Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia |
OMIM:238750 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Asymptomatic hyperammonemia |
OMIM:606762 |
Argininosuccinic Aciduria |
|
Abnormal hair quantity, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, H... |
ORPHA:23 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia |
ORPHA:6 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hyperammonemia, Elevated circulating suberic... |
OMIM:615160 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hyperammonemia |
ORPHA:28 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Developmental And Epileptic Encephalopathy 82 |
|
Hyperammonemia, Decreased body weight |
OMIM:618721 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Hyperammonemia |
OMIM:614111 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Hypoargi... |
OMIM:237300 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Alopecia, Hyperglycinuria, Hyperammonemia, Hyperleucinemia, Failure to thrive |
OMIM:210210 |
Hawkinsinuria |
|
Sparse hair, Abnormal circulating tyrosine concentration, Failure to thrive, Fine hair |
ORPHA:2118 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperornithinemia, Failure to thrive, Homocitrullinuria, Hyperammonemia |
OMIM:238970 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, Episodic ammonia... |
OMIM:207900 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hyperammonemia, Hyperisoleucinemia,... |
ORPHA:2394 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Failure to thrive, Small for gestational age, Hyperammonemia |
OMIM:614702 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm... |
OMIM:603471 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure to thrive |
ORPHA:927 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Sparse hair, Failure to ... |
OMIM:219150 |
Propionic Acidemia |
|
Hyperammonemia |
ORPHA:35 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia, Weight loss |
ORPHA:79242 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse hair |
OMIM:275400 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Small for gestational age, Hyperammonemia |
OMIM:618253 |
Splenoportal Vascular Anomalies |
|
Hyperammonemia |
OMIM:271500 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Long eyelashes, Sparse hair, Neonatal hyperbilirubinemia |
ORPHA:3363 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, Failure to thrive, Hyperammonemia |
OMIM:614739 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia |
ORPHA:35878 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618416 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... |
ORPHA:2985 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Failure to thrive, Hyperammonemia |
ORPHA:247525 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Propionic Acidemia |
|
Failure to thrive, Hyperglycinuria, Hyperglycinemia, Hyperammonemia |
OMIM:606054 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Hyperammonemia |
ORPHA:79312 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hyperammonemia |
OMIM:620137 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Sparse body hair |
ORPHA:85274 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Congenital Disorder Of Glycosylation, Type Ip |
|
Low anterior hairline, Hyperammonemia |
OMIM:613661 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Neonatal death, Hyperammonemia |
OMIM:610015 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Decreased plasma total carnitine, Elevated circulating creatine kinase concentration, H... |
ORPHA:42 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212140 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto... |
OMIM:617049 |
Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive, Sparse body hair |
ORPHA:261483 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Hawkinsinuria |
|
Hypertyrosinemia, Failure to thrive, Sparse hair |
OMIM:140350 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Hyperammonemia, Fine hair, Truncal o... |
OMIM:222700 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia |
ORPHA:289916 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Decreased body weight |
OMIM:618724 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Failure to thrive, Hyperglycinemia, Hyperammonemia |
OMIM:251000 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Small for gestational age, Decreased serum iron, Uncombable hair, Sparse hair, Wool... |
OMIM:614602 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperglycinemia, Hyper... |
OMIM:620358 |
Citrullinemia, Classic |
|
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrulline, Fai... |
OMIM:215700 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Increased circulating NT-proBNP concentration, Elevated circulating creatine kina... |
OMIM:620300 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hyperalaninemia, Hyperammonemia |
OMIM:619051 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hyperammonemia |
OMIM:611719 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair |
OMIM:618625 |
Carnitine Palmitoyltransferase I Deficiency |
|
Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:255120 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Hypoplastic toenails, Elevated circulating lo... |
OMIM:608836 |
Hyperlysinemia |
|
Failure to thrive, Argininuria, Hyperammonemia, Cystinuria, Hyperlysinuria, Hypoornithinemia, Thi... |
ORPHA:2203 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem... |
OMIM:311250 |
Isolated Atp Synthase Deficiency |
|
Hyperalaninemia, Hyperammonemia |
ORPHA:254913 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... |
ORPHA:99901 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... |
OMIM:617093 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Infantile Liver Failure Syndrome 2 |
|
Hyperammonemia |
OMIM:616483 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... |
ORPHA:71212 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia |
ORPHA:27 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Hyperammonemia |
OMIM:616672 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Small for gestational age, Hyperammonemia, Hyperalaninemia, Failure to thrive, Thick eyebrow |
OMIM:615471 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hyperammonemia |
OMIM:610678 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Hyperammonemia |
OMIM:615453 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
Hsd10 Disease, Infantile Type |
|
Hyperammonemia |
ORPHA:391428 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight |
ORPHA:1667 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Failure to thrive, Hyperglycinemia, Hyperammonemia |
OMIM:251110 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hyperammonemia |
ORPHA:1194 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Small for gestational age, Hyperammonemia, Neonatal death, Hyperalaninemia, Failure to thrive |
OMIM:614052 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia |
OMIM:253270 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Failure to thrive |
OMIM:210200 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Obesity, Low posterior hairline |
ORPHA:2183 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:201475 |
Rett Syndrome |
|
Increased serum pyruvate, Failure to thrive, Hyperammonemia |
ORPHA:778 |
Filippi Syndrome |
|
Sparse hair, Frontal hirsutism, Hypertrichosis, Decreased body weight |
OMIM:272440 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Sparse facial hair, Sparse axillary hair, Failure to thrive, Slender b... |
OMIM:608154 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
Argininemia |
|
Diaminoaciduria, Hyperargininemia, Hyperammonemia |
OMIM:207800 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hyperammonemia,... |
ORPHA:3008 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Hyperammonemia, Weight loss |
ORPHA:134 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Failure to thrive, Hyperglycinemia, Hyperammonemia |
OMIM:251100 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair |
ORPHA:79402 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Failure to thrive, Hyperammonemia |
OMIM:615486 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... |
OMIM:242150 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
ORPHA:26791 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated creatine kinase after exercise, Hypera... |
ORPHA:159 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Generalized hirsutism, Long eyelashes in irregular rows, ... |
ORPHA:2963 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Synophrys, Sparse ... |
OMIM:611091 |
Biotinidase Deficiency |
|
Alopecia, Hyperammonemia |
OMIM:253260 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
Infantile Liver Failure Syndrome 3 |
|
Hyperammonemia |
OMIM:618641 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Aminoaciduria, Hypoplastic nipples, Small nail |
OMIM:273400 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Dystrophic toenail, Pat... |
ORPHA:2930 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Hyperammonemia, Weight loss |
ORPHA:20 |
Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Hyperammonemia |
OMIM:616457 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair |
ORPHA:3051 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
OMIM:616878 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
ORPHA:480864 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair |
ORPHA:59303 |
Biotinidase Deficiency |
|
Alopecia, Hyperammonemia |
ORPHA:79241 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Failure to thrive, Nail dystrophy |
OMIM:616353 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Small for gestational age, Sparse body hair |
OMIM:300869 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperammonemia, Elevated circulating palmitoleylcarnit... |
ORPHA:79282 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Beta-alaninuria, Elevated urinary aminoisobutyric acid, Sparse hair |
OMIM:614105 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperornithinemia, Failure to thrive, Abnormal circulating citrulline concentration, Hyperammonemia |
ORPHA:415 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
Menkes Disease |
|
Brittle hair, Alopecia, Decreased circulating ceruloplasmin concentration, Sparse hair |
OMIM:309400 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Failure to thrive |
ORPHA:2316 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Obesity, Sparse body hair |
ORPHA:2234 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Small for gestational age, Synophrys, Low anterior hairline, Fine hair, Decreased body weight, Sp... |
ORPHA:391408 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hai... |
ORPHA:217346 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Small for gestational age, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy,... |
OMIM:601675 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia |
ORPHA:884 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Small for gestational age, Fine hair |
OMIM:616817 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair, Failure to thrive |
OMIM:620001 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
Fanconi Anemia, Complementation Group S |
|
Sparse hair, Failure to thrive, Low anterior hairline, Long eyelashes |
OMIM:617883 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Small for gestational age |
OMIM:610756 |
Even-Plus Syndrome |
|
Sparse hair, Synophrys, Highly arched eyebrow |
OMIM:616854 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... |
ORPHA:140936 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increased circulati... |
OMIM:619991 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp |
OMIM:615280 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive |
OMIM:617988 |
Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, Truncal obesity, High anterior hairline |
ORPHA:284180 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl |
ORPHA:2872 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... |
ORPHA:3253 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Failure to thrive, Hyperconvex nail |
OMIM:619721 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Failure to thrive, Nail dystrophy |
ORPHA:98813 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
Noonan Syndrome 6 |
|
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline |
OMIM:613224 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Small for gestational age, Low posterior hairline |
OMIM:613174 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Highly arched eyebrow, Low anterior hairline, Hyperammonemia, Failure ... |
OMIM:220111 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Elevated circulating C-reactive protein concentration, Nail dystro... |
OMIM:615934 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Joubert Syndrome 37 |
|
Sparse hair, Obesity |
OMIM:619185 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy |
ORPHA:100976 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair, Decreased body weight |
OMIM:616200 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Patch... |
OMIM:302960 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Small for gestational age, Fine hair, Increased serum iron, Hypoalbumin... |
OMIM:222470 |
Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Truncal obesity, Thick eyebrow |
ORPHA:127 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Sparse hair, Hyperch... |
ORPHA:2457 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... |
OMIM:308300 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
Aredyld Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Cachexia |
ORPHA:1133 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Sparse hair, Failure to thrive |
OMIM:613026 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... |
OMIM:106260 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl... |
ORPHA:974 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair |
OMIM:607626 |
Lamellar Ichthyosis |
|
Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
Short Syndrome |
|
Sparse hair, Alopecia, Weight loss |
ORPHA:3163 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick hair, Coarse hair, Abnormal circulating apolipoprotein concentration, Sparse hair, Failure ... |
ORPHA:357074 |
Macs Syndrome |
|
Sparse hair, Alopecia, Sparse eyebrow, Decreased body weight |
OMIM:613075 |
Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ... |
OMIM:615485 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Failure to thrive in infancy, Slow-growing hair, Abnormal eyelash morphology, Low p... |
ORPHA:1340 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Hyperlipidemia, Brittle hair |
OMIM:608612 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ... |
OMIM:268400 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Hirsutism, Long eyelashes, Sparse hair, Failure to thrive, Thick eyebrow |
OMIM:212066 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair |
OMIM:257850 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection |
OMIM:158310 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair |
OMIM:268020 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Small for gestational age, Failure to thrive in infancy, Fine hair, Sparse hair |
OMIM:618891 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Small for gestational age, Nail dysplasia, Small nail, Sparse hair, Failure to thrive, Breast hyp... |
OMIM:614813 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Small for gestational age, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small ... |
ORPHA:2909 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair |
OMIM:614091 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Sparse h... |
OMIM:115150 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... |
OMIM:617506 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H... |
ORPHA:363618 |
White-Sutton Syndrome |
|
Sparse hair, Failure to thrive, Obesity |
OMIM:616364 |
Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... |
ORPHA:678 |
Noonan Syndrome 14 |
|
Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline |
OMIM:619745 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Large for gestational age, Loose anagen hair, Long eyelashes, Spar... |
OMIM:607721 |
Acute Liver Failure |
|
Hyperammonemia |
ORPHA:90062 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Small for gestational age, Hyperuricemia |
OMIM:300661 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair, Truncal obesity, Abnormal circulating lipid concentration |
OMIM:616541 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Scarf Syndrome |
|
Sparse hair, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
Bone Marrow Failure Syndrome 3 |
|
Nail dystrophy, Small nail, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow |
OMIM:617052 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... |
ORPHA:2710 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Decreased body weight |
OMIM:615349 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
Down Syndrome |
|
Sparse hair, Obesity |
ORPHA:870 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Fine hair, Sparse... |
OMIM:234100 |
Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma, Nail dystrophy, Spar... |
ORPHA:477 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Sparse medial eyebrow, Low anterior hairline, Low po... |
OMIM:601358 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse hair, Aplasia of the sweat glands, Failure to thrive, Sparse scalp hair |
OMIM:612132 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Failure to thrive, Sparse eyebrow, Hypocholesterolemia |
OMIM:244450 |
Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... |
OMIM:150400 |
Scarf Syndrome |
|
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline |
OMIM:312830 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Small for gestational age, Alopecia totalis, Sparse or absent eyelashes, Nail dysplas... |
ORPHA:221008 |
Marshall Syndrome |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair, Small for gestational age |
OMIM:614114 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair |
OMIM:616449 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... |
ORPHA:1775 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Fine hair |
OMIM:614438 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Failure to thrive, Sparse eyebrow, Fine hair |
ORPHA:444072 |
Glass Syndrome |
|
Sparse hair, Long eyelashes, Nail dysplasia |
OMIM:612313 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Small for gestational age, Alopecia totalis, Sparse or absent eyelashes, Nail dysplas... |
ORPHA:221016 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Decreased body weight, Sparse hair, Failure to th... |
OMIM:602535 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
Weaver Syndrome |
|
Sparse hair, Thin nail, Deep-set nails, Fine hair |
OMIM:277590 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Cranioectodermal Dysplasia 3 |
|
Sparse hair, Short nail, Broad nail, Fine hair |
OMIM:614099 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sparse hair, Synophrys, Toenail dysplasia, Hirsutism |
OMIM:300966 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Failure to thrive |
OMIM:613563 |
Teebi-Shaltout Syndrome |
|
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair |
OMIM:272950 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Increased serum beta-hexosaminidase, Sparse eyebrow, Sparse hair, Failure to thrive |
OMIM:252500 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Failure to thrive |
OMIM:601812 |
Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Small for gestational age, Thin nail |
OMIM:617799 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Sparse body hair, Breast hypoplasia |
ORPHA:432 |
De Barsy Syndrome |
|
Sparse hair, Failure to thrive |
ORPHA:2962 |
Cartilage-Hair Hypoplasia |
|
Sparse hair, Failure to thrive, Hypocalcemia, Sparse eyebrow |
ORPHA:175 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
Cockayne Syndrome B |
|
Dry hair, Small for gestational age, Abnormal hair morphology, Sparse hair, Severe failure to thr... |
OMIM:133540 |
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 |
Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Agel Amyloidosis |
|
Sparse hair, Nail dystrophy |
ORPHA:85448 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Sparse hair, Failure to thrive, Nail dystrophy, Alopecia universalis |
ORPHA:158668 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia |
ORPHA:920 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Hyperlipidemia, Fine hair |
OMIM:241080 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Large for gestational age, Fine hair, Hypoplastic nipples, Sparse hair, Sp... |
OMIM:280000 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, Fine hair, Hypocalcemia, Sparse hair |
OMIM:218330 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Decreased body weight, Hypertriglyceridemia, Alopecia, Abnormal hair morp... |
ORPHA:79474 |
Neurocardiofaciodigital Syndrome |
|
Sparse hair, Failure to thrive, Small for gestational age, Sparse eyebrow |
OMIM:619869 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair |
OMIM:601559 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Stillbirth, Hyperbilirubinemia, S... |
OMIM:210710 |
Myhre Syndrome |
|
Small for gestational age, Obesity, Fine hair, Sparse hair, Thick eyebrow |
OMIM:139210 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy |
ORPHA:436252 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
Monosomy 22 |
|
Sparse hair, Synophrys |
ORPHA:96123 |
Orofaciodigital Syndrome Type 1 |
|
Sparse hair, Alopecia, Coarse hair, Brittle hair |
ORPHA:2750 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Hypertriglyceridemia, Small for gestational age, Sparse hair, Hypercholesterol... |
OMIM:606721 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair, Failure to thrive |
OMIM:151050 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Sparse eyebrow, Hypoplastic nipples, Small nail, Unconjugated hyperbilirubinemia, ... |
OMIM:620186 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
Cockayne Syndrome A |
|
Sparse hair, Dry hair, Failure to thrive |
OMIM:216400 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Failure to thrive, Fragile nails |
OMIM:218040 |
Cranioectodermal Dysplasia 2 |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow, Hyperbilirubinemia |
OMIM:613610 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ... |
OMIM:619841 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Sparse pubic hair, Failure to thrive, Sparse body hair, Sparse axillary hair |
ORPHA:90796 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Sparse eyebrow, Nail dystrophy, Sparse hair |
OMIM:619127 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sparse hair, Frontal hirsutism, Failure to thrive, Obesity |
OMIM:617157 |
Chime Syndrome |
|
Sparse hair, Fine hair |
ORPHA:3474 |
Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Breast aplasia, Abnormal fingernail morphology |
ORPHA:2036 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair |
OMIM:619934 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... |
OMIM:305600 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Sparse hair |
OMIM:620005 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Hypertriglyceridemia, Synophrys, Sparse hair, Failure to thrive, Slender build... |
ORPHA:3455 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail |
OMIM:200110 |
Roberts Syndrome |
|
Sparse hair |
ORPHA:3103 |
Wrinkly Skin Syndrome |
|
Sparse hair, Failure to thrive, High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
Renpenning Syndrome 1 |
|
Sparse hair, Brittle hair, Sparse lateral eyebrow |
OMIM:309500 |
Wrinkly Skin Syndrome |
|
Sparse hair, Failure to thrive, Short nail, Fragile nails |
OMIM:278250 |
Restrictive Dermopathy |
|
Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye... |
ORPHA:1662 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair |
ORPHA:548 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Thick eyebrow, Sparse hair, Alopecia of scalp, Fragile nails |
OMIM:150230 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Nail dysplasia |
OMIM:616682 |
Primrose Syndrome |
|
Sparse scalp hair, Absent facial hair, Elevated circulating alpha-fetoprotein concentration, Syno... |
OMIM:259050 |
Menke-Hennekam Syndrome 1 |
|
Sparse hair, Long eyelashes, Thick eyebrow |
OMIM:618332 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h... |
OMIM:113620 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |
Roberts-Sc Phocomelia Syndrome |
|
Sparse hair, Stillbirth |
OMIM:268300 |