Deletion Syndrome, Distal
Failure to thrive, Short stature, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow,... OMIM:613026
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... ORPHA:397946
Ogden Syndrome
Redundant neck skin, Redundant skin, Microvesicular hepatic steatosis, Iron deficiency anemia, Hy... OMIM:300855
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Sparse hair... ORPHA:1807
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Epidermal acanthosis OMIM:617526
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Dysmetria, Sparse hair, Dystonia, Oculomotor apraxia, Spasticity, Hirsutism, Limb hypertonia OMIM:618087
Aredyld Syndrome
Craniofacial hyperostosis, Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine grow... ORPHA:1133
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... OMIM:104100
Fg Syndrome 3
Fine hair, Feeding difficulties, Chronic constipation, Frontal upsweep of hair, Sparse hair, Join... OMIM:300406
Serotonin Syndrome
Clonus, Tremor, Rigidity, Diarrhea, Hypertonia, Myoclonus, Hepatic failure, Nausea ORPHA:43116
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556037
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Facial erythema, Vomiting, Neutropenia, Sparse hair, Calcinosis, Sho... ORPHA:221008
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Epidermal acanthosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:242300
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Distal Xq28 Microduplication Syndrome
Short stature, Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eyebrow ORPHA:293939
Restrictive Dermopathy 1
Limb joint contracture, Sparse eyelashes, Short nail, Absent eyelashes, Ankylosis, Sparse eyebrow... OMIM:275210
Macs Syndrome
Joint laxity, Alopecia, Short stature, Redundant skin, Sparse eyebrow, Osteoporosis, Cutis laxa, ... OMIM:613075
Lissencephaly Due To Lis1 Mutation
Tetraplegia, Feeding difficulties, Opisthotonus, Progressive spastic quadriplegia, Neonatal hyper... ORPHA:95232
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma... ORPHA:646
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Camptodactyly of finger, Short nail, Sparse eyebrow, Apl... ORPHA:1662
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Delayed proximal femo... ORPHA:90673
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Facial hypertrichosis, Anisocytosis, Abnormal circ... ORPHA:79277
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Acantholysis, Growth delay, Hypoalbuminemia, Hypernat... OMIM:615508
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Bloody diarrhea, Horizontal eyebrow, Scaling skin, Recurrent gastroenteritis, Slow-grow... ORPHA:294023
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Abdominal obesity, Intrauterine growth retardation, Spa... OMIM:300869
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Gastroesophageal re... OMIM:619534
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Highly arched eyebrow, Portal hypertension, ... ORPHA:1454
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Short stature, Hyperconvex nail, Chronic constipation, Gastroesophageal reflux, Spa... OMIM:619721
Myopathy, Mitochondrial, And Ataxia
Short stature, Elevated circulating creatine kinase concentration, Ataxia, Thick hair, Tremor, Dy... OMIM:617675
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Camptodactyly of finger, Growth delay, Sparse hair, Intrauterine growt... OMIM:610756
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Dysphagia, Growth delay, Hypertonia, Hyperkinetic movements... OMIM:619738
Bronchial Neuroendocrine Tumor
Hepatomegaly, Poor appetite, Anorexia, Bowel urgency, Weight loss, Protracted diarrhea, Increased... ORPHA:97287
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia OMIM:619790
Tarp Syndrome
Athetosis, Hepatic failure, Neonatal death, Intrauterine growth retardation, Failure to thrive OMIM:311900
Tetrasomy 12P
Short stature, Cachexia, Sparse eyebrow, Joint hyperflexibility, Sparse hair ORPHA:884
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Cranioectodermal Dysplasia 1
Joint laxity, Hepatomegaly, Rhizomelia, Thin nail, Sagittal craniosynostosis, Short nail, Slow-gr... OMIM:218330
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Ataxia, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Failure to thrive OMIM:616353
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Hyperlipidemia, Flexion contracture, Growth delay, Progressive clavicular... OMIM:608612
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Myoclo... ORPHA:46059
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Dry skin, Short stature, Elevated hepatic transaminase OMIM:268020
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Feeding difficulties, Sparse hair, Dystonia OMIM:614105
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Small for gestational age, Short stature, Ataxia, Thin nail, Poor appetite... OMIM:617799
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas... OMIM:612953
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Ivory epiphyses of the distal phalanges of the hand, Short stature, Thin nail, Slow-g... OMIM:190350
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Nail pits, Hepati... OMIM:127550
Pelizaeus-Merzbacher Disease
Generalized dystonia, Short stature, Writer's cramp, Ataxia, Tremor, Head titubation, Spastic par... OMIM:312080
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... ORPHA:84081
Gand Syndrome
Sparse hair OMIM:615074
Cartilage-Hair Hypoplasia
Joint laxity, Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagg... OMIM:250250
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Cutis laxa ORPHA:79148
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th f... ORPHA:1883
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Thrombocytopenia, Reduced b... OMIM:617052
Xp22.13P22.2 Duplication Syndrome
Short stature, Truncal obesity, Slowed slurred speech, Sparse hair, High anterior hairline ORPHA:284180
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Vomi... ORPHA:466650
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Ankylosis, Erythema, Osteolysis, Skin ulcer, Sparse hair ORPHA:659
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Feeding difficulties in infancy, Splenomegaly, Babinski sign, Growth delay,... OMIM:252010
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Short stature, Long eyebrows, Low posterior hairlin... OMIM:613224
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic... ORPHA:974
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Epidermal acanthosis, Thin nail, Paralysis, Abnormal hair morphology, Erythema, Growth ... OMIM:242100
Parkes Weber Syndrome
Scaling skin, Paraplegia, Abnormal B-type natriuretic peptide concentration, Skin ulcer ORPHA:90307
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression OMIM:247100
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Borjeson-Forssman-Lehmann Syndrome
Short stature, Feeding difficulties in infancy, Joint hyperflexibility, Truncal obesity, Sparse h... ORPHA:127
De Barsy Syndrome
Osteopenia, Short stature, Postnatal growth retardation, Generalized joint laxity, Cutis laxa, Ex... ORPHA:2962
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Joint stiffness ORPHA:209335
Alopecia Antibody Deficiency
Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ... ORPHA:1006
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Constipation OMIM:273390
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Ataxia-Telangiectasia
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor, Short sta... OMIM:208900
Pituitary Hormone Deficiency, Combined, 6
Short stature, Hyperbilirubinemia, Feeding difficulties OMIM:613986
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Feeding diffi... ORPHA:99657
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Erythema, Hepatitis, Weight l... ORPHA:139402
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Thick eyebrow, Short stature, Postnatal growth retardation, Hypertonia, Long eyelashe... OMIM:212066
Non-Functioning Paraganglioma
Hypercalcemia, Tremor, Vocal cord paralysis, Weight loss, Episodic abdominal pain, Pallor, Nausea ORPHA:94080
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Generalized hirsutism, Low posterior hairl... ORPHA:163956
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... OMIM:234050
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,... OMIM:218700
Tetanus
Stiff neck, Elevated circulating creatine kinase concentration, Bowel incontinence, Abdominal pai... ORPHA:3299
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Acute colitis, Abdominal pain, Leukocytosis, Schistocytosis, Eleva... ORPHA:90038
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Ataxia, Oral-pharyngeal dysphagia, Postnatal growth retardation, Tremor, Synophrys, H... OMIM:300966
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Short Syndrome
Alopecia, Severe short stature, Poor appetite, Weight loss, Excessive wrinkled skin, Joint hyperf... ORPHA:3163
Cardiofaciocutaneous Syndrome 4
Joint laxity, Absent eyebrow, Curly hair, Short stature, Sparse eyelashes, Sparse hair, Alopecia ... OMIM:615280
Stevens-Johnson Syndrome
Acute hepatic failure, Nausea and vomiting, Elevated hepatic transaminase, Gastrointestinal hemor... ORPHA:36426
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Elevated hepatic transaminase, Gastrointestinal hemor... ORPHA:537
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Short stature, Ataxia, Dysmetria, Truncal obesity, Dysd... OMIM:616541
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Thick eyebrow, Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Hirsutism OMIM:616819
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Perianal erythema, Short stature, Sparse scal... OMIM:308205
Braddock-Carey Syndrome 1
Curly hair, Spastic diplegia, Growth delay, Camptodactyly, Sparse hair, Thrombocytopenia OMIM:619980
Incontinentia Pigmenti
Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema,... OMIM:308300
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Tremor, Feedi... OMIM:212065
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Joint hypermobility OMIM:301845
Lamellar Ichthyosis
Short stature, Lack of skin elasticity, Sparse hair, Dry skin, Abnormality of the nail, Aplasia/H... ORPHA:313
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Epidermal acanthosis, Thin nail, Short nail, Sparse eye... OMIM:257980
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Hepatic failure ORPHA:3196
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Absent gallbladder, Short stature, Thrombocytopenia, Hyp... ORPHA:163979
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Short stature, Elevated ci... OMIM:615356
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Absent eyebrow, Curly hair, Short stature, S... OMIM:115150
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Short stature, Sparse eyelashes, Supernumerary nipple, Slow-gro... OMIM:129400
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts OMIM:600666
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Short stature, Sparse eyebrow OMIM:619989
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia OMIM:611126
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Gastroparesis, Parkinsonism, Bowel incontinence, Tremor, Rigidity, Head titubation, Gai... OMIM:618877
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Sparse hair, Failure to thrive ORPHA:2316
Focal Facial Dermal Dysplasia Type Iv
Hemiparesis, Abnormal mast cell morphology, Abnormal epidermal morphology ORPHA:398189
Olmsted Syndrome 2
Epidermal acanthosis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Bainbridge-Ropers Syndrome
Thick eyebrow, Highly arched eyebrow, Supernumerary nipple, Synophrys, Feeding difficulties, Grow... OMIM:615485
Even-Plus Syndrome
Sparse hair, Synophrys, Severe short stature, Highly arched eyebrow OMIM:616854
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... ORPHA:845
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short stature, Sparse hair, Sparse lateral eyebrow OMIM:190351
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Hepatic failure, Dysphagia ORPHA:2724
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, E... ORPHA:100078
Cranioectodermal Dysplasia 3
Joint laxity, Rhizomelia, Short stature, Sagittal craniosynostosis, Short nail, Broad nail, Cutis... OMIM:614099
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Menkes Disease
Nausea and vomiting, Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Recurr... ORPHA:565
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Congenital Short Bowel Syndrome
Sparse hair, Short stature ORPHA:2301
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Periorbital... OMIM:614941
Chromosome 5P13 Duplication Syndrome
Sparse hair, Small for gestational age, Craniosynostosis, Low posterior hairline OMIM:613174
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... ORPHA:99829
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short stature, Obesity, Sparse body hair ORPHA:2234
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Ecchymosis, Myeloid leukemia, Hepatic failure, Joint hemorrhage ORPHA:331
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Synophrys, Low posterior hairline, Clumsiness, Thin eyebrow, Sparse hair OMIM:619320
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Epidermal acanthosis, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity, D... OMIM:618527
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Cockayne Syndrome B
Hepatomegaly, Failure to thrive, Severe short stature, Small for gestational age, Ataxia, Dry hai... OMIM:133540
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Cardiofaciocutaneous Syndrome
Brittle hair, Short stature, Redundant skin, Failure to thrive in infancy, Slow-growing hair, Abn... ORPHA:1340
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase... OMIM:243800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Short stature, Conjugated hyperbilirubinemia, Jaundice, Early ossificat... OMIM:208500
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Feeding difficultie... OMIM:251100
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Brittle hair, Increased iduronate sulfatase level, Increased serum beta... OMIM:252500
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic necrosis, Growth delay, Decre... OMIM:231530
3-Methylglutaconic Aciduria, Type Viib
Dystonia, Rhizomelia, Ataxia, Tremor, Flexion contracture, Opisthotonus, Growth delay, Leukopenia... OMIM:616271
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Growth delay, Hepatic failure, Feeding difficulties OMIM:619758
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Joint stiffness, Moderate postnatal growth retardation, Sparse ha... ORPHA:1005
Crimean-Congo Hemorrhagic Fever
Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Cholecystit... ORPHA:99827
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis, Arthritis, Dysphagia, Mildly elevated creatine kinase ORPHA:397744
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Sparse medial eyebrow, Low anterior h... OMIM:601358
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Short stature, Slow-growing hair, Craniosynostosis, Highly arched eyebrow, Feeding di... OMIM:617506
Acrofacial Dysostosis, Palagonia Type
Short stature, Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sp... ORPHA:1787
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
12Q14 Microdeletion Syndrome
Short stature, Tremor, Abnormality of the spleen, Osteopoikilosis, Synophrys, Intrauterine growth... ORPHA:94063
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Tremor, Babinski ... OMIM:128100
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Lower limb spasticity, Postnatal growth retardation, Feeding difficulties in infancy,... ORPHA:251028
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Ataxia, Gastroparesis, Tremor, Hyperammonemia, Growth delay, Intention... OMIM:614052
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Hallermann-Streiff Syndrome
Sparse scalp hair, Small for gestational age, Sparse eyelashes, Proportionate short stature, Spar... OMIM:234100
Addison Disease
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Failure to thrive, Nausea ... ORPHA:85138
Hawkinsinuria
Hypertyrosinemia, Failure to thrive, Sparse hair OMIM:140350
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Short stature, Nail dystrophy, Dysphagia, Anonychia OMIM:616029
Phosphoribosylpyrophosphate Synthetase Superactivity
Small for gestational age, Ataxia, Short stature, Gout, Hyperuricemia, Sparse hair, Increased pho... OMIM:300661
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Scarf Syndrome
Craniosynostosis, Hepatocellular adenoma, Low posterior hairline, Cutis laxa, Joint hyperflexibil... ORPHA:3134
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Ele... OMIM:619127
Sarcoidosis
Hemolytic anemia, Alopecia, Hepatomegaly, Hypercalcemia, Eosinophilia, Portal hypertension, Throm... ORPHA:797
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Abnorma... ORPHA:447
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Resting tremor, Ataxia, Elevated circulating creatine kinase conce... ORPHA:254892
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion ORPHA:163525
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... OMIM:606002
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Rhizomelia, Small for gestational age, Growth delay, Small nail, Nail dysplasia, Spar... OMIM:614813
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... OMIM:613179
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Gastrointestinal dysmotility, Abnormal pyram... ORPHA:2131
Noonan Syndrome 14
Lymphopenia, Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry ... OMIM:619745
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Failure to thrive, Hypertriglyceridemia, Small for gestational age, Clonus, Fa... OMIM:606721
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Premature graying of h... ORPHA:79474
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Feeding difficulties i... ORPHA:355
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Short stature, Aplasia of the thymus, Sparse eyebrow, Prolonged neonatal jaundice,... OMIM:620186
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Short stature, Highly arched eyebrow, Postnatal g... OMIM:613563
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T... OMIM:137440
White-Sutton Syndrome
Joint laxity, Short stature, Obesity, Feeding difficulties, Gastroesophageal reflux, Constipation... OMIM:616364
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Short stature, Epidermal acanthosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole... OMIM:308050
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Epiphyseal stip... OMIM:118650
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Short stature, Sparse eye... OMIM:268400
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Periodic paralysis, Weight loss OMIM:613239
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform lesion, Generalized morning stiffness, Limitation of joint mobility, Oligoarthritis,... ORPHA:85436
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Craniosynostosis, Small for gestational age, Growth delay, Severe intr... OMIM:614114
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Epidermal acanthosis, Alopecia totalis OMIM:300918
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C... OMIM:118450
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Ataxia, Camptodactyly of finger, Abnormal fingernail morphology, Slow-g... ORPHA:2710
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair OMIM:620075
Focal Dermal Hypoplasia
Acute hepatic failure, Alopecia, Camptodactyly of finger, Abdominal pain, Erythema, Gastroesophag... ORPHA:2092
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Curly hair, Sparse scalp hair, Short stature, Large for gestational ... OMIM:607721
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... OMIM:614298
Vulvovaginal Gingival Syndrome
Ridged nail, Erythema, Epidermal acanthosis ORPHA:83453
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Onycholysis, Epidermal acanthosis, Nail dystrophy OMIM:148700
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Rhizomelia, Sparse eyebrow, Neutropenia, Joint hyper... ORPHA:175
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... OMIM:277400
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Eunuchoid habitus, Generalized joint laxity, Osteoporosis, Breast hypoplasia, Sparse ... ORPHA:432
Wrinkly Skin Syndrome
Osteopenia, Short stature, Postnatal growth retardation, Excessive skin wrinkling on dorsum of ha... ORPHA:2834
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Short stature OMIM:617763
Trichorhinophalangeal Syndrome Type 1
Short stature, Camptodactyly of finger, Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hai... ORPHA:77258
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Abnormal intra... ORPHA:363618
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short stature, Sparse eyelashes, Craniosynostosis, Sparse eyebrow, Feeding difficulties, Small na... OMIM:250410
Cockayne Syndrome A
Hip contracture, Failure to thrive, Dry hair, Short stature, Ataxia, Hepatomegaly, Tremor, Spleno... OMIM:216400
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Tremor, Chorea, Vomiting, Hypocalcemia, Nause... ORPHA:94093
Weaver Syndrome
Deep-set nails, Thin nail, Slurred speech, Cutis laxa, Poor fine motor coordination, Fine hair, H... OMIM:277590
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Short stature, Skin ulcer, Fine hair, Sparse hair ORPHA:1806
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... ORPHA:3253
Hamamy Syndrome
Osteopenia, Sparse eyelashes, Recurrent fractures, Craniosynostosis, Microcytic anemia, Sparse ey... OMIM:611174
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... ORPHA:99027
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Glass Syndrome
Short stature, Long eyelashes, Nail dysplasia, Camptodactyly, Sparse hair, Poor suck, Generalized... OMIM:612313
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Ifap Syndrome 2
Sparse hair, Atrichia, Nail dystrophy, Perioral erythema OMIM:619016
Olmsted Syndrome 1
Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope... OMIM:614594
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Hepatomegaly, Splenomegaly, Chronic diarrhea, Dry skin, Aplasia of the sweat g... OMIM:612132
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Alopecia, Brittle hair, Ataxia, Tarsal synostosis, Tremor, Reduced... ORPHA:2750
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Elevated cir... ORPHA:449395
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Ataxia, Decreased liver function OMIM:614863
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Fine hair, Sparse hair, Int... OMIM:613451
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Craniosynostosis, Port... OMIM:620005
Stuve-Wiedemann Syndrome 1
Short stature, Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contrac... OMIM:601559
Revesz Syndrome
Aplastic anemia, Ataxia, Nail pits, Fine hair, Hypertonia, Nail dystrophy, Sparse hair, Intrauter... OMIM:268130
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... ORPHA:140936
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Tremor, Splenom... ORPHA:667
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Growth delay, Hypoplast... OMIM:230740
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Limitation of joint mobility, Short stature, Sparse body hair ORPHA:3068
Kaufman Oculocerebrofacial Syndrome
Short stature, Sparse eyebrow, Feeding difficulties in infancy, Constipation, Hypocholesterolemia... OMIM:244450
Cole Disease
Epidermal acanthosis, Abnormal blood phosphate concentration OMIM:615522
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Scarf Syndrome
Low anterior hairline, Cutis laxa, Low posterior hairline, Hypoplastic nipples, Lambdoidal cranio... OMIM:312830
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Epidermal acanthosis OMIM:608649
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Short stature, Humeroradial synostosis, El... OMIM:151050
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair OMIM:614940
Papillon-Lefèvre Syndrome
Liver abscess, Abnormal fingernail morphology, Osteolysis, Generalized hirsutism, Nail dystrophy,... ORPHA:678
Naxos Disease
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Onychol... OMIM:601214
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pub... ORPHA:2232
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Highly arched eyebro... OMIM:280000
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Decreased circulating cortisol level, Postnatal growth retardation... OMIM:620305
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of th... OMIM:614091
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tremor, Splenomegaly, ... OMIM:615512
Marshall-Smith Syndrome
Decreased hip abduction, Large sternal ossification centers, Short stature, Recurrent fractures, ... OMIM:602535
Opitz-Kaveggia Syndrome
Multiple joint contractures, Short stature, Facial wrinkling, Fine hair, Frontal upsweep of hair,... OMIM:305450
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Sparse eyelashes, Fine hair, Sparse hair, Failure to thrive OMIM:257850
Rodrigues Blindness
Sparse hair, Short stature, Fine hair OMIM:268320
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Periorbital wrinkles, Sparse eyebrow OMIM:224900
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Recurrent fractures, Proportionate short stature, Abnormality of hair... ORPHA:2108
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Splenomegaly,... ORPHA:342
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Cholecystitis, Cirrhosis, Ch... ORPHA:774
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... ORPHA:1578
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Tremor, Synophrys, Hypertonia, Sparse hair, Hepatic steatosis, Short stature, Ataxia,... ORPHA:3455
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Nasogastric tube feed... OMIM:106260
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Joint hyperflexibility, Coarse hair, Sparse hair, Decreased skull os... ORPHA:50814
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Oculodentodigital Dysplasia
Dry hair, Ataxia, Slow-growing hair, Paraparesis, Fine hair, Tetraparesis, Joint contracture of t... OMIM:164200
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Sparse eye... ORPHA:444072
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Tremor, Jaundice, Schistocytosis, Elevated circulating creatinine concentration,... OMIM:274150
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Multiple prenatal fractures, Disproportionate short-limb short stature, Sp... OMIM:618644
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis, Acantholysis, Leukonychia, Nail dystrophy, Anonychia ORPHA:79151
Infantile Digital Fibromatosis
Epidermal acanthosis ORPHA:199267
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Brittle hair, Short stature, Coarse hair, Gastroesophageal reflux, Spar... OMIM:607812
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges ... OMIM:601812
Agel Amyloidosis
Ataxia, Cutis laxa, Abnormal spleen morphology, Nail dystrophy, Sparse hair, Dry skin ORPHA:85448
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Epidermal acanthosis, Leukonychia OMIM:617525
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Chronic diarrhea, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Sp... OMIM:158310
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Nausea and vomiting, Elevated hemoglobin A1c, Tremor, Babinski sign, Feeding difficulties, Hypert... OMIM:616539
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Short stature, Sparse axillary hair, Sparse pubic hair, Osteoporosis, Abnormal circulating cortic... ORPHA:90796
Down Syndrome
Joint laxity, Sparse hair, Obesity, Acute megakaryocytic leukemia ORPHA:870
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis, Nail dystrophy, Finger joint hypermobility OMIM:615225
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Craniosynostosis, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low ... OMIM:608156
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Spasticity, Gastroesophageal reflux, Constipation OMIM:616449
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor functio... OMIM:241080
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra... ORPHA:79102
Marshall Syndrome
Sparse eyelashes, Short stature, Sparse eyebrow, Osteoarthritis, Sparse hair ORPHA:560
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Epidermal acanthosis, Postnatal growth retardation, Contr... ORPHA:83617
Ablepharon Macrostomia Syndrome
Absent eyebrow, Camptodactyly of finger, Redundant skin, Abnormal hair pattern, Absent eyelashes,... ORPHA:920
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis OMIM:615022
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Abdominal distention, Hepatitis, Bloody diarrhea, Hy... ORPHA:436252
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Severe short stature, Alopecia, Osteomalacia, Rigidity... ORPHA:2636
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis OMIM:133200
Huriez Syndrome
Epidermal acanthosis, Nail dystrophy, Small nail OMIM:181600
Myhre Syndrome
Vertebral fusion, Short stature, Small for gestational age, Ataxia, Joint stiffness, Limitation o... OMIM:139210
Myoclonic Epilepsy Of Lafora
Hepatic failure, Myoclonus, Apraxia OMIM:254780
Leukodystrophy, Hypomyelinating, 18
Babinski sign, Flexion contracture, Spastic tetraplegia, Dysmetria, Feeding difficulties, Progres... OMIM:618404
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Jaundice, Dysphagia, Feeding difficulties, Growth delay, Hypertonia, Ne... OMIM:617248
Lafora Disease
Ataxia, Myoclonus, Erratic myoclonus, Spasticity, Hepatic failure, Nasogastric tube feeding ORPHA:501
Chronic Actinic Dermatitis
Epidermal acanthosis ORPHA:330064
Monosomy 22
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Contractures... ORPHA:96123
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Epidermal acanthosis OMIM:613943
Acrokeratoelastoidosis Of Costa
Granulomatosis, Epidermal acanthosis ORPHA:38
Scorpion Envenomation
Hemifacial spasm, Increased circulating NT-proBNP concentration, Ataxia, Elevated circulating asp... ORPHA:466677
Wrinkly Skin Syndrome
Osteopenia, Short stature, Redundant skin, Short nail, Neonatal wrinkled skin of hands and feet, ... OMIM:278250
Congenital Disorder Of Glycosylation, Type Iim
Intrauterine growth retardation, Gastroesophageal reflux, Neonatal hyperbilirubinemia, Thick eyebrow OMIM:300896
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Teebi-Shaltout Syndrome
Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Camptodactyly, Sp... OMIM:272950
Roberts Syndrome
Progressive flexion contractures, Craniosynostosis, Postnatal growth retardation, Knee flexion co... ORPHA:3103
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Sparse scalp hair, Thick eyebrow, Mild postnatal growth retardation, Redundant skin i... OMIM:150230
Costello Syndrome
Deep-set nails, Hyperextensibility of the finger joints, Curly hair, Redundant neck skin, Short s... OMIM:218040
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Portal hypertension OMIM:619431
Scalp-Ear-Nipple Syndrome
Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasi... OMIM:181270
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Short stature, Highly arched eyebrow, Sparse eyebrow, Synophrys, Poor coordina... OMIM:619841
Chime Syndrome
Erythema, Osteolysis, Skin ulcer, Acute leukemia, Fine hair, Sparse hair ORPHA:3474
Alström Syndrome
Hepatic fibrosis, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, Hepatic stea... ORPHA:64
Primrose Syndrome
Hip contracture, Sparse scalp hair, Short stature, Joint hypermobility, Elevated circulating alph... OMIM:259050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Severe short stature, Thin fingernail, Camptodactyly of finger, Abnorma... ORPHA:2273
Intellectual Developmental Disorder, Autosomal Dominant 68
Feeding difficulties, Gastroesophageal reflux, Joint contracture of the 5th finger, Constipation,... OMIM:619934
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis OMIM:148600
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Short stature, Obesity, Feeding difficulties, Gastroesophageal reflux, Spars... OMIM:617157
Punctate Palmoplantar Keratoderma Type 1
Abnormal epidermal morphology, Epidermal acanthosis, Nail dystrophy ORPHA:79501
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Limb hypertonia OMIM:609460
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dry skin, Dystrophic fingernails, Sparse body... OMIM:150400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis OMIM:610227
Orofaciodigital Syndrome I
Alopecia, Dry hair, Short stature, Hepatic fibrosis, Sparse hair, Hepatic cysts OMIM:311200
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Encopresis, Reduced bone mineral density, Feeding difficulties, Gastroesophageal reflux, Constipa... OMIM:616682
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Civatte bodies, Cutis laxa OMIM:264800
Renpenning Syndrome 1
Brittle hair, Short stature, Camptodactyly, Sparse hair, Synostosis of the proximal phalanx of th... OMIM:309500
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Camptodactyly, Sparse hair... OMIM:200110
Neurocardiofaciodigital Syndrome
Small for gestational age, Short stature, Sparse eyebrow, Sparse hair, Failure to thrive OMIM:619869
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... OMIM:129900
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ... ORPHA:548
Focal Dermal Hypoplasia
Joint laxity, Ridged nail, Brittle hair, Short stature, Supernumerary nipple, Patchy alopecia, Hy... OMIM:305600
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ankle flexion contracture, Craniosynostosis, Postnatal growth retardation, Elbo... OMIM:268300
Branchiooculofacial Syndrome
Supernumerary nipple, Postnatal growth retardation, Elbow flexion contracture, Low posterior hair... OMIM:113620
Menke-Hennekam Syndrome 1
Joint hypermobility, Flexion contracture, Feeding difficulties, Chronic constipation, Long eyelas... OMIM:618332
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Rhizomelia, Sparse eyelashes, Supernumerary nipple, Mesomelic/rhizom... OMIM:601803
Scalp-Ear-Nipple Syndrome
Sparse hair, Breast aplasia, Abnormal fingernail morphology ORPHA:2036

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 Degs1

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 Degs1.

No publications found that use IMPC mice or data for Degs1.

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MGI Allele Allele Type Produced
Degs1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Degs1tm109219(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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