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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Isolat