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Gene: Mthfr MGI:106639

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
methylenetetrahydrofolate reductase
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Mthfr 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 Mthfr by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Proptosis ORPHA:563612
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria OMIM:236250
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Homocystinuria ORPHA:395
Isolated Anencephaly
Intrauterine growth retardation ORPHA:563609
Schizophrenia
OMIM:181500
Neural Tube Defects, Folate-Sensitive
OMIM:601634
Thrombophilia Due To Thrombin Defect
OMIM:188050

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Filippi Syndrome
Cerebellar atrophy, Postnatal growth retardation, Cryptorchidism, Proptosis, Sparse hair, Decreas... OMIM:272440
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Thoracic scoliosis, Short stature, Hypoplasia of the pons, Proptosis, Lumbar ... OMIM:616171
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Microcephaly 5, Primary, Autosomal Recessive
Proptosis, Short stature, Cerebellar hypoplasia, Highly arched eyebrow OMIM:608716
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Xq27.3Q28 Duplication Syndrome
Short stature, Cryptorchidism, Truncal obesity, Deeply set eye, Hypogonadism, Sparse body hair, I... ORPHA:261483
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function OMIM:616829
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse bod... ORPHA:85274
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Growth delay, Sparse hair OMIM:246500
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Severe short stature, Hypogonadotropic hypogonadism, Small for gestational a... OMIM:275400
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Short stature, Hypoplasia of the pons, Proptosis, Cerebellar hypoplasia, Decr... OMIM:608027
19P13.12 Microdeletion Syndrome
Hypospadias, Aplasia/Hypoplasia of the cerebellar vermis, Short neck, Kyphosis, Hyperlipidemia, P... ORPHA:254346
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Abnormal form of the vertebral bodies, Proptosis, Scoliosis, Intrauterine growth r... ORPHA:2370
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Short stature, Highly arched eyebrow, Hypertelorism, Kyphosis, Proptos... OMIM:615834
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased muscle lipid content... OMIM:610717
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Kyphosis, Short stature, Hirsutism ORPHA:85288
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Hypertelorism, Kyphosis, Synophrys, Scoliosis, Hypertrichosis ORPHA:85317
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Tetralogy Of Fallot
Intrauterine growth retardation, Proptosis, Cryptorchidism ORPHA:3303
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair ORPHA:2574
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Cryptorchidism, Growth delay, Hypogonadism, Long eyelashes, ... ORPHA:3363
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Short stature, Highly arched eyebrow, Hypertelorism, Kyphosis, Cryptor... ORPHA:352490
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short stature, Hypoplasia of the odontoid process, Platyspondyl... ORPHA:85172
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Hypertelorism, Kyphosis, Synophrys, Scoliosis, Hirsutism OMIM:300861
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Hypertelorism, Kyphosis, Scoliosis, Hirsutism OMIM:300434
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow OMIM:606242
Pontocerebellar Hypoplasia Type 10
Growth delay, Proptosis, Long eyelashes, Highly arched eyebrow ORPHA:411493
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Parastremmatic Dwarfism
Kyphosis, Severe short stature, Scoliosis, Short neck OMIM:168400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Kyphosis, Cryptorchidism, Elev... OMIM:615381
Joubert Syndrome 37
Hepatomegaly, Cerebellar vermis hypoplasia, Lumbar hyperlordosis, Short stature, Hypertelorism, C... OMIM:619185
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Hepatic steatosis OMIM:615703
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Deeply set eye, Scolios... ORPHA:2429
Borjeson-Forssman-Lehmann Syndrome
Short stature, Kyphosis, Cryptorchidism, Obesity, Hypoplasia of the prostate, Deeply set eye, Sco... OMIM:301900
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Small for gestational age, Hypertelorism, Woolly hair, Chronic hepati... OMIM:614602
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Desbuquois Syndrome
Severe short stature, Short neck, Abnormal eyelash morphology, Proptosis, Disproportionate short-... ORPHA:1425
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Hypertelorism ORPHA:35099
Donohue Syndrome
Postnatal growth retardation, Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Proptosi... OMIM:246200
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis OMIM:620357
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Proptosis, Scoliosis OMIM:617481
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Proptosis, Short neck ORPHA:1832
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... ORPHA:40
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Absent facial hair, Short neck, Sparse facial hair... ORPHA:2183
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating creatinine concentration, Hepatic failure, Hepatic steatosis OMIM:617872
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... ORPHA:2985
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypertelorism, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Chiari malforma... ORPHA:93262
Developmental And Epileptic Encephalopathy 48
Cerebellar atrophy, Proptosis, Long eyelashes OMIM:617276
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Tetralogy Of Fallot
Proptosis OMIM:187500
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hepat... OMIM:612526
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Short neck, Hemivertebrae, ... ORPHA:2234
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Failure to thrive, Intrauterine growth retardation OMIM:618237
Anauxetic Dysplasia 2
Short stature, Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, P... OMIM:617396
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Hi... OMIM:612847
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis, Short stature OMIM:618492
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Small for gestational age, Kyphoscoliosis, Growth delay, Deeply set eye, Sparse ha... OMIM:610756
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Highly arched eyebrow, Proptosis, Lo... OMIM:619451
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Small for gestational age, Cryptorchidism, Deeply set eye, Abdominal obesity, Hypo... OMIM:300869
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Male hyp... OMIM:618625
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Small for gestational age, Short stature, Proptosis, Decreased body weight, Intrauterine growth r... OMIM:618346
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral heig... OMIM:616817
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Small for gestational age, Kyphoscoliosis, Short neck, Proportionate short stature, Synophrys, Lo... ORPHA:391408
Ritscher-Schinzel Syndrome 4
Curly hair, Short stature, Hypertelorism, Cryptorchidism, Hypotelorism, Deeply set eye, Proptosis... OMIM:619435
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Short stature, Growth delay, Scolios... ORPHA:2850
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Hypertelorism, Kyphosis, Obesity, Scoliosis ORPHA:276630
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypertelorism, Cryptorchidism, Proptosis, Long eyelashes, Scoliosis, Hypoplastic female external ... OMIM:618577
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Ma... ORPHA:209902
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Low anterior hairline, Absent toenail, Long eyelashes, Small nai... OMIM:618658
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Short stature, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Crypt... ORPHA:3085
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... OMIM:271530
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Cherubism
Proptosis ORPHA:184
Sandhoff Disease
Hepatomegaly, Splenomegaly, Kyphosis, Abnormal glycosphingolipid metabolism, Failure to thrive ORPHA:796
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Thoracic scoliosis, Cerebellar vermis hypoplasia, Short stature, Rhizomelia, ... OMIM:611209
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Failure to thrive, Moderately short stature, Proptosis ORPHA:157965
Heyn-Sproul-Jackson Syndrome
Sparse hair, Intrauterine growth retardation, Severe short stature, Decreased body weight OMIM:618724
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Proptosis ORPHA:2522
Crandall Syndrome
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... ORPHA:202
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Neoplasm of the pancreas, Precocious puberty, Panc... ORPHA:370348
Tyrosinosis
Hypertyrosinemia OMIM:276800
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive OMIM:618234
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Marshall-Smith Syndrome
Hypertelorism, Proptosis, Cerebellar hypoplasia, Scoliosis, Failure to thrive, Generalized hirsutism ORPHA:561
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis ORPHA:280356
Intellectual Developmental Disorder, Autosomal Recessive 5
Short stature, Small for gestational age, Hypertelorism, Postnatal growth retardation, Synophrys,... OMIM:611091
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short stature, Coarse hair, Proptosis, Aplasia/Hypoplasia of the cerebellum, Spina bifida occulta ORPHA:1185
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Tiger tail banding, Reduced hair ... OMIM:300953
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotr... OMIM:278000
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Sacral dimple, Cerebellar vermis hypoplasia, Short neck, Postnatal growth ret... OMIM:300966
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Short stature,... OMIM:268020
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Dpm1-Cdg
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, External genital hypoplasia, Hyp... ORPHA:79322
Cdkl5-Deficiency Disorder
Kyphosis, Synophrys, Growth delay, Deeply set eye, Scoliosis ORPHA:505652
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertelori... OMIM:264470
Hypophosphatasia, Childhood
Proptosis, Short stature OMIM:241510
Crouzon Syndrome
Hypertelorism, Abnormal sacrum morphology, Chiari malformation, Proptosis, Cerebellar hypoplasia ORPHA:207
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Hypertelorism, Kyphosis, Cryptorchidism, Frontal upsweep of hair, Scoliosis OMIM:619797
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... ORPHA:528
Kleeblattschaedel
Proptosis OMIM:148800
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Short stature, Decreased body weight OMIM:618392
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Hepatic steatosis ORPHA:26792
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Short stature, Sparse facial hair, Sparse axillary hair, Deeply set ey... OMIM:608154
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anon... OMIM:616455
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Hypertelorism, Hypotelorism, Low posterior hairline, Proptosis, Scolio... OMIM:613174
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Bainbridge-Ropers Syndrome
Thick eyebrow, Highly arched eyebrow, Supernumerary nipple, Precocious puberty, Cryptorchidism, S... OMIM:615485
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Deeply se... OMIM:619013
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, ... ORPHA:2251
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Sacral dimple, Short stature, Hypospadias, Hypertelorism, Widow's peak, Proptosis,... OMIM:239710
Holoprosencephaly 11
Synophrys, Hypotelorism, Proptosis, Polysplenia, Thick eyebrow OMIM:614226
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
4Q21 Microdeletion Syndrome
Short neck, Hypertelorism, Kyphosis, Synophrys, Growth delay, Long eyelashes, Cerebellar hypoplas... ORPHA:238750
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Hypertelorism, Increased intervertebral space, Thoracic platyspondyly, Proptosis, Beaking of vert... OMIM:618961
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis OMIM:616756
Mcdonough Syndrome
Short stature, Cachexia, Hypertelorism, Kyphosis, Cryptorchidism, Synophrys, Scoliosis ORPHA:2471
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Short stature, Hyperlordosis, Low posterior hairline, Vertebral segmentation defect, Proptosis, S... ORPHA:1323
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Platyspondyly ORPHA:2786
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Shashi-Pena Syndrome
Highly arched eyebrow, Hypertelorism, Kyphosis, Synophrys, Hypertrichosis, Proptosis, Long eyelas... OMIM:617190
Xp22.13P22.2 Duplication Syndrome
Short stature, Short neck, Hypertelorism, Polycystic ovaries, Truncal obesity, Sparse hair, Scoli... ORPHA:284180
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short neck, Hypertelorism, Synophrys, Obesity, Fine hair, Proptosis, Thoracic kyphosis, Long eyel... OMIM:620250
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis, Rhizomelia, Obesity, Short neck OMIM:618821
Microhydranencephaly
Growth delay, Proptosis, Short stature, Cerebellar hypoplasia OMIM:605013
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Hypertelorism, Abnormal form of the vertebra... ORPHA:2789
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature OMIM:618453
Winchester Syndrome
Kyphosis, Hirsutism OMIM:277950
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypertelorism, Deeply set eye, Sparse hair, Intrauterine growth retardation, Failure to thrive, A... ORPHA:261304
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Short stature OMIM:620007
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Thoracolumbar scoliosis, Hypertelorism, Kyphosis, Platyspondyly, Abnormalit... OMIM:313420
Pycnodysostosis
Ridged nail, Rhizomelia, Hyperlordosis, Overweight, Kyphosis, Hepatosplenomegaly, Chiari malforma... ORPHA:763
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hypertelorism, Cerebellar vermis atrophy, Deeply set eye, Cerebellar hypoplasia, Sparse hair, Hir... OMIM:618087
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Postnatal growth retardation, Precocious puberty, Obesity, Scoliosis, Intra... ORPHA:254531
Shukla-Vernon Syndrome
Cerebellar atrophy, Sparse hair, Hypertelorism OMIM:301029
Srd5A3-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Abnormal hair morphology, Kyphosis, Abnormal s... ORPHA:324737
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Gillessen-Kaesbach-Nishimura Syndrome
Hypertelorism, Frontotemporal hypertrichosis, Short neck, Periportal fibrosis, Bicornuate uterus,... OMIM:263210
Hall-Riggs Syndrome
Hypertelorism, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine gr... OMIM:234250
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis OMIM:617404
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Optic Pathway Glioma
Growth delay, Precocious puberty, Proptosis ORPHA:2086
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Gand Syndrome
Sparse hair, Deeply set eye, Hypertelorism OMIM:615074
Vitamin K Antagonist Embryofetopathy
Hypertelorism, Short neck, Punctate vertebral calcifications, Proptosis, Intrauterine growth reta... ORPHA:1914
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis, Short stature ORPHA:2776
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Prolonged neonatal jaundice, Deeply set eye, Cryptorchidism OMIM:618512
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Kyphosis, Coarse hair, Scoliosis, Sparse hair ORPHA:1883
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypertelorism, Splen... OMIM:170100
Fg Syndrome 3
Cryptorchidism, Fine hair, Chiari type I malformation, Frontal upsweep of hair, Sparse hair OMIM:300406
Periventricular Nodular Heterotopia 7
Hypertelorism, Cryptorchidism, Deeply set eye, Proptosis, Failure to thrive OMIM:617201
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Cerebellar hypoplasia, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Fa... OMIM:616353
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Proptosis, Disproportionate short-... ORPHA:2655
Trichohepatoenteric Syndrome 1
Brittle hair, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, Hepatomegaly, Short... OMIM:222470
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Kyphosis, Cryptorchidism, Low posterior hairline, P... ORPHA:2617
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Hepatomegaly, Short stature, Pancreatic fibrosis, Hypertelorism, Postnatal gr... OMIM:616263
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentra... OMIM:605814
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Thick eyebrow, Cerebellar vermis hypoplasia, Low anterior hairline, Long eyelashes, Cerebellar hy... OMIM:616819
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cr... ORPHA:3051
Cardiocranial Syndrome, Pfeiffer Type
Short stature, Hypospadias, Hypertelorism, Cryptorchidism, Abnormal hair whorl, Growth delay, Spa... ORPHA:2872
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism OMIM:604931
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Abnormal reproductive system morphology, Decreased liver function, Fail... ORPHA:70472
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Short stature, Hypergonadotropic hypogonadism, Kyphosis, Scoliosis, Failure t... OMIM:248800
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Hirsutism, Polycystic ovaries OMIM:608709
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Cerebellar vermis atrophy, Fine hair, S... OMIM:617988
Desbuquois Dysplasia 1
Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity, Growth delay, Platyspondyly, ... OMIM:251450
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Hepatomegaly, Short neck, Hypertelorism, Kyphosis, Hepatosplenomegaly, Failur... OMIM:608776
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Failure to thrive in infancy, Short ... OMIM:613385
Hemifacial Atrophy, Progressive
Kyphosis, Patchy alopecia, Deeply set eye, Poliosis OMIM:141300
Bohring-Opitz Syndrome
Sacral dimple, Short stature, Thick hair, Supernumerary nipple, Mesomelic/rhizomelic limb shorten... OMIM:605039
Hawkinsinuria
Sparse hair, Failure to thrive, Fine hair ORPHA:2118
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Short stature, Sparse eyelashes, Cerebellar hypoplasia, Scoliosis, Sp... OMIM:615280
Frias Syndrome
Proptosis, Short stature, Hypertelorism OMIM:609640
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... OMIM:610198
Tyshchenko Syndrome
Short stature, Thick hair, Supernumerary nipple, Cryptorchidism, Low anterior hairline, Proptosis... OMIM:615102
Temple Syndrome
Hypertriglyceridemia, Short stature, Hypercholesterolemia, Small for gestational age, Precocious ... OMIM:616222
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Brittle hair, Kyphoscoliosis, Methioninuria, Scoliosis, Biconcave vertebral bo... OMIM:236200
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hyperglycinuria OMIM:201450
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Wilson Disease
Back pain, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaun... ORPHA:905
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Temple Syndrome
Short stature, Small for gestational age, Postnatal growth retardation, Cryptorchidism, Precociou... ORPHA:254516
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Failure to thrive, Cerebellar vermis hypoplasia, Hypertelorism OMIM:620001
Aminopterin/Methotrexate Embryofetopathy
Abnormal fingernail morphology, Short stature, Hypertelorism, Proptosis, Small nail, Aplasia/Hypo... ORPHA:1908
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ... ORPHA:79303
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Hemochromatosis, Type 4
Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:606069
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Short stature, Deeply set eye, Patchy alopecia, Cerebellar hypoplasia, Sparse... OMIM:617763
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertelorism, Postnatal growth retardation, Abnorma... ORPHA:73230
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low p... ORPHA:2983
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Lumbar hyperlordosis, Hepatic steatosis, Abdominal obesity OMIM:615980
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Kyphosis, Long eyelashes, Scoliosis, Intrauterine g... ORPHA:48431
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Donnai-Barrow Syndrome
Hypertelorism, Widow's peak, Bicornuate uterus, Proptosis, Abnormality of the uterus ORPHA:2143
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring ... ORPHA:59303
Bardet-Biedl Syndrome 19
Hepatic steatosis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615996
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Proptosis ORPHA:90653
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Highly arched eyebrow OMIM:609384
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Short stature, Hypospadias, Kyphosis, Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed pu... OMIM:300354
Spondylocostal Dysostosis 3, Autosomal Recessive
Short stature, Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoli... OMIM:609813
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Hypertelorism, Kyphosis, Moderate postnatal growth retardation, V... ORPHA:1005
Distal Deletion 10Q
Failure to thrive, Lumbar hyperlordosis, Short stature, Postnatal growth retardation, Hypoplastic... ORPHA:96148
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Kyphosis, Scoliosis OMIM:610743
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... ORPHA:71
Teebi Hypertelorism Syndrome 2
Proptosis, Hypospadias, Thick eyebrow, Hypertelorism OMIM:619736
Pontocerebellar Hypoplasia, Type 17
Cerebellar vermis hypoplasia, Hypertelorism, Hypoplasia of the pons, Kyphosis, Low anterior hairl... OMIM:619909
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Cole-Carpenter Syndrome 2
Short stature, Hypertelorism, Postnatal growth retardation, Kyphosis, Platyspondyly, Proptosis OMIM:616294
20Q13.33 Microdeletion Syndrome
Sacral dimple, Hypospadias, Decreased scrotal rugation, Small for gestational age, Failure to thr... ORPHA:261311
Acquired Partial Lipodystrophy
Hepatic steatosis, Generalized hirsutism ORPHA:79087
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Short stature, Cryptorchidism, Truncal obesity, Deeply set ey... ORPHA:127
Ogden Syndrome
Postnatal growth retardation, Cryptorchidism, Fine hair, Proptosis, Scoliosis, Aplasia/Hypoplasia... ORPHA:276432
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Hypercholesterolemia, Small for gestational age, Postnatal growth retardation, Pre... ORPHA:96184
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Short stature, Hepatocellular carcinoma, Premature graying of hair, Hypo... OMIM:616200
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Proptosis, Short stature ORPHA:93274
Tetrasomy 12P
Short stature, Cachexia, Short neck, Sparse eyebrow, Hypertelorism, Sparse hair ORPHA:884
Noonan Syndrome 6
Curly hair, Short stature, Long eyebrows, Short neck, Hypertelorism, Cryptorchidism, Low posterio... OMIM:613224
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Kyphosis, Cerebellar vermis atrophy, Scoliosis OMIM:617435
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Hepatomegaly, Short stature, Thoracolumbar scoliosis, Hyperlordosis, Hypertel... OMIM:618443
15Q24 Microdeletion Syndrome
Short stature, Hypospadias, Small for gestational age, Hypertelorism, Postnatal growth retardatio... ORPHA:94065
Neu-Laxova Syndrome 2
Hypertelorism, Short neck, Proptosis, Cerebellar hypoplasia, Scoliosis, Intrauterine growth retar... OMIM:616038
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short stature, Short neck, Postnatal growth retardation, Hypertelorism, Fine hair, Proptosis, Thi... OMIM:614800
Chops Syndrome
Curly hair, Short stature, Thick hair, Hypertelorism, Cryptorchidism, Synophrys, Splenomegaly, Ob... OMIM:616368
Acrofacial Dysostosis, Palagonia Type
Short stature, Sparse eyelashes, Short neck, Low anterior hairline, Abnormal form of the vertebra... ORPHA:1787
Aredyld
Generalized hypotrichosis OMIM:207780
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Short stature, Kyphoscoliosis, Cervical spine instability, Platyspondyly, Proptosis, Decreased bo... OMIM:615349
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Spinal rigidi... OMIM:615084
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Brittle hair, Short stature, Hypospadias, Small for gestational age, Failure ... OMIM:618891
Caffey Disease
Proptosis, Scoliosis ORPHA:1310
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Kyphoscoliosis, Short neck, Postnatal growth retardation, Sparse ey... OMIM:302960
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Short stature, Slow-growing hair, Short neck, Abnormal hair morphology, Cryp... ORPHA:3082
Xylt1-Cdg
Hepatomegaly, Short stature, Synophrys, Growth delay, Truncal obesity, Proptosis, Hirsutism ORPHA:370930
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:79085
Progeroid Syndrome, Petty Type
Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in... ORPHA:2963
Ichthyosis, Congenital, Autosomal Recessive 4B
Failure to thrive, Proptosis OMIM:242500
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Hyper... OMIM:203800
Chondrodysplasia With Joint Dislocations, Gpapp Type
Proptosis, Short stature, Intervertebral space narrowing OMIM:614078
Trisomy 12P
Short stature, Supernumerary nipple, Hypertelorism, Short neck, Proptosis, Thick eyebrow ORPHA:1699
Neu-Laxova Syndrome
External genital hypoplasia, Hypertelorism, Abnormal eyelash morphology, Abnormal hair morphology... ORPHA:2671
Graves Disease, Susceptibility To, 1
Proptosis, Onycholysis, Weight loss OMIM:275000
Crouzon Syndrome With Acanthosis Nigricans
Proptosis, Hypertelorism OMIM:612247
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Masa Syndrome
Kyphosis, Short stature, Hyperlordosis OMIM:303350
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Hypergo... OMIM:212065
Fanconi Anemia, Complementation Group S
Short stature, Hypertelorism, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian ca... OMIM:617883
Hypomelanosis Of Ito
Kyphosis, Alopecia, Scoliosis, Hypertelorism OMIM:300337
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Increased sarco... ORPHA:264580
Craniofaciofrontodigital Syndrome
Short stature, Thick hair, Large for gestational age, Hypertelorism, Low anterior hairline, Sacra... ORPHA:363705
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypospadias, Cerebellar hypoplasia, Sparse hair, Intrauterine growth r... OMIM:618253
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal vertebral morphology, Precocious puberty ORPHA:280195
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Short stature, Growth delay, Scoliosis, Spina bifida occulta, Sparse body hair ORPHA:177
Even-Plus Syndrome
Severe short stature, Highly arched eyebrow, Short neck, Synophrys, Vertebral clefting, Coronal c... OMIM:616854
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Short stature, Sparse eyebrow, Hypertelorism OMIM:619989
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Growth delay, Nail dystrophy, Anonychia, Sparse body hair ORPHA:79402
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Hyperostosis Cranialis Interna
Chiari type I malformation, Proptosis OMIM:144755
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hepatic steatosis, Generalized hirsutism ORPHA:363400
Cutis Laxa, Autosomal Recessive, Type Iiia
Short stature, Hypertelorism, Cryptorchidism, Hypotelorism, Scoliosis, Sparse hair, Intrauterine ... OMIM:219150
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Short stature, Proptosis, Hypertelorism OMIM:109120
Desbuquois Dysplasia 2
Severe short stature, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Synophrys, ... OMIM:615777
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Small scrotum, Kyphosis, Cryptorchidism, Hypotelorism, Hyperconvex fingerna... ORPHA:2215
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Developmental And Epileptic Encephalopathy 75
Hypertelorism, Proptosis, Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Short neck, Hypertelorism, Kyphosis, Male pseu... ORPHA:140
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Large for gestational age, Hyperlordosis, Kyphosis, Sparse eyebrow, Hypertelo... OMIM:617011
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Distichiasis, Scoliosis, Delayed puberty ORPHA:2598
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Short stature, Absent pubertal growth spurt, Hypertelorism, Kyphosis, Obesity, Deeply set eye, Sc... ORPHA:464282
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Bilateral cryptorchidism, Synophrys, Thoracic kyphosis, Shallow... OMIM:602535
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Meier-Gorlin Syndrome 7
Short stature, Hypospadias, Cryptorchidism, Growth delay, Chiari type I malformation, Vertebral s... OMIM:617063
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism, Sacral dimple OMIM:273390
Prolidase Deficiency
Hepatomegaly, Abnormal fingernail morphology, Hypertelorism, Splenomegaly, Low anterior hairline,... ORPHA:742
Muenke Syndrome
Proptosis, Low anterior hairline, Hypertelorism OMIM:602849
Congenital Short Bowel Syndrome
Sparse hair, Displacement of the urethral meatus, Short stature ORPHA:2301
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Deeply set eye, Proptosis, Scoliosis OMIM:620351
Frontoocular Syndrome
Proptosis, Hypotelorism OMIM:605321
Atelosteogenesis Type I
Rhizomelia, Hypertelorism, Coronal cleft vertebrae, Platyspondyly, Neonatal short-trunk short sta... ORPHA:1190
Kleefstra Syndrome 2
Growth delay, Kyphosis, Thick eyebrow, Scoliosis OMIM:617768
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Short stature ORPHA:300536
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Growth del... ORPHA:217346
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Disproportionate short stature, ... ORPHA:1427
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... ORPHA:2930
Cole-Carpenter Syndrome
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Proptosis, Scoliosis, Intrauterin... ORPHA:2050
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Thoracic scoliosis, Alopecia, Short stat... ORPHA:2959
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Vertebral fusion, Hyperlordosis, Kyphosis, Scoliosis, Cerebellar cyst OMIM:606612
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Proptosis, Small for gestational age, Increased body weight OMIM:274300
Dysostosis, Stanescu Type
Short stature, Hyperlordosis, Short neck, Kyphosis, Hypertelorism, Proptosis, Scoliosis ORPHA:1798
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis, Penile freckling, Hypertelorism ORPHA:210548
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Short neck, Hypertelorism, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasi... OMIM:235255
Alg1-Cdg
Cerebellar atrophy, Kyphosis, Decreased liver function, Scoliosis ORPHA:79327
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Highly arched eyebrow, Hypertelorism, Kyphosis, Cryptorchidism, Abnor... ORPHA:280
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, A... ORPHA:168569
Aredyld Syndrome
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Scoliosis, Intrauterine growth retardation, ... ORPHA:1133
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Sparse eyebrow, Kyphosis, Hypert... ORPHA:457359
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis OMIM:615761
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis ORPHA:435651
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Precocious puberty, Obesity ORPHA:254525
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short neck, Highly arched eyebrow, Cryptorchidism, Synophrys, Growth delay, Propt... OMIM:615803
Marden-Walker Syndrome
Hypospadias, Short neck, Postnatal growth retardation, Kyphosis, Cryptorchidism, Hypertelorism, M... OMIM:248700
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Abnormal sacroiliac joint m... ORPHA:1807
Premature Aging Syndrome, Penttinen Type
Hypertelorism, Hypotelorism, Retrocerebellar cyst, Proptosis, Scoliosis, Shallow orbits, Sparse h... OMIM:601812
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Gm1-Gangliosidosis, Type Iii
Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Hyperlipidemia, Growth delay, Proptosis, Sparse hair OMIM:608612
Alopecia Antibody Deficiency
Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ... ORPHA:1006
Juvenile Nasopharyngeal Angiofibroma
Proptosis ORPHA:289596
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short stature, Ovoid vertebral... ORPHA:93315
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... OMIM:614582
X-Linked Intellectual Disability Due To Gria3 Mutations
Cerebellar vermis hypoplasia, Short stature, Kyphosis, Cryptorchidism, Retrocerebellar cyst, Deep... ORPHA:364028
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Kyphosis, Scoliosis OMIM:614409
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Spinal rigidi... ORPHA:352447
Lowry-Maclean Syndrome
Hypospadias, Bilateral cryptorchidism, Abnormality of the abdominal organs, Growth delay, Proptos... ORPHA:2409
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Rhizomelia, Hypotelorism, Sparse hair, Abnormal toenail morphology ORPHA:1515
Micro Syndrome
Hypoplasia of penis, Cerebellar vermis hypoplasia, Short stature, Kyphosis, Abnormal cerebellum m... ORPHA:2510
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Hypotelorism, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Short stature, Slow-growing hair, Short neck, Absent eyelashes, Splen... OMIM:115150
Acrocraniofacial Dysostosis
Short stature, Abnormal fingernail morphology, Hypertelorism, Abnormal form of the vertebral bodi... ORPHA:949
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Proptosis ORPHA:352582
Kniest Dysplasia
Rhizomelia, Short neck, Disproportionate short-trunk short stature, Coronal cleft vertebrae, Plat... OMIM:156550
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Genitopalatocardiac Syndrome
Hypospadias, Hypertelorism, Cryptorchidism, Kyphosis, Male pseudohermaphroditism, Abnormal mesent... ORPHA:2075
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Postnat... OMIM:617093
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Short stature, Thick hair, Hypertelorism, Postnatal growth retardation, Coarse hair, Cerebellar h... ORPHA:357074
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Short stature, Lumbar kyphosis, Growth delay, Proptosis, Delayed... OMIM:619234
Machado-Joseph Disease
Cerebellar atrophy, Proptosis, Dilated fourth ventricle OMIM:109150
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Short stature, Thoracolumbar kyphoscoliosis, Short neck, Postnatal growth retardat... OMIM:212066
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Hypertelorism, Scoliosis, Decreased body weight OMIM:300958
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Hypogonadism, Sparse hair, Fail... ORPHA:2316
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Hirsutism OMIM:604367
Blepharocheilodontic Syndrome 1
Hypertelorism, Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Cimdag Syndrome
Hepatomegaly, Cerebellar vermis hypoplasia, Microvesicular hepatic steatosis, Pontocerebellar atr... OMIM:619273
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Short stature, Coronal cleft vertebrae, Platyspondyly, Proptosis, Beaking o... OMIM:215150
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Short stature, Hyperconvex nail, Scoliosis, Sparse hair, Thoracic hemivertebrae, Failure to thrive OMIM:619721
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Trisomy 13
Abnormal eyelash morphology, Kyphosis, Cryptorchidism, Hypotelorism, Deeply set eye, Chiari malfo... ORPHA:3378
Schaaf-Yang Syndrome
Short stature, Failure to thrive in infancy, Kyphosis, Cryptorchidism, Obesity, Hypogonadism, Sco... OMIM:615547
Saul-Wilson Syndrome
Short stature, Postnatal growth retardation, Hypoplasia of the odontoid process, Irregular verteb... OMIM:618150
2Q31.1 Microdeletion Syndrome
Short stature, Short neck, Hypoplastic toenails, Kyphosis, Cryptorchidism, Synophrys, Low anterio... ORPHA:251014
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Severe short stature, Hypospadias, Olivopontocerebellar hypoplasia, Hypoplasi... ORPHA:468631
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Short stature, Obesity, Scoliosis OMIM:618124
Chitayat Syndrome
Proptosis, Short stature, Hypertelorism OMIM:617180
Short Stature With Microcephaly And Distinctive Facies
Sparse scalp hair, Severe short stature, Small for gestational age, Sparse eyebrow, Proptosis, De... OMIM:615789
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis ORPHA:1548
Microcephaly 3, Primary, Autosomal Recessive
Growth delay, Proptosis, Short stature OMIM:604804
Kniest Dysplasia
Short neck, Hypoplasia of the odontoid process, Disproportionate short stature, Disproportionate ... ORPHA:485
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Short stature, Hypospadias, Sparse eyelashes, Postnatal growth retardation, Crypto... OMIM:613026
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive ORPHA:319199
Machado-Joseph Disease Type 1
Cerebellar atrophy, Proptosis, Dilated fourth ventricle ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Proptosis, Dilated fourth ventricle ORPHA:276241
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
2Q32Q33 Microdeletion Syndrome
Short stature, Fine hair, Growth delay, Sparse hair, Decreased testicular size ORPHA:251019
Cole-Carpenter Syndrome 1
Short stature, Proptosis, Scoliosis, Shallow orbits, Vertebral compression fracture OMIM:112240
Baralle-Macken Syndrome
Kyphosis, Obesity, Hirsutism OMIM:619255
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Short stature, Abnormal hair morphology, Hyperlipidemia, Proptosis, Nail dystrophy, Del... ORPHA:90154
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Short stature, Sparse eyelashes, Sparse eyebrow, Growth delay, Propt... OMIM:614008
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypertelorism, Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal f... OMIM:614300
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Hepatomegaly, Postnatal growth retardation, Hyperlipidemia, Growth d... OMIM:248370
Gm1-Gangliosidosis, Type I
Hepatomegaly, Severe short stature, Short neck, Hypertelorism, Kyphosis, Splenomegaly, Hypoplasti... OMIM:230500
Cinca Syndrome
Growth delay, Proptosis, Hepatosplenomegaly OMIM:607115
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Polycystic ovaries, Abnormality o... ORPHA:2348
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Proptosis, Intrauterine grow... ORPHA:525731
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Short stature, Cirrhosis, Sparse hair, Failure to thrive... OMIM:242150
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... OMIM:261680
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Proptosis, Lethal short-limbed sho... ORPHA:1860
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Spinal rigidity, Hyperlordosis... OMIM:613327
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Cryptorchidism, Hypotelorism, Truncal obesity, Deeply set eye, Disproportionate sh... OMIM:616541
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Kyphoscoliosis, Hypertelorism, Sparse eyebrow, Synophrys, Sparse hair OMIM:620075
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Small scrotum, Highly arched eyebrow, Hyperlordosis, Synophrys, Dystrophic toenail, Hyp... ORPHA:3253
Multicentric Carpotarsal Osteolysis Syndrome
Proptosis OMIM:166300
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Short stature OMIM:619985
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Kyphosis, Scoliosis, Short neck OMIM:611890
Spinocerebellar Ataxia Type 3
Proptosis ORPHA:98757
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Hypertelorism, Non-obstruc... ORPHA:432
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Deeply set eye, Proptosis OMIM:618707
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... OMIM:234050
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Micro... ORPHA:98907
Cenani-Lenz Syndrome
Hypertelorism, Abnormal form of the vertebral bodies, Proptosis, Absent fingernail, Scoliosis, Ab... ORPHA:3258
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Chromosome 3Q13.31 Deletion Syndrome
Hypertelorism, Kyphosis, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Scoliosis OMIM:618484
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... OMIM:313400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Muenke Syndrome
Hypopigmentation of hair, Proptosis, Hypertelorism ORPHA:53271
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Anisospondyly, Short neck, Cryptorchidism, Proptosis, Hirsutism ORPHA:1865
Metatropic Dysplasia
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... OMIM:156530
Frontonasal Dysplasia 2
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Sparse eyelashes, Alopecia totalis, ... OMIM:613451
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm ORPHA:50944
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Hyperlordosis, Hypertelorism, ... ORPHA:3068
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Microvesicular hepatic steatosis, Failure to thrive, Cerebellar hypoplasia OMIM:616672
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Deeply set eye, Abdominal obesity, Hypoplasia of the ovary, Intrauterine... OMIM:619321
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Abnormality of the vertebral column, Short stature, Hyperlordosis ORPHA:52430
3C Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Short neck, Postnatal growth retardation, Kyphos... ORPHA:7
Trichothiodystrophy 1, Photosensitive
Brittle hair, Short stature, Small for gestational age, Trichoschisis, Fine hair, Fragile nails, ... OMIM:601675
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... ORPHA:298
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Short stature, Small for gestational age, Kyphoscoli... OMIM:268400
Jackson-Weiss Syndrome
Proptosis, Hypertelorism ORPHA:1540
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Hypoplastic sacrum, Rhizomelia, Small for gestational age, Hypertelorism, Oligozoospermia, Growth... OMIM:614813
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proptosis, Cachexia ORPHA:2774
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Alg9-Cdg
Cerebellar atrophy, Hepatomegaly, Rhizomelia, Short neck, Hypertelorism, Low posterior hairline, ... ORPHA:79328
Baller-Gerold Syndrome
Short stature, Failure to thrive in infancy, Hypertelorism, Hypotelorism, Growth delay, Proptosis... ORPHA:1225
Vascular Malformation, Primary Intraosseous
Proptosis OMIM:606893
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Small for gestational age, Onychauxis, Precocious puberty, Long penis, Clitoral hy... OMIM:262190
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair OMIM:273400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypo... ORPHA:2232
Melnick-Needles Syndrome
Short stature, Hypertelorism, Proptosis, Scoliosis, Anisospondyly ORPHA:2484
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Polycystic ovaries, Cirrhosis, He... ORPHA:79083
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Machado-Joseph Disease Type 3
Cerebellar atrophy, Proptosis, Dilated fourth ventricle ORPHA:276244
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hypertelorism, Hypoplastic labia majora, Chiari malformation, Proptos... OMIM:123790
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Small scrotum, Synophrys, Low anterior hairline, Coarse hair, Micro... OMIM:612289
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Failure to thrive in infancy, Hypertelorism, Precocious pube... ORPHA:819
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Short neck, Hypoplasia of the pons... ORPHA:444072
Developmental And Epileptic Encephalopathy 80
Hypertelorism, Growth delay, Proptosis, Small nail, Failure to thrive OMIM:618580
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, External genital hypoplas... ORPHA:177907
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Short neck, Epispadias, Hemivertebrae, Abnormal form of the vertebral bodies... ORPHA:3107
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... OMIM:619418
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Hyperlipidemia, Proptosis... ORPHA:90153
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Hyperlipidemia, ... ORPHA:247585
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Weight loss... OMIM:619487
Shprintzen-Goldberg Syndrome
Hypertelorism, Cryptorchidism, Abnormal form of the vertebral bodies, Chiari malformation, Propto... ORPHA:2462
Trichorhinophalangeal Syndrome, Type I
Short stature, Thin nail, Slow-growing hair, Hyperlordosis, Concave nail, Leukonychia, Fine hair,... OMIM:190350
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the ver... ORPHA:3098
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Short neck, Precocious puberty, Cryptorchidism, Scoliosis, Labial h... OMIM:620073
De Barsy Syndrome
Cerebellar vermis hypoplasia, Short stature, Kyphoscoliosis, Hypertelorism, Postnatal growth reta... ORPHA:2962
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Short stature, Hypospadias, Hypergonadotropic hypogonadism, Sparse axil... ORPHA:90796
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Kyphosis, Abnormal form of the ver... ORPHA:2635
Noonan Syndrome
Abnormal hair quantity, Hepatomegaly, Hypogonadotropic hypogonadism, Short stature, Hypertelorism... ORPHA:648
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Sh... ORPHA:457395
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Synophrys, Growth delay, Deeply set eye, Gonadal dysgenesis, ... ORPHA:3306
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Decreased liver function, Hepatic steatosis ORPHA:42
Fibrochondrogenesis
Short stature, Hypertelorism, Short neck, Abnormal form of the vertebral bodies, Proptosis, Hypop... ORPHA:2021
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Short stature, Slow-growing hair, Highly arched eyebrow, Short neck, Hypertelorism, C... OMIM:617506
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Radio-Tartaglia Syndrome
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Precocious puberty, Hypertelorism, Synophrys... OMIM:619312
Diastrophic Dysplasia
Hypertelorism, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Intrau... ORPHA:628
Apert Syndrome
Hypertelorism, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm, Vertebral segmentation defect, ... ORPHA:87
Subaortic Stenosis-Short Stature Syndrome
Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Scoliosis ORPHA:3191
Robinow Syndrome
Fused thoracic vertebrae, Small scrotum, Short stature, External genital hypoplasia, Kyphoscolios... ORPHA:97360
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short stature, Short neck, Hypertelorism, Kyphosis, Cryptorchidism, Clitoral hypop... OMIM:616894
Marshall Syndrome
Sparse eyelashes, Short stature, Hypertelorism, Sparse eyebrow, Proptosis, Sparse hair ORPHA:560
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short stature, Short neck, Cryptorchidism, Kyphosis, Obesity, Hypogonadism ORPHA:3409
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Hypertelorism, Asplenia, Kyphosis, Cryptorchidism, Hypotelorism, Ab... OMIM:619123
Trisomy 9P
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Hypertelorism, Deeply set eye, Fingern... ORPHA:236
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Hypertrichosis OMIM:614898
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Short stature, Hyperlordosis, Sc... OMIM:615356
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Short stature, Kyphoscoliosis, Hypertelorism, Cryptorchidism, Proptosis, Micropenis OMIM:616331
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
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... ORPHA:228426
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Hyperconvex fingernails, Accessory spleen, Vertebral fusio... OMIM:194190
Trichorhinophalangeal Syndrome Type 1
Short stature, Sparse eyelashes, Hyperlordosis, Sparse eyebrow, Leukonychia, Scoliosis, Sparse ha... ORPHA:77258
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Rapp-Hodgkin Syndrome
Short stature, Hypospadias, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Slow-growing ... OMIM:129400
Wiedemann-Rautenstrauch Syndrome
Short neck, Hypotelorism, Deeply set eye, Dandy-Walker malformation, Absent eyebrow, Alopecia, Sh... OMIM:264090
Distal Deletion 9P
Hypospadias, Hypertelorism, Short neck, Hypoplastic labia majora, Proptosis ORPHA:1642
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy, Severe short stature, Hypospadias, Kyphoscoliosis, Proptosis, Intrauterine gr... OMIM:210730
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Scarf Syndrome
Bifid scrotum, Short neck, Cryptorchidism, Hepatocellular adenoma, Abnormal form of the vertebral... ORPHA:3134
Slc35A2-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, P... ORPHA:356961
Alpha-Mannosidosis
Hepatomegaly, Short neck, Hypertelorism, Kyphosis, Splenomegaly, Scoliosis ORPHA:61
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfera... OMIM:256810
20Q11.2 Microduplication Syndrome
Bifid scrotum, Sacral dimple, Cryptorchidism, Growth delay, Proptosis, Severe intrauterine growth... ORPHA:363659
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Abnormal cerebellum morphology, Weight l... ORPHA:35687
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Beta-alaninuria, Sparse hair, Hypertelorism OMIM:614105
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Hypertelorism, Large for gestational age OMIM:618272
Noonan Syndrome 14
Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Hypertelorism, L... OMIM:619745
Cartilage-Hair Hypoplasia
Lumbar hyperlordosis, Sparse facial hair, Absent pubertal growth spurt, Sparse eyelashes, Fair ha... OMIM:250250
Harrod Syndrome
Hypospadias, Cryptorchidism, Kyphosis, Hypotelorism, Scoliosis, Intrauterine growth retardation, ... ORPHA:2115
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive, Scoliosis ORPHA:293181
Crouzon Syndrome
Hypertelorism, Proptosis, Shallow orbits, Abnormality of the cervical spine, Dysgerminoma OMIM:123500
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Short stature ORPHA:977
Rubinstein-Taybi Syndrome 1
Premature thelarche, Bilateral cryptorchidism, Low anterior hairline, Papillary cystadenoma of th... OMIM:180849
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis OMIM:112350
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Ambiguous genitalia, Short stature, Rhizomelia, Hypospadias, Short neck, Hyp... ORPHA:818
Cinca Syndrome
Growth delay, Hepatomegaly, Proptosis, Splenomegaly ORPHA:1451
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:1858
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Elevated hepatic transaminase, Bile duct proliferation, Cerebellar hypoplasia... OMIM:618329
Flynn-Aird Syndrome
Alopecia, Kyphosis, Cachexia, Scoliosis ORPHA:2047
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Short stature, Cachexia, Failure to thrive i... ORPHA:813
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypertelorism, Cryptorchidism, Chiari type I malformation, Proptosis, C1-C2 vertebral abnormality... OMIM:182212
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Hypertelorism, Cryptorchidism, Abnormality of the pancreas, Proptosis, Prominent s... ORPHA:1555
Sialidosis Type 2
Splenomegaly, Kyphosis, Short stature, Hepatomegaly ORPHA:87876
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Thoracic scoliosis, Spinal rigidity, Short neck, Synophrys, Deeply set eye, Proptos... OMIM:620369
Bohring-Opitz Syndrome
Short stature, Hypertelorism, Synophrys, Proptosis, Severe failure to thrive, Intrauterine growth... ORPHA:97297
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... ORPHA:101330
Macs Syndrome
Alopecia, Hypergonadotropic hypogonadism, Short stature, Sparse eyebrow, Cryptorchidism, Scoliosi... OMIM:613075
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accum... OMIM:261515
8P Inverted Duplication/Deletion Syndrome
Frontal balding, Short neck, Precocious puberty, Cryptorchidism, Synophrys, Hypertelorism, Cerebe... ORPHA:96092
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:435660
Short Syndrome
Alopecia, Severe short stature, Hypertelorism, Weight loss, Deeply set eye, Sparse hair ORPHA:3163
Multicentric Osteolysis, Nodulosis, And Arthropathy
Short stature, Kyphoscoliosis, Hypertelorism, Proptosis, Vertebral compression fracture, C1-C2 su... OMIM:259600
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis OMIM:252605
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Kyp... OMIM:300280
Braddock-Carey Syndrome 1
Growth delay, Curly hair, Sparse hair, Hyperlordosis OMIM:619980
Loeys-Dietz Syndrome 5
Short stature, Failure to thrive in infancy, Kyphoscoliosis, Hypertelorism, Cervical spine instab... OMIM:615582
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Alopecia, Short stature, Isosexual precocious puberty, Prem... ORPHA:90795
Sjögren-Larsson Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:816
3-Methylglutaconic Aciduria Type 7
Growth delay, Cerebellar atrophy, Hepatic steatosis, Elevated hepatic transaminase ORPHA:445038
Axenfeld-Rieger Syndrome, Type 3
Cerebellar vermis hypoplasia, Proptosis, Hypertelorism OMIM:602482
Cockayne Syndrome B
Hepatomegaly, Dry hair, Severe short stature, Small for gestational age, Cerebellar calcification... OMIM:133540
Houge-Janssens Syndrome 3
Proptosis, Hypertelorism OMIM:618354
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Hyperlordosis, Kyphosis, Splenomegaly, Abnormality of the vertebral colum... ORPHA:1328
Menkes Disease
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation OMIM:309400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipide... ORPHA:189427
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Cardiofaciocutaneous Syndrome
Brittle hair, Short stature, Failure to thrive in infancy, Slow-growing hair, Short neck, Abnorma... ORPHA:1340
Fibrochondrogenesis 1
Hypoplastic fingernail, Rhizomelia, Short neck, Hypoplastic toenails, Platyspondyly, Proptosis, P... OMIM:228520
Osteoglophonic Dysplasia
Severe short stature, Rhizomelia, Hypospadias, Short neck, Hypoplastic toenails, Cryptorchidism, ... OMIM:166250
Restrictive Dermopathy 2
Intrauterine growth retardation, Proptosis OMIM:619793
Autosomal Recessive Robinow Syndrome
Sacral dimple, Hypoplasia of penis, Alopecia, Short neck, Hypertelorism, Kyphosis, Cryptorchidism... ORPHA:1507
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis OMIM:201475
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Abnormal morphology of female internal genitalia, Fine hair ORPHA:1839
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair, Proptosis, Vertebral arch anomaly ORPHA:85184
Kosaki Overgrowth Syndrome
Xanthelasma, Proptosis, Thoracolumbar scoliosis, Scoliosis OMIM:616592
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Postnatal growt... OMIM:619127
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Proptosis, Hypertelorism ORPHA:2165
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Hypoplastic sacrum, Short stature, Thoracolumbar scoliosis, Short neck, Hyperte... OMIM:268310
Frank-Ter Haar Syndrome
Hypertelorism, Kyphosis, Deeply set eye, Scoliosis, Beaking of vertebral bodies ORPHA:137834
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Postnatal growth retardation, ... ORPHA:536467
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, ... OMIM:253220
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Cholangitis, M... OMIM:124000
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Incontinentia Pigmenti
Ridged nail, Alopecia, Short stature, Kyphoscoliosis, Supernumerary nipple, Hemivertebrae, Nail p... OMIM:308300
Ruvalcaba Syndrome
Short stature, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty OMIM:180870
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia, Hepati... ORPHA:412
Apert Syndrome
Hypertelorism, Cryptorchidism, Cervical C5/C6 vertebrae fusion, Chiari type I malformation, Rhizo... OMIM:101200
Gm1 Gangliosidosis
Short stature, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Weig... ORPHA:354
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Increased circ... ORPHA:71212
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Sacral dimple, Hypospadias, Hypertelorism, Epispadias, ... ORPHA:2211
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Short stature, Scoliosis, Sparse lateral eyebrow OMIM:190351
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hyperlordosis ORPHA:369840
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Cerebellar vermis hypoplasia, Kyphosis, Cerebellar hypoplasia, Scoliosis, Spina bi... OMIM:618291
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Proptosis OMIM:617895
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Sparse eyelashes,... OMIM:210710
Bone Marrow Failure Syndrome 3
Short stature, Hypertelorism, Pancreatic steatosis, Cryptorchidism, Deeply set eye, Nail dystroph... OMIM:617052
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Hennekam-Beemer Syndrome
Failure to thrive, Short stature, Proptosis, Scoliosis ORPHA:2135
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short stature, Cachexia, Short neck, Abnormal hair pattern, Kyphosis, Synoph... ORPHA:85293
Cockayne Syndrome A
Cerebellar atrophy, Hepatomegaly, Dry hair, Short stature, Kyphosis, Cryptorchidism, Splenomegaly... OMIM:216400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Short stature, Short neck, Hypertelorism, Low posterior hairline, Platyspondyly, Prop... OMIM:245600
Lateral Meningocele Syndrome
Vertebral fusion, Short stature, Short neck, Hypertelorism, Kyphosis, Cryptorchidism, Chiari type... OMIM:130720
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Hepatic steatosis, Small scrotum, Short stature, Small for gestati... OMIM:613658
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth ret... ORPHA:2457
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Mild short stature, Scoliosis OMIM:130060
Pfeiffer Syndrome Type 2
Chiari malformation, Proptosis, Hypertelorism ORPHA:93259
Cornelia De Lange Syndrome 1
Short stature, Hypospadias, Curly eyelashes, Short neck, Highly arched eyebrow, Cryptorchidism, S... OMIM:122470
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Hepatic necrosis, Premature graying of hair, Cerebellar hypopla... OMIM:127550
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas... ORPHA:398079
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short stature, Hypospadias, Short neck, Kyphosis, Crypto... ORPHA:2311
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Short stature, Retroperitoneal fibrosis, Splenomega... OMIM:602782
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Congenital kyphoscoliosis, Short stature, Kyphoscoliosis, Hypertelorism, Crypt... ORPHA:536471
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... OMIM:614921
Arthrogryposis, Distal, Type 5
Kyphosis, Short stature, Deeply set eye, Scoliosis OMIM:108145
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Short stature, Kyphoscoliosis, Hypertelorism, Sparse eyebrow, Kyphosis, Cryptorchidi... ORPHA:3063
Myopathy, Centronuclear, 2
Kyphosis, Intrauterine growth retardation, Scoliosis, Hyperlordosis OMIM:255200
Weaver Syndrome
Deep-set nails, Thin nail, Hypertelorism, Kyphosis, Cryptorchidism, Fine hair, Hydrocele testis, ... OMIM:277590
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Rhizomelia, Growth delay, Intrauterine growth retardation, Hepatic steatosis OMIM:616271
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Short stature, Dis... ORPHA:1775
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:2088
Craniosynostosis 4
Chiari type I malformation, Proptosis, Hypertelorism OMIM:600775
Emanuel Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Deeply set eye, Scoliosis, Intrauterine growth retardati... OMIM:609029
Atelosteogenesis, Type I
Rhizomelia, Short neck, Thoracic platyspondyly, Cryptorchidism, Hypertelorism, Fused cervical ver... OMIM:108720
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hypertelorism, Precocious puberty, Obesity, Cerebellar vermis atrophy ORPHA:163681
Jackson-Weiss Syndrome
Proptosis OMIM:123150
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Proptosis, Deeply set eye, Intrauterine growth retardation OMIM:616914
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Dandy-Walker mal... ORPHA:228305
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Cryptorchidism, S... OMIM:613563
Marbach-Rustad Progeroid Syndrome
Short stature, Growth delay, Proptosis, Shallow orbits, Intrauterine growth retardation OMIM:619322
Osteogenesis Imperfecta, Type Viii
Kyphosis, Platyspondyly, Proptosis, Disproportionate short-limb short stature, Scoliosis, Vertebr... OMIM:610915
Fountain Syndrome
Short stature, Hypertelorism, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scolios... ORPHA:3219
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Generalized aminoaciduria, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Growth delay, Nail dystrophy, Failure to thrive, Sparse hair ORPHA:98813
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, External genital hypoplasia, Short neck, Postnatal growth retardation, Cryp... ORPHA:251028
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis OMIM:259440
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Short stature, Hypospadias, Cryptorchidism, Proptosis, Cerebellar hypoplasia,... ORPHA:163979
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hypertelorism, Kyphosis, Scoliosis, Sparse hair, Clitoral hypertrophy OMIM:616449
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Streak ovary, Hypospadias, Failure to thrive in infancy, Kyphoscoliosis,... ORPHA:798
Chromosome Xp11.23-P11.22 Duplication Syndrome
Medial flaring of the eyebrow, Precocious puberty, Synophrys, Low posterior hairline, Thick eyebrow OMIM:300801
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Hypertelorism, Abnor... ORPHA:2710
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Highly arched eyebrow, Short neck, Hypertelorism, Hepatosplenomegaly, Platysp... ORPHA:309282
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Short stature, Kyphosis, Hemivertebrae, Abnormal form of the ve... ORPHA:2916
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Postnatal growth retardation, Sparse scalp hair, Proptosis, Shallow orbits OMIM:620029
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Failure to thrive ORPHA:536516
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Sparse eyebrow, Kyphosis, Fine hair, Growth delay, Hypogonadism, Cerebellar... ORPHA:261349
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, Ge... ORPHA:3121
Monosomy 13Q34
Hypertelorism, Obesity, Growth delay, Horizontal eyebrow, Hepatic steatosis ORPHA:96168
Dural Sinus Malformation
Abnormal cerebellum morphology, Proptosis ORPHA:97339
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorc... OMIM:300200
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Small for gestational age, Hypotelorism, Growth delay, Deeply set eye,... OMIM:614114
46,Xy Sex Reversal 6
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... OMIM:613762
Revesz Syndrome
Nail pits, Fine hair, Cerebellar hypoplasia, Nail dystrophy, Sparse hair, Intrauterine growth ret... OMIM:268130
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Proptosis, Rhizomelia ORPHA:440354
Becker Nevus Syndrome
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... ORPHA:64755
Acrocardiofacial Syndrome
Hypoplasia of penis, Hypospadias, Hypertelorism, Cryptorchidism, Proptosis, Long eyelashes, Intra... ORPHA:2008
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, Synophrys, Abnormal curvature of the vertebral column, Deeply set eye, ... OMIM:619475
Pfeiffer Syndrome Type 3
Chiari malformation, Proptosis, Hypertelorism ORPHA:93260
Robinow Syndrome, Autosomal Recessive 2
Long eyelashes, Short stature, Proptosis, Hypertelorism OMIM:618529
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Small scrotum, Short stature, External genital hypoplasia, Precocious p... ORPHA:398069
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Chiari type I malformation, Hypocholesterolemia, Micropenis, Hepati... OMIM:270400
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Severe short stature, Increased intervertebral spac... ORPHA:93314
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent... ORPHA:444490
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Hypertelorism, Posterior wedging of vertebral bodies, Coarse hair, S... ORPHA:50814
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Hypospadias, Short stature, Abnormal fingernail morphology, Highly arched eyebrow, Hy... ORPHA:444077
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Adams-Oliver Syndrome
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Absent ... ORPHA:974
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Obesity, Scoliosis OMIM:300602
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Highly arched eyebrow, Disproportionate short-limb short stature, Sparse hair, In... OMIM:618644
Roberts Syndrome
Short neck, Postnatal growth retardation, Cryptorchidism, Hypertelorism, Long penis, Proptosis, S... ORPHA:3103
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Growth delay, Proptosis, Failure to thrive ORPHA:3339
Pelger-Huet Anomaly
Kyphosis, Failure to thrive, Mild short stature, Hypertelorism OMIM:169400
Whipple Disease
Splenomegaly, Hepatomegaly, Proptosis, Cachexia ORPHA:3452
Degcags Syndrome
Synophrys, Low anterior hairline, Hypotelorism, Premature graying of hair, Hepatomegaly, Hypospad... OMIM:619488
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Bloom Syndrome
Small for gestational age, Postnatal growth retardation, Cryptorchidism, Growth delay, Azoospermi... OMIM:210900
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Short stature, Small for gestational age, Thin nail, Growth delay, Deeply set... OMIM:617799
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Scoliosis ORPHA:457260
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Abnormality of the vertebral spinous... ORPHA:909
Trisomy 20P
Hypospadias, Thick hair, Highly arched eyebrow, Short neck, Hypertelorism, Kyphosis, Cryptorchidi... ORPHA:261318
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hypertelorism, ... OMIM:252500
Sialidosis Type 1
Short stature, Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Aminoaciduria, Scol... ORPHA:812
Distal Triplication 15Q
Abnormal external genitalia, Large for gestational age, Hypertelorism, Kyphosis, Hydrocele testis... ORPHA:314588
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Ovarian cys... OMIM:610475
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Sparse scalp hair, Severe short stature, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Shor... OMIM:271640
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Short stature, Scoliosis, Hypertelorism ORPHA:79107
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Growth delay, Hypoplasti... OMIM:230740
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Kyphosis, Splenomegaly, Growth delay, Scoliosis, Hirsutism OMIM:607015
Ogden Syndrome
Short stature, Short neck, Postnatal growth retardation, Cryptorchidism, Sparse eyebrow, Jaundice... OMIM:300855
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Hepatic st... ORPHA:79086
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Hypertelorism, Kyphosis, Synophrys, Low anterior hairline, Frontal upsweep of hair... OMIM:617061
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair ORPHA:69735
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Hypospadias, Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Aplasia/Hyp... OMIM:614091
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Hypoplastic thumbnail, Precocious puberty, Hypoplastic toenails, Hypoplastic fifth fingernail, Ab... OMIM:619356
Bruck Syndrome 1
Short stature, Kyphosis, Vertebral wedging, Platyspondyly, Scoliosis OMIM:259450
Kaufman Oculocerebrofacial Syndrome
Short stature, Ovoid vertebral bodies, Hypertelorism, Sparse eyebrow, Hypoplastic labia majora, H... OMIM:244450
White-Sutton Syndrome
Short stature, Short neck, Hypertelorism, Obesity, Sparse hair, Intrauterine growth retardation, ... OMIM:616364
Keppen-Lubinsky Syndrome
Postnatal growth retardation, Proptosis, Scoliosis, Shallow orbits, Failure to thrive, Decreased ... ORPHA:435628
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Short neck, Splenomegaly, Synophrys, Low anterior hairline, Low posterior hairline,... OMIM:617303
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Short stature, Large for gestational age, Short neck, Cryptorchidi... OMIM:607721
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Small scrotum, Short stature, External genital hypoplasia, Hypogonadotr... ORPHA:98754
Scarf Syndrome
Bifid scrotum, Short neck, Cryptorchidism, Low anterior hairline, Abnormal form of the vertebral ... OMIM:312830
Prader-Willi Syndrome
Hypopigmentation of hair, Small scrotum, Short stature, Hypogonadotropic hypogonadism, External g... OMIM:176270
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Short neck, Absent eyelashes, Cryptorchidism, Sparse eye... OMIM:608156
Hawkinsinuria
Hypertyrosinemia, Failure to thrive, Sparse hair OMIM:140350
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Sclerosteosis 1
Sclerotic vertebral endplates, Proptosis, Nail dysplasia, Hypertelorism OMIM:269500
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Thin fingernail, Hypospadias, Absent eyelashes, Kyphosis, Proptosis ORPHA:85199
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Sparse scalp hair, Short stature, Hypertelorism, Proptosis, Scoliosis, Failure to thrive OMIM:130070
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Anonychi... OMIM:106260
Fanconi Anemia
Short stature, Hypospadias, Abnormal preputium morphology, Hypertelorism, Cryptorchidism, Weight ... ORPHA:84
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Cutis Laxa, Autosomal Recessive, Type Iiib
Hypertelorism, Cryptorchidism, Fine hair, Deeply set eye, Sparse hair, Intrauterine growth retard... OMIM:614438
Hajdu-Cheney Syndrome
Hepatomegaly, Short stature, Hypospadias, Abnormal fingernail morphology, Short neck, Hypoplastic... ORPHA:955
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Branchioskeletogenital Syndrome
Abnormality of the vertebral spinous processes, Absent nipple, Thoracolumbar kyphoscoliosis, High... ORPHA:1299
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Sparse eyelashes, Fine hair, Deeply set eye, Sparse hair, Failure to thrive OMIM:257850
Arthrogryposis, Distal, Type 4
Kyphosis, Low anterior hairline, Low posterior hairline, Hypoplastic labia majora, Lumbar scolios... OMIM:609128
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Hypospadias, Short stature, Kyphosis, Cryptorchidism, Deeply set e... OMIM:617602
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Hypertelorism, Coarse hair, Proptosis, ... OMIM:309350
Cono-Spondylar Dysplasia
Short nail, Short neck, Hypertelorism, Kyphosis, Scoliosis, Failure to thrive ORPHA:420794
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hyp... OMIM:619991
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Yunis-Varon Syndrome
Sparse scalp hair, Short stature, Hypospadias, Sparse eyelashes, Hypertelorism, Postnatal growth ... ORPHA:3472
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Microvesicular hepatic steatosis, Jaundice, Chol... OMIM:617156
Donnai-Barrow Syndrome
Bicornuate uterus, Proptosis, Hypertelorism OMIM:222448
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Kyphosis, Scoliosis ORPHA:702
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Small scrotum, Short stature, External genital hypoplasia, Hypogonadotr... ORPHA:98793
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesi... OMIM:203700
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Fair hair, Short stature, Small for gestational age, Abnormality... OMIM:610443
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Obesity, S... ORPHA:98863
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Wieacker-Wolff Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis, High anterior hairline OMIM:314580
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis ORPHA:98855
Kleefstra Syndrome Due To A Point Mutation
Short stature, Large for gestational age, Precocious puberty, Cerebellar hypoplasia, Failure to t... ORPHA:261652
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Small scrotum, Short stature, External genital hypoplasia, Hypogonadotr... ORPHA:177904
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Short stature, Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the ver... ORPHA:93360
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Nail dystrophy... OMIM:612199
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Proptosis, Hypertelorism OMIM:156400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Small scrotum, Short stature, External genital hypoplasia, Hypogonadotr... ORPHA:177901
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... ORPHA:2108
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... OMIM:614941
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis... ORPHA:15
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Growth delay, Proptosis, Hepatic f... OMIM:259720
Kid Syndrome
Cerebellar vermis hypoplasia, Sparse eyelashes, Postnatal growth retardation, Scarring alopecia o... ORPHA:477
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Splenomegaly, Generalized hirsutism, Polycystic... ORPHA:280365
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... ORPHA:140936
Smith-Mccort Dysplasia 1
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Hypertelorism, Kyphosis, Growth delay, ... OMIM:249420
Localized Scleroderma
Deeply set eye, Abnormal skin adnexa morphology, Patchy alopecia, Proptosis ORPHA:90289
Pseudoaminopterin Syndrome
Sparse scalp hair, Short stature, Highly arched eyebrow, Hypertelorism, Asplenia, Cryptorchidism,... ORPHA:221120
15Q14 Microdeletion Syndrome
Kyphosis, Short stature, Deeply set eye, Scoliosis ORPHA:261190
Wieacker-Wolff Syndrome, Female-Restricted
Short stature, Short neck, Kyphosis, Deeply set eye, Scoliosis OMIM:301041
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair, Moderate postnatal growth retardation, Scoliosis OMIM:118650
Mgat2-Cdg
Hypertelorism, Kyphosis, Long eyelashes, Cerebellar hypoplasia, Scoliosis, Hypoplastic nipples, F... ORPHA:79329
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:212138
Wiedemann-Rautenstrauch Syndrome
Synophrys, Wide penis, Hypoplastic vertebral bodies, Chiari type I malformation, Deeply set eye, ... ORPHA:3455
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Chiari type I malformation, Platyspondyly, Long eyelashes, Ce... OMIM:618476
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Sparse axillary... OMIM:256040
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
Camurati-Engelmann Disease
Proptosis, Slender build, Scoliosis, Delayed puberty OMIM:131300
3M Syndrome
Short stature, Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scol... ORPHA:2616
Mullegama-Klein-Martinez Syndrome
Short stature, Curly eyelashes, Low anterior hairline, Proptosis, Scoliosis, High anterior hairli... OMIM:301022
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Rhizomelia... ORPHA:175
Cohen Syndrome
Short stature, Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Kyphosis, C... ORPHA:193
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Hypertelorism, Cryptorchidism, Posterior wedging of vertebral bodies... OMIM:607812
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Hypertelorism OMIM:619877
Lamellar Ichthyosis
Sparse hair, Short stature, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Atypical Werner Syndrome
Abnormal hair quantity, Decreased body weight, Hypertriglyceridemia, Short stature, Failure to th... ORPHA:79474
Rodrigues Blindness
Sparse hair, Short stature, Fine hair OMIM:268320
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Short stature, Hepatocellular carcinoma, Hyperlipidemia, Hepa... ORPHA:79259
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hypercholest... ORPHA:247598
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Kyphoscoliosis, Precocious puberty, Growth delay, Intrauterine growth ... ORPHA:447980
Fetal Akinesia Deformation Sequence 1
Small for gestational age, Short neck, Hypertelorism, Cryptorchidism, Proptosis, Cerebellar hypop... OMIM:208150
Dystonia 28
Precocious puberty, Short stature ORPHA:589618
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cerebellar vermis hypoplasia, Hyperlipidemia, Hepatic calcification, Hepatic failur... ORPHA:228308
Wyburn-Mason Syndrome
Proptosis ORPHA:53719
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Sparse medial eyebrow, Cryptorchidism... OMIM:601358
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis ORPHA:98853
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Antley-Bixler Syndrome
Proptosis, Hypertelorism ORPHA:83
Ollier Disease
Precocious puberty, Platyspondyly ORPHA:296
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Large for gestational age, Short neck, Microvesicular hepatic steatosis, Hypertelor... OMIM:300868
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Short stature, Hypospadias, Kyphosis, Cryptorch... ORPHA:1606
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Proptosis, Vaginal atresia, Fused labia minora OMIM:207410
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair, Scoliosis OMIM:619910
Catel-Manzke Syndrome
Short neck, Postnatal growth retardation, Cryptorchidism, Hypertelorism, Proptosis, Scoliosis, Th... OMIM:616145
Coffin-Lowry Syndrome
Short stature, Hypertelorism, Kyphosis, Abnormal form of the vertebral bodies, Hyperconvex finger... ORPHA:192
Cockayne Syndrome Type 2
Hepatomegaly, Cryptorchidism, Kyphosis, Scoliosis, Male hypogonadism, Intrauterine growth retarda... ORPHA:90322
Atypical Rett Syndrome
Growth delay, Kyphosis, Scoliosis ORPHA:3095
Orofaciodigital Syndrome I
Dry hair, Alopecia, Short stature, Hypertelorism, Pancreatic cysts, Ovarian cyst, Hepatic fibrosi... OMIM:311200
9P13 Microdeletion Syndrome
Short stature, External genital hypoplasia, Highly arched eyebrow, Hyperconvex nail, Precocious p... ORPHA:324313
Bruck Syndrome
Kyphosis, Platyspondyly, Short stature, Scoliosis ORPHA:2771
Fucosidosis
Hepatomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar vertebrae, Fai... ORPHA:349
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Woolly hai... OMIM:619244
Opitz-Kaveggia Syndrome
Sacral dimple, Lumbar hyperlordosis, Short stature, Hypospadias, Short neck, Hypertelorism, Crypt... OMIM:305450
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Short stature, Kyphoscoliosis, Precocious puberty, Growth delay OMIM:163200
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concent... OMIM:617253
Basilicata-Akhtar Syndrome
Precocious puberty, Deeply set eye, Short neck OMIM:301032
Hurler Syndrome
Hepatomegaly, Short stature, Short neck, Hypertelorism, Hypoplasia of the odontoid process, Kypho... OMIM:607014
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Labial pseudohypertrophy, Polycystic ovar... OMIM:151660
Hallermann-Streiff Syndrome
Sparse scalp hair, Small for gestational age, Sparse eyelashes, Proportionate short stature, Hype... OMIM:234100
Meningioma
Back pain, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Abnormal cerebell... ORPHA:2495
Raine Syndrome
Short stature, Highly arched eyebrow, Hypertelorism, Short neck, Proptosis OMIM:259775
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Small for gestational age, Nodul... ORPHA:404454
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Proptosis, Small for gestational age, Weight loss ORPHA:424
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Severe short stature, Abnormal intervertebral disk morphology, Alo... ORPHA:2636
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Aminoaciduria, Diffuse hepatic steatosis, Decreased liver function ORPHA:436271
Hypomandibular Faciocranial Dysostosis
Abnormal morphology of female internal genitalia, Proptosis ORPHA:1790
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Hypertelorism, Kyphosis, Hemivertebrae,... ORPHA:2062
Pfeiffer Syndrome Type 1
Proptosis, Hypertelorism ORPHA:93258
Prader-Willi Syndrome
Hypopigmentation of hair, Small scrotum, Short stature, External genital hypoplasia, Precocious p... ORPHA:739
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Splenomegaly, Fine hair, Truncal obesity, Aminoaciduria, Hyperlysinu... OMIM:222700
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build OMIM:254090
Myhre Syndrome
Vertebral fusion, Short stature, Small for gestational age, Short neck, Hypertelorism, Cryptorchi... OMIM:139210
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Kyphosis, Scoliosis ORPHA:88644
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase ORPHA:99901
Neurofibromatosis Type 1
Abnormal hair quantity, Short stature, Precocious puberty, Cryptorchidism, Kyphosis, Proptosis, S... ORPHA:636
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Cachexia, Hy... ORPHA:275761
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Supernumerary nipple, Hypertelorism, Kyphosis, Cryptorchidism, Scoliosis, ... OMIM:619951
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Severe short stature, Thin fingernail, Abnormal eyelash morphology, Kyp... ORPHA:2273
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Disproportionate short-trunk short st... ORPHA:583
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... ORPHA:66634
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Short stature, Hypospadias, Abnormality of hair textu... ORPHA:96169
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... ORPHA:98908
Okamoto Syndrome
Bifid uterus, Hypertelorism, Splenomegaly, Extension of hair growth on temples to lateral eyebrow... ORPHA:2729
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Hypertelorism, Postnatal growth retardation, Kyphosis, Cryptorchidis... OMIM:301040
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Severe short stature, Short stature, Short neck, Kyphosis, Splenomegaly, Hepatosple... OMIM:309900
Teebi-Shaltout Syndrome
Short stature, Slow-growing hair, Highly arched eyebrow, Hypertelorism, Low anterior hairline, Sp... OMIM:272950
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Low anterior hairline, Obesity ORPHA:261222
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Proptosis ORPHA:563612
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Kyphoscoliosis, Hepatic fibrosis,... ORPHA:14
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Orofaciodigital Syndrome Type 4
Severe short stature, Monorchism, Hypertelorism, Hypoplastic toenails, Perineal fistula, Growth d... ORPHA:2753
Carpenter Syndrome 1
Sacral dimple, Short stature, External genital hypoplasia, Short neck, Precocious puberty, Crypto... OMIM:201000
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Overweight, Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis, Failure... ORPHA:500055
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, A... ORPHA:99413
Mosaic Monosomy X
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, A... ORPHA:99228
Monosomy X
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, A... ORPHA:99226
Turner Syndrome
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, A... ORPHA:881
Wrinkly Skin Syndrome
Cerebellar vermis hypoplasia, Short stature, Kyphoscoliosis, Hypertelorism, Postnatal growth reta... ORPHA:2834
Stickler Syndrome
Short stature, Cachexia, Hypertelorism, Kyphosis, Spinal canal stenosis, Abnormal form of the ver... ORPHA:828
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Cryptorchidism, Decreased circulating cortisol level, Failure to thrive OMIM:614736
Arima Syndrome
Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... OMIM:243910
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema, Sparse hair, Failure to thrive OMIM:615934
Megalocornea-Intellectual Disability Syndrome
Short stature, Hypertelorism, Kyphosis, Scoliosis, Hypercholesterolemia ORPHA:2479
Phosphoribosylpyrophosphate Synthetase Superactivity
Small for gestational age, Short stature, Hypospadias, Cryptorchidism, Hypotelorism, Sparse hair OMIM:300661
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Hypospadias, Short stature, Hypertelorism, Cryptorchidism, Hemivertebrae, Chor... OMIM:151050
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormality of female external genitalia, Precocious puberty, Disproportionate short stature, Fin... ORPHA:2637
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Disproportiona... OMIM:177170
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Clitoral hypertrophy, Hypertriglyceridemia, Acute pa... OMIM:608594
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Intrauterine growth retardation, Hepatic steatosis, Deeply set eye OMIM:619934
Meester-Loeys Syndrome
Short stature, Hypertelorism, Cervical spine instability, Proptosis, Hypertrichosis OMIM:300989
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Hypertelorism, Kyphosis, Scoliosis, Failure to thrive, Hypertrichosis OMIM:618050
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebrae, Absent fingernail, Microp... OMIM:216340
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Small for gestational age,... OMIM:619869
Aicardi Syndrome
Cerebellar vermis hypoplasia, Block vertebrae, Postnatal growth retardation, Precocious puberty, ... OMIM:304050
Marden-Walker Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, Kyphosis, Epispadias, Abnormal form... ORPHA:2461
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Short stature, Fine hair ORPHA:1806
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:348
Costello Syndrome
Deep-set nails, Curly hair, Short stature, Thin nail, Short neck, Concave nail, Hypertelorism, Ch... OMIM:218040
Cowden Syndrome 1
Dysplastic gangliocytoma of the cerebellum, Kyphosis, Hydrocele testis, Ovarian cyst, Ovarian car... OMIM:158350
Neu-Laxova Syndrome 1
Bifid uterus, Short neck, Cryptorchidism, Absent eyelashes, Hypertelorism, Proptosis, Cerebellar ... OMIM:256520
Hamamy Syndrome
Sparse eyelashes, Hypertelorism, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse h... OMIM:611174
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Highly arched eyebrow, Cryptorchidism, Kyphosis, Long eyelashes, Scoliosis, Decreas... OMIM:619005
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Waldenström Macroglobulinemia
Splenomegaly, Hepatomegaly, Proptosis ORPHA:33226
Woodhouse-Sakati Syndrome
Alopecia, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallop... OMIM:241080
Rabson-Mendenhall Syndrome
Enlarged ovaries, Short stature, Thick hair, Onychauxis, Precocious puberty, Long penis, Low ante... ORPHA:769
Osteogenesis Imperfecta, Type Iii
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona... OMIM:259420
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Intrauterine growth retar... OMIM:615846
Keppen-Lubinsky Syndrome
Failure to thrive, Proptosis, Scoliosis, Shallow orbits OMIM:614098
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Failure to thrive, Hirsutism, Cerebellar cortical atrophy ORPHA:521426
Hyperthyroidism, Nonautoimmune
Proptosis, Small for gestational age OMIM:609152
Cranioectodermal Dysplasia 3
Rhizomelia, Short nail, Short stature, Broad nail, Fine hair, Cirrhosis, Sparse hair OMIM:614099
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cryptorchidism, Pancreatic hyperplasia, Proptosis... OMIM:130650
Loeys-Dietz Syndrome 1
Hypertelorism, Cervical spine instability, Chiari malformation, Proptosis, Scoliosis OMIM:609192
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the odontoid proces... OMIM:223800
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Abnormally ossified vertebrae, Short stature, Long eyelashes in irre... ORPHA:800
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Rett Syndrome
Kyphosis, Cachexia, Short stature, Scoliosis OMIM:312750
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Hypertelorism, Cryptorchidism, Widow's peak, Proptosis, Shawl scrotum, Thi... ORPHA:1519
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Abnormal cerebellum morphology, Scoliosis OMIM:211530
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture,... OMIM:219090
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Decreased liver function, Increased intramyocellular lipid droplets,... OMIM:220110
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive OMIM:210200
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Scoliosis ORPHA:404440
Familial Gestational Hyperthyroidism
Proptosis, Weight loss ORPHA:99819
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Cerebellar vermis hypoplasia, Hypospadias, Short stature, Highly arched eyebro... OMIM:619841
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Post... ORPHA:699
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Clitoral hypertrophy, Hypertriglyceridemia, Acute pa... OMIM:269700
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Intrauterine... ORPHA:958
Gaucher Disease Type 1
Hepatomegaly, Hypersplenism, Kyphosis, Splenomegaly, Growth delay, Cirrhosis, Delayed puberty, Ve... ORPHA:77259
Congenital Myopathy 17
Proptosis, Failure to thrive in infancy OMIM:618975
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Rhizomelia, Short stature, Sparse eyelashes, Short n... OMIM:613610
Mucopolysaccharidosis Type 4
Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Zttk Syndrome
Curly hair, Absent gallbladder, Short stature, Sparse eyebrow, Kyphosis, Hemivertebrae, Growth de... OMIM:617140
14Q22Q23 Microdeletion Syndrome
Small scrotum, Short stature, Hypertelorism, Cryptorchidism, Proptosis ORPHA:264200
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Abnormal intra... ORPHA:363618
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Deeply set eye, Thin eyebrow OMIM:609944
Rothmund-Thomson Syndrome Type 1
Short stature, Small for gestational age, Alopecia totalis, Cryptorchidism, Growth delay, Sparse ... ORPHA:221008
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Small for gestational age, Postnatal growth retardation, Precocious puberty, Cryptor... ORPHA:96182
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Short stature, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline OMIM:250410
Papillon-Lefèvre Syndrome
Liver abscess, Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse bo... ORPHA:678
Robinow Syndrome, Autosomal Dominant 1
Sacral dimple, Rhizomelia, Short stature, Short neck, Hypertelorism, Cryptorchidism, Hypoplastic ... OMIM:180700
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
Down Syndrome
Sparse hair, Obesity, Short neck ORPHA:870
Kabuki Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Highly arched eyebrow, Precocious puberty, Crypt... ORPHA:2322
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Growth delay, Increased intramyocellula... ORPHA:17
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Neonatal short-limb short stature, Rhizomelia, Proptosis ORPHA:50945
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Beckwith-Wiedemann Syndrome
Hepatomegaly, Large for gestational age, Cryptorchidism, Splenomegaly, Abnormal pancreas morpholo... ORPHA:116
Cranioectodermal Dysplasia 1
Hepatomegaly, Rhizomelia, Short nail, Thin nail, Slow-growing hair, Malformation of the hepatic d... OMIM:218330
Mucolipidosis Type Ii
Dry hair, Short stature, Postnatal growth retardation, Kyphosis, Splenomegaly, White hair, Weight... ORPHA:576
Oculoectodermal Syndrome
Growth delay, Proptosis, Supernumerary nipple, Short neck OMIM:600268
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Hypogonadotropic hypogonadism, Sparse eyelashes, Sparse axillary hair, Hyperte... OMIM:129900
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hepatomegaly, Proptosis, Splenomegaly OMIM:612301
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Hypoplasia of the pons, Kyphosis, Rectovaginal fistula, Cerebellar hypoplasia OMIM:619708
Proteus Syndrome
Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Long penis, H... ORPHA:744
Acth-Independent Macronodular Adrenal Hyperplasia
Primary hypercortisolism, Kyphosis, Increased circulating cortisol level, Truncal obesity OMIM:219080
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Sparse eyebrow OMIM:224900
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Hypospadias, Hypertelorism, Sparse eyebrow, Kyphosis, Male urethral meatus ste... ORPHA:464738
Stuve-Wiedemann Syndrome 1
Short stature, Ovoid vertebral bodies, Short neck, Deeply set eye, Scoliosis, Sparse hair OMIM:601559
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Sparse scalp hair, Hypospadias, Postnatal growth retardation, Precocious puberty, Disproportionat... OMIM:210720
Craniotubular Dysplasia, Ikegawa Type
Short stature, Hypertelorism, Increased intervertebral space, Platyspondyly, Proptosis OMIM:619727
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Ramon Syndrome
Short stature, Enlarged labia minora, Kyphosis, Scoliosis, Decreased body weight, Hypertrichosis OMIM:266270
17Q11 Microdeletion Syndrome
Short stature, Hypertelorism, Precocious puberty, Kyphosis, Deeply set eye, Abnormality of the ve... ORPHA:97685
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Fair hair, Hypospadias, Small for gestational age, Testicular neoplasm, Hyperlordo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Fair hair, Hypospadias, Small for gestational age, Testicular neoplasm, Hyperlordo... ORPHA:363958
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hyperlordosis, Precocious puberty, Hypertelorism, Synophrys, Obesity, Hepatosplenom... OMIM:301066
Orofaciodigital Syndrome Iii
Kyphosis, Hyperconvex nail, Hypertelorism OMIM:258850
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Macroorchidism, Precocious puberty, Hepatitis, Cholestasis, Hepa... ORPHA:562
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Alopecia, Brittle hair, Hypertelorism, Pancreatic cysts, Abnormali... ORPHA:2750
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Macronodula... OMIM:620005
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of ... ORPHA:93111
Rothmund-Thomson Syndrome
Small for gestational age, Short stature, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Sma... ORPHA:2909
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Failure to thrive in infancy, Chronic hepatic failure, Cholestasis ORPHA:746
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Small for gestational age, Kyphosis, Cryptorchidism, Birth length less than 3rd perc... ORPHA:464311
Elsahy-Waters Syndrome
Bifid scrotum, Thick eyebrow, Hypospadias, Hypertelorism, Bilateral cryptorchidism, Synophrys, Pr... OMIM:211380
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate short stature,... OMIM:616482
Arboleda-Tham Syndrome
Highly arched eyebrow, Bilateral cryptorchidism, Growth delay, Deeply set eye, Proptosis, Thin ey... OMIM:616268
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Dyrk1A-Related Intellectual Disability Syndrome
Short stature, Hypospadias, Small for gestational age, Kyphosis, Cryptorchidism, Deeply set eye, ... ORPHA:464306
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Truncal obe... OMIM:610489
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Synophrys, Hypotelorism, Deeply set eye, Micropenis, Thoracic hypertrichosis, Hepatic steatosis, ... OMIM:619503
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Short neck, Postnatal growth retardation, C... OMIM:268300
Multiple Pterygium Syndrome, Escobar Variant
Short stature, Thoracolumbar scoliosis, Hypospadias, Short neck, Hypertelorism, Kyphosis, Cryptor... OMIM:265000
Aicardi Syndrome
Block vertebrae, Hepatoblastoma, Precocious puberty, Scoliosis, Delayed puberty, Aplasia/Hypoplas... ORPHA:50
Coffin-Siris Syndrome 1
Dry hair, Hypotelorism, Spina bifida occulta, Dandy-Walker malformation, Short stature, Hypospadi... OMIM:135900
Holoprosencephaly 3
Cyclopia, Proptosis, Hypotelorism OMIM:142945
Cdags Syndrome
Sparse scalp hair, Sparse eyelashes, Hypospadias, Sparse eyebrow, Kyphosis, Rectovaginal fistula OMIM:603116
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Kyphosis, Scoliosis ORPHA:261144
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection OMIM:158310
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Mild postnatal growth retardation, Kyphosi... ORPHA:90324
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Short stature, Short neck, Hypertelorism, Obesity, Deeply set eye, Sparse hair, In... OMIM:617157
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Hypertelorism, Hypoplasia of the odontoid process, Atlantoaxial instability, Platyspo... OMIM:271665
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Cockayne Syndrome
Cerebellar atrophy, Hepatomegaly, Dry hair, Severe short stature, Elevated hepatic transaminase, ... ORPHA:191
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty,... OMIM:619718
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Growth delay, Failure to thrive, Sparse hair OMIM:615508
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Testicular adrenal rest... ORPHA:361
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Ambiguous genitalia, Abnormal hair pattern, Absent eyelashes... ORPHA:920
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Hypospadias, Supernumerary nipple, Hyperlordosis, Postnatal growth... OMIM:113620
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... OMIM:271700
Glass Syndrome
Sparse hair, Long eyelashes, Short stature, Nail dysplasia OMIM:612313
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Jaundice, Cirrhosis, Hepati... OMIM:229600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Highly arched eyebro... OMIM:280000
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Small for gestational age, Hypospadias, Highly arched eyebrow, Hype... OMIM:220111
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Kyphosis, Failure to thrive, Short stature OMIM:239000
Mend Syndrome
Sacral dimple, Short stature, Hypertelorism, Kyphosis, Cryptorchidism, Failure to thrive, Dandy-W... ORPHA:401973
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Hepatomegaly, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Failure ... OMIM:612132
Scalp-Ear-Nipple Syndrome
Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Hypotelorism, Patchy alopecia,... OMIM:181270
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Hepatitis, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Abnormal... ORPHA:436252
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Absent nipple, Short stature, Hypertelorism, Sparse eyebrow, Hydrocele testis... OMIM:620186
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short stature, Kyphosis, Synophrys, Growth delay, Scoliosis OMIM:619557
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Hypertelorism, Precocious puberty, Cryptorchidism, Nail dysplasia, Scoliosis, Sparse hair OMIM:616682
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Microphthalmia, Lenz Type
Hypospadias, Short stature, Hyperlordosis, Kyphosis, Cryptorchidism, Scoliosis ORPHA:568
Rothmund-Thomson Syndrome Type 2
Short stature, Small for gestational age, Alopecia totalis, Cryptorchidism, Growth delay, Sparse ... ORPHA:221016
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Hypertriglyceridemia, Precocious puberty, Obesity, Scoliosis ORPHA:369837
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Short neck, Hypertelorism, Kyphosis, Hemivertebrae, Low anterior hairline, Scoliosis OMIM:618223
Monosomy 9Q22.3
Ovarian fibroma, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral co... ORPHA:77301
Tay-Sachs Disease
Cerebellar atrophy, Abnormality of glycolipid metabolism, Precocious puberty, GM2-ganglioside acc... ORPHA:845
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Short stature, Obesity, Scoliosis OMIM:618493
Monosomy 22
Short neck, Synophrys, Hepatosplenomegaly, Sparse hair, Micropenis ORPHA:96123
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Postnatal growth retardation, Precocious puberty, Labial hypertrophy, Cryptorchidis... ORPHA:96191
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Wrinkly Skin Syndrome
Short stature, Short nail, Hypertelorism, Cryptorchidism, Kyphosis, Scoliosis, Sparse hair, Intra... OMIM:278250
Holoprosencephaly 2
Hypotelorism, Proptosis, Cerebellar hypoplasia, Scoliosis, Cyclopia OMIM:157170
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Sacral dimple, Short stature, Short neck, Hyperlordosis, Precocious puberty, Low ante... OMIM:619950
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... ORPHA:20
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Precocious puberty, Obesity, Growth delay, Platyspondyly, Scoliosis OMIM:619269
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Cryptorchidism, Scoliosis ORPHA:261250
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Short stature, Enlarged polycystic ovaries, Kyp... ORPHA:201
Granulomatosis With Polyangiitis
Proptosis, Prostatitis, Pancreatitis, Weight loss ORPHA:900
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Short stature, Proptosis, Scoliosis, Vertebral compression fracture OMIM:610682
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty ORPHA:91354
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Short stature, Supernumerary nipple, Cryptorchidism, Clitoral hypoplas... OMIM:305600
Triosephosphate Isomerase Deficiency
Kyphosis, Jaundice, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, Fai... OMIM:615512
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Hypert... ORPHA:2658
Alexander Disease
Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Scoliosis, Failure to thrive ORPHA:58
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Short neck, Synophrys, Sparse hair, Thick eyebrow OMIM:609460
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Synophrys, Failure to thrive, Scoliosis ORPHA:476126
Craniosynostosis And Dental Anomalies
Short stature, Hypertelorism, Chiari malformation, Proptosis, Fingernail dysplasia OMIM:614188
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Short stature, Hypospadias, Premature thelarche, Small for gestational age, Failur... ORPHA:268261
Loeys-Dietz Syndrome 2
Hypertelorism, Chiari malformation, Proptosis, Scoliosis, Spondylolisthesis OMIM:610168
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Alopecia, Kyphoscoliosis, Kyphosis, Cryp... ORPHA:536532
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Vertebral hyperostosis, Fragile nails OMIM:164200
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... OMIM:618019
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Abnormal form of the vertebral bodi... ORPHA:3042
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Alström Syndrome
Thoracic scoliosis, Hypoplasia of the Leydig cells, Deeply set eye, Hepatic fibrosis, Micropenis,... ORPHA:64
Cowden Syndrome 6
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Varicocele OMIM:615109
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Sponastrime Dysplasia
Lumbar hyperlordosis, Rhizomelia, Hypospadias, Kyphoscoliosis, Small for gestational age, Precoci... ORPHA:93357
Viss Syndrome
Sparse scalp hair, Alopecia, Short stature, Hypertelorism, Kyphosis, Hirsutism, Deeply set eye, P... OMIM:619472
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Patchy alopecia, Scoliosis ORPHA:2874
Pallister-Killian Syndrome
Small scrotum, Short neck, Sparse hair, Alopecia, Rhizomelia, Hypospadias, Mesomelic/rhizomelic l... OMIM:601803
Myhre Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc... ORPHA:2588
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Mild postnatal growth retardation, Thoracolumbar scoliosis, Bilateral cryptorc... OMIM:150230
Proboscis Lateralis
Abnormal eyebrow morphology, Abnormal location of the eyebrow, External genital hypoplasia, Hyper... ORPHA:141099
Zygomycosis
Peritonitis, Hepatitis, Proptosis, Splenic abscess, Pancreatitis ORPHA:73263
Cherubism
Proptosis OMIM:118400
Generalized Glucocorticoid Resistance Syndrome
Frontal balding, Precocious puberty, Oligozoospermia, Increased circulating cortisol level, Ambig... ORPHA:786
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Anoperineal fistula, Nail dystrophy, Sparse hair, Failure to thrive, Alopecia univ... ORPHA:158668
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Naxos Disease
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Osteogenesis Imperfecta, Type Iv
Kyphosis, Short stature, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Short stature, Rhizomelia, Kyphoscoliosis, Short neck, Highly arched eyebro... OMIM:143095
Cowden Syndrome 5
Hydrocele testis, Kyphosis, Scoliosis, Ovarian cyst OMIM:615108
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Short stature, Kyphosis, Cryptorchidism, Fine hair, Azoospermia, Platyspondyly... ORPHA:534
Spondyloenchondrodysplasia
Short stature, Kyphosis, Disproportionate short-trunk short stature, Hepatitis, Platyspondyly ORPHA:1855
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Supernumerary nipple, Short neck, Hypertelorism, Cryptorchidism, Kyphosis, Disproportionate short... OMIM:619194
Coffin-Lowry Syndrome
Short stature, Highly arched eyebrow, Hypertelorism, Kyphosis, Lumbar kyphosis, Hyperconvex finge... OMIM:303600
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Kyphosis, Pontocerebellar atrophy ORPHA:171629
Pallister-Hall Syndrome
Decreased circulating cortisol level, Short stature, Precocious puberty, Cryptorchidism, Hemivert... OMIM:146510
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Short stature, Scoliosis ORPHA:1969
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Failure to thrive, Hirsutism OMIM:617527
Digeorge Syndrome
Pilonidal sinus, Short stature, Hypertelorism, Splenomegaly, Obesity, Hydrocele testis, Ovarian c... OMIM:188400
Primrose Syndrome
Sparse scalp hair, Short stature, Hypergonadotropic hypogonadism, Absent facial hair, Hypertelori... OMIM:259050
Mend Syndrome
Sacral dimple, Short stature, Kyphosis, Cryptorchidism, Failure to thrive, Dandy-Walker malformation OMIM:300960
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Agel Amyloidosis
Sparse hair, Abnormal spleen morphology, Nail dystrophy ORPHA:85448
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Scoliosis, Thick eyebrow OMIM:162300
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... ORPHA:1724
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Kyphosis, Cryptorchidism, Cerebellar hypoplasia, Scoliosis, Delayed puberty, Slen... OMIM:300967
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Proptosis, Weight loss ORPHA:79078
Classic Homocystinuria
Elevated hepatic transaminase, Sparse scalp hair, Hepatomegaly, Kyphosis, Scoliosis ORPHA:394
Menkes Disease
Hypopigmentation of hair, Woolly hair, Prolonged neonatal jaundice, Sparse hair, Intrauterine gro... ORPHA:565
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Mccune-Albright Syndrome
Precocious puberty, Increased circulating cortisol level OMIM:174800
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Precocious puberty, Absent thumbnail, Micropenis, Failure to thrive ORPHA:1934
Lowe Oculocerebrorenal Syndrome
Short stature, Postnatal growth retardation, Kyphosis, Cryptorchidism, Platyspondyly, Aminoacidur... OMIM:309000
Renpenning Syndrome 1
Brittle hair, Hypospadias, Short stature, Phimosis, Scoliosis, Sparse hair, Decreased testicular ... OMIM:309500
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Hypertelorism, Absent eyelashes, Hypoplastic labia majora, Sparse hair, Hypoplast... OMIM:200110
Restrictive Dermopathy
Thoracic kyphoscoliosis, Hypospadias, Short nail, Hypertelorism, Sparse eyebrow, Aplasia/Hypoplas... ORPHA:1662
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Fail... OMIM:618278
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Juvenile Xanthogranuloma
Proptosis ORPHA:158000
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Short stature, Kyphosis, Platyspondyly, Spondylolysis, Scol... OMIM:208400
Osteoporosis-Pseudoglioma Syndrome
Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ve... OMIM:259770
Vascular Ehlers-Danlos Syndrome
Alopecia, Short stature, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, C... ORPHA:286
Loeys-Dietz Syndrome 3
Hypertelorism, Cystocele, Cervical spine instability, Proptosis, Scoliosis, Intervertebral disc d... OMIM:613795
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Hypertriglyceridemia, Small for gestational age, Recurrent pancreatitis, Spars... OMIM:606721
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... OMIM:150400
Chime Syndrome
Sparse hair, Hypertelorism, Fine hair ORPHA:3474
Cleidocranial Dysplasia 1
Short stature, Hypertelorism, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Spond... OMIM:119600
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Poland Syndrome
Hypospadias, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Low posterior hairline, Vertebr... ORPHA:2911
Cutis Laxa, Autosomal Recessive, Type Ib
Proptosis, Hypertelorism OMIM:614437
Pallister-Hall Syndrome
Small scrotum, Short stature, Hypospadias, Large for gestational age, Precocious puberty, Cryptor... ORPHA:672
Occipital Horn Syndrome
Thick hair, Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Coarse hair, Scoliosis ORPHA:198
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Tolchin-Le Caignec Syndrome
Precocious puberty, Thick eyebrow, Hirsutism, Hypertelorism OMIM:618971
Floating-Harbor Syndrome
Hypospadias, Short stature, Kyphoscoliosis, Short neck, Precocious puberty, Cryptorchidism, Small... ORPHA:2044
Familial Osteodysplasia, Anderson Type
Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Tropical Endomyocardial Fibrosis
Splenomegaly, Hepatomegaly, Proptosis, Cachexia ORPHA:75565
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Long eyelashes, Rhizomelia, Hypospadias OMIM:615877
Acromegaly
Hypogonadotropic hypogonadism, Abnormal fingernail morphology, Kyphosis, Synophrys, Long penis, W... ORPHA:963
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Hepat... ORPHA:1359
Osteogenesis Imperfecta
Short stature, Cervical kyphosis, Rhizomelia, Small for gestational age, Kyphosis, Vertebral comp... ORPHA:666
Menke-Hennekam Syndrome 1
Cryptorchidism, Deeply set eye, Long eyelashes, Scoliosis, Sparse hair, Thick eyebrow OMIM:618332
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Williams Syndrome
Sacral dimple, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Failure to thri... ORPHA:904
Occipital Horn Syndrome
Kyphosis, Growth delay, Platyspondyly, Coarse hair, Pili torti OMIM:304150
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Abnormal... ORPHA:548
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Distichiasis OMIM:153400
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula, Thick eyebrow OMIM:608980
Somatomammotropinoma
Hypogonadotropic hypogonadism, Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal ... ORPHA:314769
Retinoblastoma
Proptosis ORPHA:790
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Scalp-Ear-Nipple Syndrome
Sparse hair, Breast aplasia, Abnormal fingernail morphology ORPHA:2036
Cerebrocostomandibular Syndrome
Kyphosis, Short stature, Intrauterine growth retardation ORPHA:1393
Tuberous Sclerosis 1
Precocious puberty, Preauricular hair displacement, Subungual fibromas OMIM:191100
Marfan Syndrome
Cachexia, Kyphosis, Scoliosis, Slender build, Spondylolisthesis ORPHA:558
Sotos Syndrome
Sacrococcygeal teratoma, Cerebellar vermis hypoplasia, Hypospadias, Phimosis, Kyphosis, Cryptorch... ORPHA:821
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Precocious puberty, Cryptorchidism, Scoliosis, Uterine prolapse, High anterior hai... ORPHA:438213
Tuberous Sclerosis 2
Precocious puberty, Subungual fibromas OMIM:613254
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ... OMIM:300106
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria OMIM:236250
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Homocystinuria ORPHA:395
Isolated Anencephaly
Intrauterine growth retardation ORPHA:563609
Thrombophilia Due To Thrombin Defect
OMIM:188050
Schizophrenia
OMIM:181500
Neural Tube Defects, Folate-Sensitive
OMIM:601634

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 Mthfr

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 Mthfr.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mthfrtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mthfrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mthfrtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mthfrtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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