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Gene: Bbs2 MGI:2135267

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Gene Summary

Name:
Bardet-Biedl syndrome 2
Synonyms:
2410125H22Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Bbs2em2(IMPC)Wtsi HET Early adult 9.77×10-10
decreased lean body mass Bbs2em2(IMPC)Wtsi HET Early adult 4.64×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bbs2 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 predicted to be associated to Bbs2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Anosmia, Obesity, Hyperinsulinemia, Increased serum leptin,... OMIM:617885
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Po... ORPHA:329249
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Polyphagia, Obes... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Polyphagia, Obes... ORPHA:71526
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Huntington Disease
Dystonia, Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Chorea, Depression, We... ORPHA:399
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy, P... OMIM:617119
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Bardet-Biedl Syndrome 10
Renal insufficiency, Retinal dystrophy, Obesity, Renal cyst, Hypogonadism, Rod-cone dystrophy OMIM:615987
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Anosmia, Obesi... OMIM:615994
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Obesity, Renal cyst, Stage 5 ch... OMIM:615993
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Obesity, Hypogonadism, Poly... OMIM:614962
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Hypergonado... OMIM:613724
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, Renal insufficiency, External genital hypoplasia, Obesity, Renal hypopla... OMIM:615996
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Absence of pu... OMIM:610628
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... OMIM:615990
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Decreased circulating free fatty acid ... ORPHA:276575
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... OMIM:615703
Peroxisome Biogenesis Disorder 9B
Anosmia, Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Total anosmia OMIM:614879
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-o... ORPHA:324575
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... ORPHA:33543
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal in... ORPHA:436182
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypo... OMIM:615982
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Renal insufficiency, Irregular menstruation, Obesity, Tr... OMIM:615986
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Depressed nasal bridge, Very long chain fa... OMIM:264470
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Hepatic steatosis OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Agitation, Type I d... ORPHA:276580
14Q11.2 Microduplication Syndrome
Depressed nasal bridge, Aggressive behavior, Hypothyroidism, Wide nasal bridge, Obesity, Attentio... ORPHA:261229
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Wide nasal bridge, Obesity, Wide nasal base, Polyphagia, Self-mutilation OMIM:616521
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Abnormal e... OMIM:614963
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Agitation, ... ORPHA:276556
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod... OMIM:612526
Refsum Disease, Classic
Cardiomegaly, Anosmia, Elevated circulating phytanic acid concentration, Rod-cone dystrophy, Reti... OMIM:266500
Bardet-Biedl Syndrome 11
Hypogonadism, Retinopathy, Obesity OMIM:615988
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... OMIM:146110
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Small for gestational age, Decreased response to growth hormone stimulation test, Cryptor... ORPHA:3363
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Anosmia, Decreased circulating luteinizing hormone level, Decreased circulating f... OMIM:614897
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
6Q16 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Bulbous nose, Obesity, Abnormal temper tantrums, Polyph... ORPHA:171829
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Abnormality of the kidney, Aggressive behavior... ORPHA:75858
Temple Syndrome
Wide nose, Hypertriglyceridemia, Depressed nasal bridge, Anteverted nares, Small for gestational ... OMIM:616222
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Maternal diabetes, ... ORPHA:3157
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Dec... OMIM:616030
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308700
Hyperostosis Cranialis Interna
Hyposmia, Anosmia, Optic atrophy, Facial palsy OMIM:144755
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Decreased testicular size OMIM:614838
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Broad nasal tip, Obesity, Self-injurious behav... OMIM:613670
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Abnormal autonomic nervous system physiology, Attention deficit hypera... ORPHA:369873
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Anteverted nares, Abnormal retinal vascular morphology, Opti... ORPHA:791
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615995
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum OMIM:302950
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Small pituitary gland, Delayed puberty, H... OMIM:612702
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Flexion contracture, Optic atrophy, Depression, Irritability, Macular degeneration, Retin... OMIM:256730
Pick Disease Of Brain
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... OMIM:172700
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Small for gestational age, Decreased response... OMIM:275400
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615983
Smith-Magenis Syndrome
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self h... OMIM:182290
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Decreased circulating gonadotropin concen... OMIM:614841
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Xerostomia, Clitoral ... ORPHA:398079
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Hypoplasia of th... OMIM:618841
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Anosmia, Decreased testicular size, Hypogonadotropic hypogonadism OMIM:614858
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration OMIM:614322
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Hypogona... OMIM:615547
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Anosmia, Absence of pubertal development OMIM:615267
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Anosmia, Delayed puberty OMIM:615270
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism OMIM:612370
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Hypogonadotropic hyp... ORPHA:52901
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Urinary incontinence, Impaired distal vibration sensation, Impaired vibration sensation i... OMIM:604360
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... OMIM:614842
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... OMIM:615381
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Indifference To Pain, Congenital, Autosomal Recessive
Anhidrosis, Pain insensitivity, Urinary incontinence, Impaired temperature sensation, Impaired pr... OMIM:243000
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Flexion contracture, ... ORPHA:398069
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, External genital hypoplasia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Overfriendliness OMIM:618010
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Irritability, Disinhibition, Inappropriate laughter, Polyphagia OMIM:600274
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Absence of pubertal development, Decrease... OMIM:614837
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Refsum Disease
Splenomegaly, Abnormality of retinal pigmentation, Anosmia, Retinopathy ORPHA:773
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Anosmia, Optic atrophy OMIM:601152
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Nephronophthisis 15
Elevated hepatic transaminase, Obesity, Retinal degeneration, Nephronophthisis OMIM:614845
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-... ORPHA:228402
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Tremor, Splenomegaly, Thyrotoxicosis ... ORPHA:525731
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Delayed puberty, Hyposmia OMIM:147950
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... OMIM:614839
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Elevated hepatic transaminase, Retinal atrophy,... OMIM:617406
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism OMIM:244200
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Bardet-Biedl Syndrome 7
Hypogonadism, Rod-cone dystrophy, Depressed nasal bridge, Obesity OMIM:615984
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Intermittent diarrhea OMIM:620270
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Secondary amenorrhea, Depression,... ORPHA:3375
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Hypergonadotropic hypogonadism, Facial palsy, Depressed nasal bridge, Decre... OMIM:606407
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Johnson Neuroectodermal Syndrome
Choanal atresia, Facial palsy, Bulbous nose, Anosmia, Hypogonadism, Failure to thrive ORPHA:2316
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria ORPHA:163690
Spinocerebellar Ataxia 7
Tremor, Chorea, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressi... OMIM:164500
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... OMIM:618774
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... OMIM:608594
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Hepatic st... OMIM:613877
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Optic atrophy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, ... ORPHA:26792
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration, Distal sensory impairment OMIM:619764
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Anosmia, Decreased testicular size OMIM:614880
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge, Frontalis muscle weakness OMIM:210745
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Oculorenocerebellar Syndrome
Choreoathetosis, Nephropathy, Glomerular sclerosis, Retinal degeneration OMIM:257970
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism OMIM:615266
Insulinoma
Tremor, Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Increased body we... ORPHA:97279
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Young-Onset Parkinson Disease
Restless legs, Gastroparesis, Impulsivity, Tremor, Diarrhea, Depression, Male sexual dysfunction,... ORPHA:2828
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Lipodystrop... ORPHA:528
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Renal agenesis, Tremor, ... ORPHA:478
Angelman Syndrome
Optic disc pallor, Hyperactivity, Precocious puberty in females, Ataxia, Aggressive behavior, Tre... ORPHA:72
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal d... ORPHA:251004
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Type II diabetes mellitus OMIM:610947
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Inguinal hernia, Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal at... ORPHA:1135
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia, Delayed puberty OMIM:615271
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia OMIM:268010
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Dysdiadochokinesis, Retinal degeneration OMIM:256731
Musk, Inability To Smell
Anosmia OMIM:254150
11P15.4 Microduplication Syndrome
Anteverted nares, Obesity, Aggressive behavior ORPHA:300305
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Hernández-Aguirre Negrete Syndrome
Bulbous nose, Obesity, Delayed puberty ORPHA:2139
Intellectual Developmental Disorder, X-Linked 91
Short nose, Obesity OMIM:300577
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Decreased distal sensory nerve action potential, Hepatic steatosis... OMIM:618400
Man1B1-Cdg
Wide nose, Prominent nose, Wide nasal bridge, Truncal obesity, Polyphagia, Underdeveloped nasolab... ORPHA:397941
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Retinal degeneration OMIM:204500
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Optic atrophy, Abnormal mitochondrial morphology, Choreoatheto... OMIM:300438
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Wagro Syndrome
Decreased testicular size, Proteinuria, Aggressive behavior, Obesity, Agitation, Low frustration ... OMIM:612469
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Citrullinemia Type Ii
Elevated hepatic transaminase, Restlessness, Hyperactivity, Decreased HDL cholesterol concentrati... ORPHA:247585
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Holoprosencephaly
Congenital diaphragmatic hernia, Abnormality of the spleen, Depressed nasal ridge, Panhypopituita... ORPHA:2162
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Recurrent upper respiratory tract infections, Obesity OMIM:300209
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
8P11.2 Deletion Syndrome
Depressed nasal bridge, Retinal dystrophy, Hypogonadotropic hypogonadism, Cryptorchidism, Splenom... ORPHA:251066
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Anteverted nares, Depressed nasal bridge, Failure to th... ORPHA:819
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Bulbous nose, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicu... ORPHA:261483
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormality of the sense of smell, Abnormal ... OMIM:228300
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Autism, Susceptibility To, X-Linked 6
Obesity, Underdeveloped nasal alae OMIM:300872
Bardet-Biedl Syndrome 2
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia, Hypogonadotropic hypogonadism ORPHA:1295
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Abnormal reproductive system morphology, Chorea, Gastroesophageal r... ORPHA:70472
Kufor-Rakeb Syndrome
Hyposmia, Anosmia, Dysphagia, Aggressive behavior OMIM:606693
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... OMIM:151660
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Luscan-Lumish Syndrome
Aggressive behavior, Long nose, Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, ... OMIM:616831
Wilson Disease
Acute hepatic failure, Edema, Hepatocellular carcinoma, Tremor, Hand tremor, Pedal edema, Aminoac... OMIM:277900
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Trisomy 18P
Facial palsy, Underdeveloped nasal alae, Bilateral cryptorchidism, Wide nasal bridge, Attention d... ORPHA:1715
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... OMIM:147250
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Tremor, Constipation, Gastroesop... ORPHA:300536
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Broad nasal tip... OMIM:300148
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R... OMIM:602271
Alstrom Syndrome
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceride... OMIM:203800
X-Linked Acrogigantism
Abnormal optic chiasm morphology, Increased body mass index, Decreased thyroid-stimulating hormon... ORPHA:300373
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulin... ORPHA:3085
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... ORPHA:280365
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Secondary Short Bowel Syndrome
Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weig... ORPHA:95427
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Impulsivity, Spastic/hyperactive bladder, Depression, Weight loss, Chro... ORPHA:411602
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Aicardi-Goutieres Syndrome 9
Edema, Hepatic fibrosis, Micropenis, Hypothyroidism, Self-mutilation, Hepatic steatosis, Hepatome... OMIM:619487
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Obesity ORPHA:85274
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Asplenia, Absent outer dynein arms, Anosmia, Chronic rhinitis OMIM:244400
Senior-Loken Syndrome 9
Retinal dystrophy, Obesity, Stage 5 chronic kidney disease, Cholestasis, Macular degeneration, Tu... OMIM:616629
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Oral-pharyngeal dysphagia, Bulbous nos... ORPHA:480907
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... OMIM:176270
3-Methylglutaconic Aciduria, Type V
Hypospadias, Ataxia, Elevated circulating aspartate aminotransferase concentration, Cryptorchidis... OMIM:610198
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... ORPHA:79083
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hernia of the abdominal wall, Obesity ORPHA:3055
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Congenital Disorder Of Glycosylation, Type Ia
Edema, Tremor, Flexion contracture, Dysmetria, Renal cyst, Vomiting, Hepatic fibrosis, Hypothyroi... OMIM:212065
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Retinal dystrophy, Prominent nasal bridge, Obesity, Hyperuricemia, Attenti... ORPHA:261222
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Spermatogenic Failure 17
Male infertility OMIM:617214
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... ORPHA:2348
Craniopharyngioma
Papilledema, Enlarged pituitary gland, Abnormal nasal bone morphology, Hypogonadotropic hypogonad... ORPHA:54595
Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentr... OMIM:277700
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Rafiq Syndrome
Wide nose, Prominent nose, Aggressive behavior, Bulbous nose, Flexion contracture, Wide nasal bri... OMIM:614202
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia ORPHA:85334
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity OMIM:610156
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Depressed nasal bridge, Elevated circulating creatin... OMIM:232400
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Retinal dystrophy, Obesity OMIM:616756
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age OMIM:240900
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Clark-Baraitser Syndrome
Hyperactivity, Anteverted nares, Depressed nasal bridge, Aggressive behavior, Obesity, Short nose... OMIM:617752
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Ataxia, Abnormality of the sense of smell, Central hypothyroidism,... OMIM:616113
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital stationary night blindness, Congenital hypothyroidism, Wide nasal bridge, Obesity ORPHA:352530
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Wide nose, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Hypercholesterolemia ORPHA:254531
Chromosome Xq21 Deletion Syndrome
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration OMIM:303110
Chung-Jansen Syndrome
Anteverted nares, Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, Attention deficit hy... OMIM:617991
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia, Recurrent sinusitis OMIM:620282
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Vomiting, Failure to thrive, Hepatic steatosis OMIM:620357
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Dysphagia, Limb dystonia, ... ORPHA:508093
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Depressed nasal bridge, Obesity, Compulsive behaviors ORPHA:444002
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Mucolipidosis Iv
Optic atrophy, Ganglioside accumulation, Retinal degeneration, Dystonia OMIM:252650
Narcolepsy Type 1
Obesity ORPHA:2073
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Vomiting, Hepatic fa... OMIM:617872
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Maturity-onset di... ORPHA:96184
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Lipoatrophy, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Lipoatrophy, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:79084
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Dysmetria, Abnormal optic disc morphology, Abnormal repetitive m... ORPHA:96121
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Polyhydramnios, Abnormality of the pancreas, Abnormal liver parench... ORPHA:3032
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Tremor, Optic atrophy, Gastroesophageal reflux, Attention deficit hyperactiv... ORPHA:442835
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Classic Galactosemia
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, P... ORPHA:79239
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, I... OMIM:616488
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ... ORPHA:71
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Anorexia, Ele... OMIM:619386
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Obesity ORPHA:276630
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Wide nose, Anteverted nares, Depressed nasal bridge, Aggressive behavior, Broad na... OMIM:600430
Alg6-Cdg
Ataxia, Rod-cone dystrophy, Jaundice, Abnormality of the liver, Failure to thrive, Retinal degene... ORPHA:79320
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Depressed nasal bridge, Decreased response to growth hormone stim... ORPHA:79444
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Aggressive behavior, Prominent nose, Bulbous nose, Depressed nasal ridge, Self-injurious ... OMIM:156200
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Postural tremor, Impaired proprioception, Truncal ataxia, Hand tremor, Limb atax... ORPHA:412057
Coach Syndrome 1
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Anteverted nares, Ataxia, Unilate... OMIM:216360
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic fibrosis, Nephr... OMIM:615630
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Depression, Hyperhidrosis, Pigmentary retinopathy, Dysphagia, Emotional labili... ORPHA:79264
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Optic atrophy, Obesity OMIM:614651
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu... OMIM:619013
Chromosome 22Q13 Duplication Syndrome
Anteverted nares, Narrow nasal ridge, Impulsivity, Attention deficit hyperactivity disorder, Poly... OMIM:615538
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Anteverted nares, Impulsivity, Broad nasal tip, Cryptorchidism, Recurrent upper respiratory tract... ORPHA:589905
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Hsd10 Disease, Infantile Type
Restlessness, Dystonia, Optic atrophy, Choreoathetosis, Abnormality of the lower urinary tract, D... ORPHA:391428
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy ORPHA:363741
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Ataxia, Cryptorchidism, Optic atrophy, Aminoaciduria, Gastroesophageal r... OMIM:249270
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy OMIM:601794
Marcus-Gunn Syndrome
Choanal atresia, Abnormal fifth cranial nerve morphology, Morning glory anomaly, Abnormality of t... ORPHA:91412
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Papilledema, Obesity ORPHA:238624
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis, Hypopituitarism, Rod-co... ORPHA:140976
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... OMIM:613464
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Pigmentary retinopathy, Rod-cone d... OMIM:605231
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Retinopathy, Bloody diarrhea OMIM:615119
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Spastic Paraplegia 15, Autosomal Recessive
Ataxia, Urinary incontinence, Bowel incontinence, Urinary urgency, Macular degeneration, Emotiona... OMIM:270700
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Decreased nerve conduction velocity, Drusen, Distal sensory impairm... OMIM:608895
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Anteverted nares, Biliary tract abnormality, Obesity, Type II diabetes mellitus,... ORPHA:3191
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Cryptorchidism, Anosmia, Single naris, Absent nares, Hypogonadism, Hyposmia ORPHA:2250
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple... ORPHA:444490
Summitt Syndrome
Wide nose, Camptodactyly of finger, Depressed nasal ridge, Obesity, Tall stature ORPHA:3210
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Multiple lipomas, Attention deficit hyperactivity disor... ORPHA:210548
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Microtriplication 11Q24.1
Wide nose, Hyperlipidemia, Obesity, Bruxism ORPHA:289522
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Dpm1-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ataxia, External genital hypoplas... ORPHA:79322
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Restlessness, Wide nose, External genital hypoplasia, Prominent nasal ... ORPHA:251028
Gangliocytoma
Decreased female libido, Elevated circulating growth hormone concentration, Hyperhidrosis, Abnorm... ORPHA:251937
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... OMIM:619048
Hanac Syndrome
Retinal vascular tortuosity, Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Elevated hepatic transaminase, Hypergonadotropic hypog... ORPHA:298
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Depressed nasal bridge, Macular atrophy, Fa... OMIM:619418
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Increased circulating free fatty acid level, Abnormal circulating insu... ORPHA:293964
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Dysphagia, Gait ataxia, Undetectable visual evo... OMIM:601338
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Ataxia, Tremor, Chorea, Abnormal pancreas morph... ORPHA:48818
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
48,Xxyy Syndrome
Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, Ataxia, Abnormal dental ena... ORPHA:10
Papillorenal Syndrome
Edema, Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Opt... OMIM:120330
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge, Cryptorchidism, Obesit... ORPHA:110
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Gastroesophageal reflux, Retinal degeneration OMIM:617173
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, U... OMIM:616108
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... ORPHA:79086
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Laron Syndrome
Aplasia/Hypoplasia involving the nose, Hypoplastic nasal bridge, Abnormality of the endocrine sys... ORPHA:633
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Joubert Syndrome 20
Retinopathy, Self-mutilation, Renal cyst, Aggressive behavior OMIM:614970
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... OMIM:616881
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Depressed nasal bridge, Anteverted nares, Renal cyst, Multiple ren... OMIM:614883
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:261
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615985
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98853
Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Dystonia, Bull's eye maculopathy, Impulsivity, Optic atrophy, Craniofacial dystoni... ORPHA:157850
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Depressed nasal bridge, Decreased response to growth hormone stim... ORPHA:79443
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Severe temper tantrums, Obesity, Short nose, Stereotypical hand wringing OMIM:619854
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Delayed ... ORPHA:2326
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of... ORPHA:1606
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ... ORPHA:369
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia OMIM:261550
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Primary hyperparathyroidism, Irregular m... ORPHA:189427
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Bulbous nose, Increased circulating gonadotropin level... OMIM:300869
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Mehmo Syndrome
Cryptorchidism, Diabetes mellitus, Agitation, Obesity ORPHA:85282
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Abnormal amplitude of flash visual evoked potentials,... ORPHA:168491
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy, Obesity OMIM:245800
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Renal steatosis OMIM:261650
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... ORPHA:890
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Waardenburg Syndrome, Type 2E
Anosmia, Ocular albinism, Hypopigmentation of the fundus OMIM:611584
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Failure to thrive in infancy, Anteverted nares, Depressed nasal bri... OMIM:618829
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Renal cyst, Polycystic liver disease OMIM:174050
Autosomal Recessive Spastic Paraplegia Type 46
Ataxia, Urinary incontinence, Reduced sperm motility, Infertility, Head tremor, Truncal ataxia, A... ORPHA:320391
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Obesi... OMIM:614613
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... ORPHA:2924
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... ORPHA:2970
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Inguinal hernia, Underdeveloped nasal alae, Cryptorchidism, Abnormality of pattern visual evoked ... ORPHA:166035
Pseudohypoparathyroidism, Type Ic
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Obesity, ... OMIM:612462
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Episodic vomiting, Enuresis nocturna, Gast... OMIM:615873
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Adnp Syndrome
Recurrent urinary tract infections, Inguinal hernia, Depressed nasal bridge, Urinary incontinence... ORPHA:404448
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Ataxia, Abnorm... OMIM:209900
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:600151
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Hyperactivity, Anteverted nares, Precocious puberty, Cryptorchidism, Hyperli... ORPHA:254346
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Obesity, Short columella, Umbilical her... ORPHA:171839
Joubert Syndrome 6
Ataxia, Stage 5 chronic kidney disease, Hepatic fibrosis, Bile duct proliferation, Chorioretinal ... OMIM:610688
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Cimdag Syndrome
Hepatomegaly, Retinal dystrophy, Ataxia, Lipodystrophy, Microvesicular hepatic steatosis, Chorea,... OMIM:619273
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... OMIM:619260
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Hydrops fetalis, Oligohydramnios, Nephropathy,... ORPHA:1909
Renal Tubular Dysgenesis
Polyhydramnios, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis, ... ORPHA:3033
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Depressed nasal bridge, Prominent nose, Aggressive behavior, Bulbous nose, Pica, Obesity, Promine... OMIM:620191
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Meckel Syndrome 13
Flexion contracture, Retinopathy, Polycystic kidney dysplasia, Ataxia OMIM:617562
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Cryptorchidism, Obesit... ORPHA:412035
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Hepatocellular... OMIM:256810
Seckel Syndrome 10
Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglo... OMIM:617253
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity, Broad nasal tip ORPHA:3459
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hepatic ... ORPHA:79303
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cyst, Ureteral agenes... OMIM:236500
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Repetitive ... ORPHA:66634
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Lymphedema, Overweight, Abnormality of pattern visual evoked pot... ORPHA:2822
Hydrolethalus
Abnormality of the sense of smell, Cryptorchidism, Polyhydramnios, Abnormal fallopian tube morpho... ORPHA:2189
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Wide nasal bridge, Truncal obesity, Bruxism, Recurrent hand flapping OMIM:613192
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Rabin-Pappas Syndrome
Hyponatremia, Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal t... OMIM:620155
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... OMIM:617591
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nose, Overweight, Pica, Wide nasal bridge, Constipation, Recurrent hand flapping, Tall stature OMIM:615032
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Bulbous nose, Obesity, Compulsive beh... OMIM:618430
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Anteverted nares, Convex nasal ridge, Obesity ORPHA:1035
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Bulbous nose, Obesity OMIM:300238
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... ORPHA:2088
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Optic atrophy, Renal tubular dysfunction, P... ORPHA:436271
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, Bulb... ORPHA:2180
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Flexion contracture, Obesity, Emotional l... OMIM:300055
Superficial Siderosis
Ataxia, Partial anosmia, Impaired temperature sensation, Impaired pain sensation, Functional abno... ORPHA:247245
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Anteverted nares, Ataxia, Depre... OMIM:618161
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Atkin-Flaitz Syndrome
Macroorchidism, Anteverted nares, Obesity, Broad nasal tip ORPHA:1193
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Immunodeficiency 61
Recurrent sinusitis, Obesity, Attention deficit hyperactivity disorder OMIM:300310
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Dystonia, Postural tremor, Chorea, Optic atrophy, Impair... ORPHA:98755
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Rod-cone dystrophy, Obesity OMIM:615633
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Infantile Neuroaxonal Dystrophy
Hyperactivity, Dystonia, Ataxia, Impulsivity, Flexion contracture, Optic atrophy, Constipation, A... ORPHA:35069
Meningioma
Papilledema, Decreased circulating cortisol level, Enlarged pituitary gland, Hypogonadotropic hyp... ORPHA:2495
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Delayed puberty OMIM:301900
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Limb ataxia, Macular degeneration, Progressive gait ataxia, Progressive cerebellar ata... ORPHA:284289
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Prominent nasal tip, Nail-biting, Pain insensitivity, Small scrotum, Optic nerve hypoplasia, Aggr... OMIM:620330
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Edema, Diarrhea, Hepatic failure, Renal cyst, Proximal tubulopathy, Vomiting, Hepat... OMIM:602579
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Diarrhea, Tongue thrusting, Limb tr... OMIM:608643
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Joubert Syndrome 37
Hepatomegaly, Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, Obesity, Decreased ... OMIM:619185
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Bowel incontinence, Optic atrophy, Choreoathetosi... ORPHA:702
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Depressed nasal bridge, Obesity, Pseudohypoparathyroidism OMIM:612463
Weaver Syndrome
Inguinal hernia, Depressed nasal bridge, Cryptorchidism, Hydrocele testis, Overgrowth, Camptodact... OMIM:277590
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Short nose ORPHA:2429
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... OMIM:603553
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Urinary incontinence... OMIM:268800
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Cryptorchidism, Obesity, Vesicoureteral reflux, Hyposmia, Micropenis, Pelvic kid... OMIM:618653
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Aural Atresia, Congenital
Hyposmia OMIM:607842
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Abnormality of the sense of smell ORPHA:3201
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens,... ORPHA:93111
H Syndrome
Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Recurrent pharyngitis, Hepatosplenomegaly... ORPHA:168569
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... ORPHA:206443
Charge Syndrome
Depressed nasal bridge, Facial palsy, Choanal atresia, Hypogonadotropic hypogonadism, Cryptorchid... ORPHA:138
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Hemochromatosis, Type 4
Hepatomegaly, Impotence, Hepatic steatosis, Cirrhosis OMIM:606069
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Chronic diarrhea, Elevated circulating alanine aminot... OMIM:618805
15Q24 Microdeletion Syndrome
Depressed nasal bridge, Prominent nasal bridge, Small for gestational age, Decreased response to ... ORPHA:94065
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A... ORPHA:1454
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity, Cryptorchidism ORPHA:2377
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy, Ataxia, Wide nasal bridge OMIM:610127
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism, Delayed puberty OMIM:619718
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Depressed nasal bridge, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites, P... OMIM:608776
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Dystonia, Abn... ORPHA:96
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Increased body weight, Hyperhidrosis, Agitation, Pancreatic islet-cell hyperplasia ORPHA:276608
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Depressed nasal bridge, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Ren... OMIM:231680
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Tremor, Diar... ORPHA:263455
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Uterus didelphys, Abnormality of the s... ORPHA:958
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Blepharospasm, Retinal degeneration OMIM:604290
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose, Obesity OMIM:611936
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Inguinal hernia, Methioninuria, Depression, Disproportionate tall stature, Fai... OMIM:236200
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Aplasia... OMIM:603457
Summitt Syndrome
Obesity OMIM:272350
Waardenburg Syndrome, Type 4C
Hypogonadism, Cryptorchidism, Anosmia, Aganglionic megacolon OMIM:613266
Clark-Baraitser syndrome
Anteverted nares, Broad nasal tip, Obesity, Macroorchidism, Tall stature OMIM:300602
Arima Syndrome
Hepatomegaly, Retinal dystrophy, Ataxia, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic ki... OMIM:243910
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Depressed nasal bridge, H... OMIM:118450
48,Xxxy Syndrome
Renal dysplasia, Hypoplasia of penis, Small scrotum, Inguinal hernia, Abnormal dental enamel morp... ORPHA:96263
Renal Hypoplasia, Bilateral
Small for gestational age, Proteinuria, Edema, Microscopic hematuria, Cryptorchidism, Chronic kid... ORPHA:97362
Verheij Syndrome
Anteverted nares, Small for gestational age, Optic nerve hypoplasia, Broad nasal tip, Renal agene... OMIM:615583
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... ORPHA:309246
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Broad nasal tip, Recurrent upper respiratory tract infections, F... ORPHA:284180
Pseudohypoparathyroidism, Type Ia
Depressed nasal bridge, Obesity, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:103580
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Hypergonadotropic hypogonadism, Tremor, Retrobul... OMIM:619737
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Abnormal cho... ORPHA:912
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Flexion contracture, Macu... OMIM:270200
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Cryptorchidism... OMIM:300882
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... ORPHA:96179
Chromosome 16P13.3 Deletion Syndrome, Proximal
Prominent nose, Obesity, Polysplenia, Failure to thrive, Convex nasal ridge, Low hanging columella OMIM:610543
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Head titubation, Retinal atrophy, Retinal dystrophy, Ataxia ORPHA:370022
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Developmental And Epileptic Encephalopathy 28
Anteverted nares, Optic atrophy, Retinal degeneration OMIM:616211
Radio-Tartaglia Syndrome
Anteverted nares, Depressed nasal bridge, Impulsivity, Aggressive behavior, Prominent nasal bridg... OMIM:619312
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Renal cyst, Opisthotonus, ... ORPHA:445038
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Cryptorchidism, Bulbous nose, Abdomin... OMIM:300354
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Anteverted nares, Bowel incontinence, Aggr... ORPHA:261494
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Impa... ORPHA:320406
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Macrocephaly/Autism Syndrome
Hepatomegaly, Depressed nasal bridge, Large for gestational age, Splenomegaly, Obesity, Hydrocele... OMIM:605309
Joubert Syndrome 7
Retinal dystrophy, Ataxia, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Urinary incontinence, Abnormal cranial nerve morphology, Gait ataxia, Mac... ORPHA:247234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Increased muscle lipid content, Knee flexion contracture, Vomiting, Macrove... OMIM:608836
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Joubert Syndrome 8
Optic disc pallor, Hepatomegaly, Obesity, Pigmentary retinopathy, Prolonged neonatal jaundice OMIM:612291
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Oligohydramnios ORPHA:3316
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... OMIM:613070
Joubert Syndrome 16
Retinal dystrophy, Renal cyst, Nephronophthisis OMIM:614465
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Abnormal circulating fatty-acid concentration, Enla... ORPHA:2298
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspa... OMIM:614866
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Retinal dystrophy, Obesity ORPHA:464282
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Optic atrophy, Focal... ORPHA:52368
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Wide nose, Camptodactyly of finger, Underdeveloped nasal alae, Cryptorchidis... ORPHA:284160
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Tremor, Overweight, Self-mutilation, Depre... ORPHA:457240
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen... ORPHA:1834
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Wide nose, Anteverted nares, Obesity, Aggressive behavior OMIM:619056
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Polyhydramnios, Tremor, Bulbous nose, Flexion contracture, Dehydration, Opisthotonus, Cho... OMIM:616271
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Cockayne Syndrome A
Prominent nose, Tremor, Micropenis, Loss of facial adipose tissue, Hepatomegaly, Retinal atrophy,... OMIM:216400
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Broad nasal tip, Bulbous nose, Self-mutilation, Truncal obes... ORPHA:3041
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Prominent nasal bridge, Prominent nose ORPHA:3270
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn... ORPHA:139507
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular ac... OMIM:614922
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Optic atrop... OMIM:261680
Reni Syndrome
Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency, Hypogonadism, Hypot... OMIM:617575
Alport Syndrome
Mesangial hypercellularity, Macular degeneration, Vomiting, Nephritis, Tubulointerstitial fibrosi... ORPHA:63
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Palpebral edema, Cryptorchidism, Jaundice, Optic n... OMIM:214110
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Rotor Syndrome
Bilirubinuria, Jaundice, Intermittent jaundice, Porphyrinuria, Storage in hepatocytes ORPHA:3111
Urban-Rogers-Meyer Syndrome
Prominent nasal bridge, Camptodactyly of finger, Cryptorchidism, Obesity, Hypogonadism, Flexion c... ORPHA:3409
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Anteverted nares, Depressed nasal bridge, Prominent nos... OMIM:617796
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Cockayne Syndrome
Urinary incontinence, Progressive gait ataxia, Retinal arteriolar constriction, Gastroesophageal ... ORPHA:191
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Chorea, Optic atro... ORPHA:309271
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Prom... OMIM:216550
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Scheie Syndrome
Wide nose, Depressed nasal bridge, Retinal degeneration OMIM:607016
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Optic atrophy, Renal tubular dysfunction, P... OMIM:220110
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Aggressive behavior, Abnormal neuron morphology, Precocious puberty,... ORPHA:163681
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Anteverted nares, Abnormality of the endocrine system, Cryptorchidism, Depressed nasal ridge, Obe... ORPHA:464288
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Dystonia, Ataxia, Urinary incontinence, Retinal degeneration, Tremor, Optic atroph... OMIM:234200
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Decreased serum insu... ORPHA:77293
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Dysmetria, Dysdiadochokinesis, Truncal ataxia... ORPHA:228360
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, ... ORPHA:1166
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Recurrent upper respiratory tract infections,... OMIM:618183
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Neoplasm of the pancreas, Premature ovarian ins... ORPHA:2959
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Agitation, Abnormal autonomic nervous system physiology... ORPHA:778
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomeg... OMIM:619802
White-Sutton Syndrome
Hyperactivity, Failure to thrive, Depressed nasal bridge, Optic nerve hypoplasia, Congenital diap... OMIM:616364
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Macular degeneration, Choroidal neovascularization, Dystonia ORPHA:404451
Charge Syndrome
Hypoparathyroidism, Omphalocele, Hypogonadotropic hypogonadism, Facial palsy, Choanal atresia, De... OMIM:214800
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Polyhydramnios, Underdeveloped nasal alae, Congenital diaphragmatic hernia, Flexion ... OMIM:263210
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropathy, Nausea, Decreased g... ORPHA:85450
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Monosomy 13Q34
Metrorrhagia, Epistaxis, Prominent nasal bridge, Broad nasal tip, Prominent nose, Fetal pyelectas... ORPHA:96168
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
X-Linked Intellectual Disability, Stevenson Type
Thick nasal alae, Broad columella, Tall stature, Obesity ORPHA:85325
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ... ORPHA:699
Meckel Syndrome, Type 8
Pericardial effusion, Depressed nasal ridge, Polycystic kidney dysplasia, Ambiguous genitalia, Sh... OMIM:613885
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... OMIM:617093
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H... ORPHA:470
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Depressed nasal bridge, Impaired pain sensation, Cryptorchidism, Bulimia, Recu... ORPHA:314389
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Flexion contracture of finger, Hypospadias, Small for gest... ORPHA:464311
Abetalipoproteinemia
Impaired vibratory sensation, Abnormality of retinal pigmentation, Failure to thrive, Hepatic ste... ORPHA:14
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Scarring, Hepatocellular carcinoma, Portal inflam... ORPHA:101330
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, P... OMIM:256040
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the t... ORPHA:400
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Anteverted nares, Aggressive behavio... OMIM:213300
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Truncal obesity, Concave nasal ridge, Hypogonadism, Att... ORPHA:73272
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration, Opisthotonus OMIM:616896
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:618736
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Griscelli Syndrome Type 1
Hyperlipidemia, Retinopathy ORPHA:79476
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Bulbous nose, Obesity ORPHA:85286
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Inguinal hernia, Facial palsy, Optic nerve hypoplasia, Prominent na... ORPHA:261349
Adrenomyodystrophy
Primary adrenal insufficiency, Megacystis, Abnormality of the urinary system, Failure to thrive, ... ORPHA:977
Lead Poisoning
Somatic sensory dysfunction, Decreased female libido, Small for gestational age, Abnormality of t... ORPHA:330015
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia... ORPHA:309263
Rhizomelic Limb Shortening With Dysmorphic Features
Wide nasal bridge, Obesity OMIM:618821
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, ... ORPHA:79474
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Hepatomegaly, Micronodular cirrhosis, Corneal scarring,... ORPHA:404454
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Moebius Syndrome
Hypogonadotropic hypogonadism, Facial palsy, Abnormality of the sense of smell, Dysphagia, Arthro... ORPHA:570
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Congenital hepatic fib... ORPHA:2031
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
White-Sutton Syndrome
Ventral hernia, Hyperactivity, Inguinal hernia, Depressed nasal bridge, Congenital diaphragmatic ... ORPHA:468678
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Abnormal dental enamel mo... ORPHA:816
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosp... ORPHA:275761
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Hypogonadism, Obesity ORPHA:2233
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Tics, Vomiting, Compulsive behaviors, Chorioretinal coloboma, Micropenis, Decrease... OMIM:619475
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Anteverted nares, Ataxia, Depressed nasal bridge, Large for gestational age, H... OMIM:615398
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Increased urinary copper concentration, Copper accumulation in liver, Cirrhosis ORPHA:209919
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Wide nasal bridge, Increas... OMIM:270450
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Trisomy 13
Abnormal retinal vascular morphology, Cryptorchidism, Optic atrophy, Hydrops fetalis, Abnormality... ORPHA:3378
Megalencephaly
Macroorchidism, Truncal obesity, Wide nasal bridge ORPHA:2477
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Tatton-Brown-Rahman Syndrome
Aggressive behavior, Cryptorchidism, Obesity, Short columella, Proportionate tall stature, Umbili... ORPHA:404443
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Optic nerve hypoplasia, Large for gestational age, Broad nasal tip, Ov... ORPHA:137634
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Trisomy 5P
Obesity ORPHA:1742
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria... OMIM:610205
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Chorea, Irritability, Joint contracture, Fa... OMIM:617864
2Q37 Microdeletion Syndrome
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Underdeveloped nasal a... ORPHA:1001
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal mitochondrial shape, Hypospadias, Aggressiv... ORPHA:17
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Occipital Horn Syndrome
Recurrent urinary tract infections, Inguinal hernia, Gastroparesis, Femoral hernia, Scarring, Hia... ORPHA:198
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Elevated circu... OMIM:618528
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Obesity, Choreoathetosis, Gastroes... ORPHA:261197
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Opisthotonus, Acute hepatic steatosis, Vomiting, Elevated urinary 3-methylcrotonylglyc... OMIM:210200
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Chorioretinal c... ORPHA:2563
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Left ve... OMIM:615418
Campomelic Dysplasia
Depressed nasal bridge, Male pseudohermaphroditism, Abnormality of the sense of smell, Ambiguous ... ORPHA:140
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... ORPHA:98908
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Depressed nasal bridge, Optic atrophy, Abnormality of visual evoked potentials, Fai... ORPHA:2971
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Papilledema, Bilateral cryptorchidism, Obesity, Male hypogonadism,... OMIM:619471
Momo Syndrome
Overgrowth, Retinal coloboma, Wide nasal bridge, Obesity OMIM:157980
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... ORPHA:90041
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Prominent nose, Cryptorchidism, Obesit... ORPHA:439822
Multiple Sulfatase Deficiency
Hepatomegaly, Anteverted nares, Ataxia, Periorbital edema, Splenomegaly, Mucopolysacchariduria, R... OMIM:272200
Trisomy 1Q
Omphalocele, Wide nose, Small scrotum, Depressed nasal bridge, Multicystic kidney dysplasia, Poly... ORPHA:261344
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Depressed nasal ridge, Gastroesophageal reflux, Hypothyroidism, Self-mutilation, ... OMIM:607872
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:616034
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Canavan Disease
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy, Gastroesophageal reflux,... ORPHA:141
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Narrow nasal ... OMIM:608612
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum OMIM:619517
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Pancr... ORPHA:2869
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Anteverted nares, Depressed nasal bridge, Large for gestational age, Overgrowth,... OMIM:618272
Phelan-Mcdermid Syndrome
Palpebral edema, Abnormality of the kidney, Impaired pain sensation, Aggressive behavior, Lymphed... OMIM:606232
Methanol Poisoning
Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus, Abnormal optic nerve morphology... ORPHA:31825
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Rod... OMIM:615989
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressiv... ORPHA:309256
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Anteverted nares, Cryptorchidism, Hypop... ORPHA:2510
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Nephroblast... ORPHA:143
Chédiak-Higashi Syndrome
Hyponatremia, Abnormality of retinal pigmentation, Elevated hepatic transaminase, Hypertriglyceri... ORPHA:167
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Abnormality of visual e... ORPHA:320401
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Diarrhea, Hepatic ne... ORPHA:71212
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Edema, Renal cyst, Macular degeneration, Hepatic fibrosis, Nep... OMIM:266920
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Hyperlipidemia, Chorioretinitis, Overgrowth ORPHA:199276
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... ORPHA:79445
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Epistaxis, Hypothyroidism, Hyperlipidemia,... ORPHA:79259
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Underdeveloped nasal alae, Patchy atrophy of the retinal pigment epithelium, Undetectable visual ... ORPHA:436245
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatomegaly, Optic atrophy, Wide nasal bridge, Renal cyst, Hepatic fibrosis, Cirr... OMIM:601539
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Large for gestational age, Birth length g... ORPHA:314588
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... OMIM:613390
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... OMIM:201450
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Abnormality of glycolipid metabolism, Precocious puberty,... ORPHA:845
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy, Hyperhidrosis OMIM:609541
Joubert Syndrome 18
Camptodactyly, Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney OMIM:614815
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Small scrotum, Anteverted nares, Depressed nasal bridge, Prominent ... OMIM:618454
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Amoebiasis Due To Free-Living Amoebae
Restlessness, Ataxia, Facial palsy, Irritability, Intrarenal abscess, Vomiting, Hyposmia, Nausea,... ORPHA:68
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Mucopolysaccharidosis Type 3
Adenoiditis, Flexion contracture, Thick nasal alae, Retinal degeneration, Hepatomegaly, Hyperacti... ORPHA:581
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Necrotizing enterocolitis, Dicarboxylic aciduria, Hepatomegaly, Exercise-induc... OMIM:201475
Carpenter Syndrome 1
Omphalocele, Depressed nasal bridge, Precocious puberty, Cryptorchidism, Optic atrophy, Obesity, ... OMIM:201000
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Resting tremor OMIM:607060
Marbach-Schaaf Neurodevelopmental Syndrome
Depressed nasal bridge, Broad nasal tip, Aggressive behavior, Obesity, Attention deficit hyperact... OMIM:619680
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Neurogenic bladder, Dysmetria, Dysphagia OMIM:619780
Joubert Syndrome 14
Ataxia, Prominent nasal bridge, Morning glory anomaly, Optic atrophy, Renal cyst, Irritability OMIM:614424
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Depressed n... OMIM:261515
Joubert Syndrome 2
Renal insufficiency, Ataxia, Retinal dystrophy, Depressed nasal bridge, Optic disc coloboma, Rena... OMIM:608091
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Wide nose, Proteinuria, Splenomegaly, Flexion contracture, Optic atrophy, Wide nasa... OMIM:617303
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Urina... ORPHA:52430
Cockayne Syndrome Type 3
Flexion contracture, Gastroesophageal reflux, Retinal degeneration, Intention tremor, Hepatomegal... ORPHA:90324
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Optic atrophy, Abnormal retinal nerve fiber layer mo... ORPHA:1215
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Heparan... OMIM:607014
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Camptodactyly of finger ORPHA:2928
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Aggressive behavior, Obesity, Wide nasal bridge, Overgrowth, Short nose OMIM:620250
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Macular coloboma, Hemolytic-uremic syndro... ORPHA:79282
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Depressed nasal bridge, Choanal atresia, Portal hypertension, Hiatus hernia, Pancre... OMIM:610199
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Depressed nasal bridge, Elevat... OMIM:619127
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Macular scar, Hypercalciuria, Angioid streaks of the fun... OMIM:239000
Vacterl/Vater Association
Bifid scrotum, Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal... ORPHA:887
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Femoral-Facial Syndrome
Inguinal hernia, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of k... ORPHA:1988
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Prominent nose, Aggressive beh... ORPHA:85293
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Chorea, Opisthotonus, Dystonia, Failure to thrive OMIM:616672
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal arteriolar tortuosity, Retinal hemorrhage, Renal cyst, Hematuria OMIM:611773
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia, Decreased nerve conduction velocity, Methylmalonic aciduria, Aminoaciduria, Abn... ORPHA:1933
Mogs-Cdg
Absent brainstem auditory responses, Wide nose, Pulmonary edema, Hepatomegaly, External genital h... ORPHA:79330
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Renal cyst OMIM:231060
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:616602
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Convex nasal ridge, Flexion contracture, Optic atrophy... OMIM:619321
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Wide nasal bridge, Polycystic kidney dysplasia OMIM:614859
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618089
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Multiple joint contractures, Hypospadias, Small for gestational... ORPHA:464306
Down Syndrome
Depressed nasal bridge, Aganglionic megacolon, Depressed nasal ridge, Obesity, Type II diabetes m... ORPHA:870
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Underdeveloped nasal alae, Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Rod-... OMIM:250410
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... OMIM:619313
Alveolar Echinococcosis
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery mor... ORPHA:284
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Diaphanospondylodysostosis
Inguinal hernia, Nephrogenic rest, Depressed nasal bridge, Increased nuchal translucency, Depress... OMIM:608022
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Abetalipoproteinemia
Ataxia, Retinopathy, Retinal degeneration OMIM:200100
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Depressed nasal bridge, Elbow flexion contracture, Optic atrophy, Obesity OMIM:618493
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hep... ORPHA:541423
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Choanal atresia, Cryptorchidism, Anosmia, Dysphagia, Enamel hy... ORPHA:2363
Gracile Syndrome
Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentration, Hepatic stea... ORPHA:53693
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Depressed nasal bridge, Anteverted nares, Flexion ... OMIM:617301
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Hypogonadotropic hypogonadism, Obesity OMIM:600955
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Wide nose, Multicystic kidney dysplasia, Hypospadias, Small for gestational age, A... OMIM:257300
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Secretory diarrhea, Grade II vesicoureteral reflux... OMIM:619377
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Ataxia, Pancreatic fibrosis, Achilles tendon contracture, Dysmet... OMIM:616263
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... OMIM:601455
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Anteverted nares, Prominent nasal bridge, Obesity, Compulsive behaviors OMIM:618443
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Nephroblast... ORPHA:99880
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Depressed nasal bridge, Aggressive behavior, Increased body weight, Horseshoe kidney, Self-injuri... OMIM:300860
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... OMIM:145001
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Chorea, Truncal ataxia, Hepatic steatosis ORPHA:369840
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Congenital diaphragmatic hernia, Cryptorchidism, Wide nasal bridge, Obesi... ORPHA:251071
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... OMIM:608800
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Renal cyst, Gastroesophageal reflux, Vesicourete... OMIM:122470
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra... OMIM:277460
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Depressed nasal bridge, Hypercalcemia, Precocious puber... ORPHA:369837
Mucopolysaccharidosis Type 2
Abnormal repetitive mannerisms, Retinal degeneration, Oppositional defiant disorder, Papilledema,... ORPHA:580
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Inguinal hernia, Splenomegaly, Depressed nasal ridge, Limb ataxia, Gait ataxia, Ret... OMIM:248500
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Depressed nasal bridge, Glutaric... ORPHA:26791
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Restless legs, Somatic sensory dysfunction, Ataxia, Abnormal fundus morp... ORPHA:94147
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Oligohydramnios OMIM:615397
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Secondary amenorrhea, Renal cyst, Self-injuriou... ORPHA:488618
Tuberous Sclerosis Complex
Hyperactivity, Renal insufficiency, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavio... ORPHA:805
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Tremor, Chorea, Truncal ataxia, Athetosis, E... OMIM:615356
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Promi... ORPHA:193
Baralle-Macken Syndrome
Obesity OMIM:619255
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Global glomerulosclerosis, Retinal dystrophy, Macular atrophy,... OMIM:616307
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Polysyndactyly With Cardiac Malformation
Renal cyst, Anteverted nares, Hepatic cysts, Polyhydramnios OMIM:263630
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Ataxia, Cholangitis, Rod-cone dystrophy, Microvesicular hepatic st... OMIM:124000
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorch... OMIM:616541
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Corneal scarring, Pigmentary retinopathy, Joi... OMIM:618460
Blue Diaper Syndrome
Elevated hepatic transaminase, Diarrhea, Increased body weight, Nephrocalcinosis, Blue urine, Dec... ORPHA:94086
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Male ... ORPHA:2075
Carpenter Syndrome
Cryptorchidism, Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Impaired temperature sensation, Dysesthesia, Xerostomia,... ORPHA:353253
Wagr Syndrome
Cryptorchidism, Obesity ORPHA:893
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Vomiting, Gastroesophageal reflux, Micropenis, Hepatic ... OMIM:270400
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Edema, Anorex... ORPHA:20
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Depressed nasal bridge, Camptodactyly of finger, Polyhydramnios, C... ORPHA:1692
Aicardi-Goutieres Syndrome 7
Hepatic steatosis, Atrophic gastritis, Hepatomegaly, Edema, Pericardial effusion, Hematemesis, Di... OMIM:615846
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Inguinal hernia, Large for gestational age, Pedal edema, Renal cyst, Overgrowt... OMIM:617107
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Dehydration, Renal cyst, Nephrocalc... ORPHA:18
Metachromatic Leukodystrophy
Ataxia, Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Tremor, Ne... ORPHA:512
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Edema of the dorsum of feet, Edema of the dorsum of hands, Optic at... ORPHA:521426
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... OMIM:614527
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Ataxia, Ac... OMIM:203700
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentia... OMIM:256600
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... OMIM:614300
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Lack of facial subcutaneous fat, Decreased serum leptin, Underdeveloped nasa... OMIM:614098
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Prominent nasal bridge, Precocious puberty, Obesity, Type I diabetes mellitus, Retinopathy, Denti... OMIM:619269
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Obesity OMIM:616562
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Multiple lipomas, Renal cyst OMIM:135150
Meckel Syndrome, Type 10
Hypospadias, Malformation of the hepatic ductal plate, Renal cyst, Camptodactyly, Micropenis OMIM:614175
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Hydrops fetalis, Renal cyst, Renal hypoplasia, Hepatic fibrosis, Polycystic kidney d... OMIM:614091
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Hypothyroidism, Hyperhidrosis ORPHA:3198
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a... OMIM:229300
Kleefstra Syndrome 1
Anteverted nares, Aggressive behavior, Cryptorchidism, Obesity, Compulsive behaviors, Abnormal re... OMIM:610253
Chanarin-Dorfman Syndrome
Hepatomegaly, Ataxia, Hepatic steatosis OMIM:275630
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Cockayne Syndrome B
Tremor, Micropenis, Loss of facial adipose tissue, Hepatomegaly, Ataxia, Cryptorchidism, Renal in... OMIM:133540
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epitheli... ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Depressed nasal bridge, Aggressive behavior, Precocious puberty, Obesity, Hepatospl... OMIM:301066
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Ascites, Hypoalbuminemia OMIM:603278
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... OMIM:219800
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Diarrhea, Irritability, ... ORPHA:348
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Camptodactyly of finger, Polyhydramnios, Asplenia, Cryptorc... ORPHA:99776
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Inguinal hernia, Anteverted nares, Femoral hernia, Cryptorchidism, Obesity, Sh... ORPHA:96147
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile duct morpholo... ORPHA:731
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Recurrent upper r... ORPHA:333
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obesity, Constipation,... ORPHA:98794
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... OMIM:614817
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Vomiting, Elevated hepatic iron concentrat... OMIM:619991
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Hepatic steatosis, ... ORPHA:3455
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Irritability, Hepatic steatosis OMIM:212138
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, 3-Methylglutaconic... OMIM:618329
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight, Depression, Increased circulating cortisol level, P... OMIM:615830
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Failure to thrive, H... ORPHA:99901
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Edema, Optic atrophy, Congenital hypothyroidism, Contractures of th... OMIM:617527
Joubert Syndrome 39
Pain insensitivity, Retinal dystrophy, Overweight, Joint contracture of the 5th finger, Polycysti... OMIM:619562
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Polyhydramnios, Large for gestati... OMIM:229850
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Short nose, Cachexia ORPHA:1389
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hip contracture, Hepatomegaly, Bilateral fetal pyelectasis, Antever... OMIM:300868
Sotos Syndrome
Anteverted nares, Depressed nasal bridge, Abnormality of the kidney, Aggressive behavior, Broad n... OMIM:117550
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Agenesis of corpus callosu... ORPHA:79243
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Anteverted nares, Renal agenesis, Bulbous nose... OMIM:220500
Adiposis Dolorosa
Diarrhea, Xerostomia, Obesity, Depression, Paresthesia, Constipation, Hypothyroidism ORPHA:36397
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Anteverted nares, Depressed nasal bridge, Polyhydramnios, ... OMIM:614080
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep... OMIM:615415
Ruvalcaba Syndrome
Inguinal hernia, Cryptorchidism, Abnormal localization of kidney, Hematuria, Abnormality of visua... ORPHA:3121
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Vomiting, Macrovesicular hepatic steatosis OMIM:600649
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Depressed nasal bridge, Anteverted nares, Obesity, Underdeveloped nasal alae OMIM:608624
Trisomy 20P
Inguinal hernia, Anteverted nares, Hypospadias, Abnormality of the kidney, Camptodactyly of finge... ORPHA:261318
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Depressed nasal bridge, Aggressive behavior, Broad nasal tip, Bulbous nose, Wide nasal bridge, Ob... ORPHA:466950
Ogden Syndrome
Lymphedema, Microvesicular hepatic steatosis, Vomiting, Macrovesicular hepatic steatosis, Abnorma... OMIM:300855
Pallister-Hall Syndrome
Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Anteverted nares, Depressed n... OMIM:146510
Chops Syndrome
Anteverted nares, Splenomegaly, Cryptorchidism, Optic atrophy, Obesity, Short nose OMIM:616368
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
1P21.3 Microdeletion Syndrome
Broad nasal tip, Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior,... ORPHA:293948
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:158048
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614874
Trichothiodystrophy
Multiple joint contractures, Cryptorchidism, Absence of subcutaneous fat, Gait ataxia, Macular de... ORPHA:33364
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Gastroparesis, Abnormality of the... ORPHA:85443
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Attention ... OMIM:301039
Desbuquois Dysplasia 1
Short nose, Concave nasal ridge, Depressed nasal bridge, Obesity OMIM:251450
Joubert Syndrome 21
Ataxia, Splenomegaly, Optic atrophy, Megalopapilla, Single naris, Renal cyst, Dysphagia, Hyperech... OMIM:615636
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:177907
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Midline defect of the nose, Midline central nervous syst... ORPHA:1993
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Myoglobinuria, Hepatic steatosis OMIM:231530
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Dysesthesia, Optic atrophy, Limb ataxia, Gait ataxia, Depression, 3-Methylglutaconic acid... OMIM:619259
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Long nose, Cryptorchidism, Failure to thrive ORPHA:2115
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Multicystic kidney dysplasia, Polyh... ORPHA:3301
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Depressed nasal ridge, Micropenis, Hypopl... OMIM:151100
Genitopatellar Syndrome
Hip contracture, Wide nose, Small scrotum, Multicystic kidney dysplasia, Prominent nasal bridge, ... ORPHA:85201
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Portal hypertension, Pa... OMIM:267010
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Flexion contracture OMIM:618201
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Arm dystonia, Retinal degeneration ORPHA:79244
Floating-Harbor Syndrome
Long nose, Renal cyst, Nephrocalcinosis, Gastroesophageal reflux, Compulsive behaviors, Hypospadi... ORPHA:2044
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Trisomy 17P
Wide nose, Hypoplasia of penis, Urethral valve, Prominent nose, Urethral stenosis, Flexion contra... ORPHA:261290
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent sinusitis, Nasal congestion OMIM:300991
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella OMIM:620197
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ... ORPHA:91355
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Distal Deletion 12Q
Hyperactivity, Unilateral cryptorchidism, Failure to thrive in infancy, Anteverted nares, Impaire... ORPHA:96149
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Chronic diarrhea... ORPHA:500055
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep... ORPHA:228305
Ciliary Dyskinesia, Primary, 45
Male infertility, Chronic rhinitis, Absent inner and outer dynein arms OMIM:618801
Postorgasmic Illness Syndrome
Abnormality of the nose, Xerostomia, Hyperhidrosis, Depression, Irritability ORPHA:279947
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Lymphedema, Pancreatic cysts, Abnormality of the panc... ORPHA:1318
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disea... OMIM:612284
Campomelia, Cumming Type
Polycystic liver disease, Lymphedema, Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia OMIM:211890
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Pigmentary retinopathy, Diffuse he... ORPHA:746
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... OMIM:613095
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi... ORPHA:261265
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Hepatic steatosis, Recurrent urinary tract infections, Small scrot... OMIM:613658
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Depressed nasal bridge, Anteverted nar... OMIM:264090
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Decreased body weight, Obesity, Dysphagia ORPHA:589821
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, Midline central nervous system lipomas OMIM:155145
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Macular atrophy, Nasal congestion, Rod-cone dystrophy, Reduced sperm motility OMIM:615434
Achondroplasia
Depressed nasal bridge, Short nasal bridge, Anteverted nares, Obesity ORPHA:15
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Depressed nasal bridge, Broad nasal tip, Hydrops fetalis, Hepatospl... ORPHA:79255
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Neurogenic bladder, Ataxia, Tremor, Xerostomia, Dysmetria OMIM:618527
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Aganglionic megacolon, Anteverted nares, Hypospadias, ... ORPHA:2059
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Ramos-Arroyo Syndrome
Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Absent retinal pigment epitheliu... ORPHA:1051
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of th... ORPHA:480520
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Hydronephrosis OMIM:620327
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Ch... OMIM:307030
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Cerebrotendinous Xanthomatosis
Hypothyroidism, Ataxia, Chronic diarrhea, Depression, Somatic sensory dysfunction, Abnormal audit... ORPHA:909
Focal Dermal Hypoplasia
Narrow nasal bridge, Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Acute hepatic fa... ORPHA:2092
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Diabetes mellitus, Anteverted nares, Cryptorchidism, Jaundice, Opt... OMIM:614231
Tuberous Sclerosis 1
Dental enamel pits, Precocious puberty, Renal cyst, Achromatic retinal patches, Renal cell carcin... OMIM:191100
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Optic atrophy, Adrenocorti... OMIM:231550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Retinal degeneration OMIM:615249
Turner Syndrome Due To Structural X Chromosome Anomalies
Lymphedema, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, H... ORPHA:99413
Mosaic Monosomy X
Lymphedema, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, H... ORPHA:99228
Monosomy X
Lymphedema, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, H... ORPHA:99226
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Turner Syndrome
Lymphedema, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, H... ORPHA:881
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Dehydration, Oligosacchariduria, Nephrocalcinosis, ... ORPHA:534
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
22Q11.2 Deletion Syndrome
Polyhydramnios, Gastroesophageal reflux, Abnormality of the uterus, Vesicoureteral reflux, Hypoth... ORPHA:567
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Beckwith-Wiedemann Syndrome
Ureteral duplication, Polyhydramnios, Large for gestational age, Congenital diaphragmatic hernia,... ORPHA:116
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation ORPHA:135
Congenital Disorder Of Glycosylation, Type If
Ataxia, Flexion contracture, Optic atrophy, Renal cortical cysts, Failure to thrive OMIM:609180
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... ORPHA:1435
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Lipoid Proteinosis
Nasal polyposis, Scarring, Dysphagia ORPHA:530
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Anteverted nares, Choanal atresia, Cryptorchidism, Bulbous nose, Optic atrophy, Rena... OMIM:616975
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Elevated h... OMIM:229600
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Wide nose, Membranoproliferative glomerulonephritis,... OMIM:619525
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:617751
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop... ORPHA:485421
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity ORPHA:93952
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Anteverted nares, Wide nasal bridge, Camptodactyly, Enamel hypoplasia OMIM:619980
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Delayed puberty, Xanthelasma, Hyperu... OMIM:232200
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep... OMIM:619229
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Retinal hamartoma, Renal c... OMIM:613254
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Oli... OMIM:100100
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... OMIM:613843
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty, Short nose, Convex nasal ... ORPHA:90154
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, D... OMIM:232220
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response, GM2-ganglioside accumulation OMIM:272800
Bloom Syndrome
Small for gestational age, Prominent nose, Decreased fertility in females, Cryptorchidism, Recurr... OMIM:210900
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia, Polyhydramnios OMIM:618598
Stiff-Person Syndrome
Hyperhidrosis, Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal nasal morphology, Truncal obesity ORPHA:3224
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Obesity, Increased circulating ACTH level, Hypokalemia, Abdominal obesity OMIM:219090
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ... ORPHA:31150
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Wide nose, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, ... OMIM:616078
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Menometrorrhagia, Epistaxis, Anorexia, Abnormal... ORPHA:79430
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f... OMIM:611126
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Abnor... ORPHA:564
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Chronic diarrhea, El... OMIM:616433
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Anteverted nares, Aggressive behavior, Depressed nasal bridg... ORPHA:495875
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, 4-hydroxyphenylacetic aciduria, Polyhydramnios,... OMIM:617156
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Dehydration, Gastrointestinal inflammation, Renal cyst, Aplasia/Hypopl... ORPHA:79404
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice ORPHA:79477
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size OMIM:610644
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Gastroesophageal reflux, Depression OMIM:620114
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Chronic rhinitis, Recurrent sinusitis OMIM:612444
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Hypospadias, Ataxia, Small for gestational age, Anteverted nares, Tre... OMIM:220111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Prominent nose, Flexion con... OMIM:619503
Bohring-Opitz Syndrome
Retinal atrophy, Anteverted nares, Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Bila... ORPHA:97297
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Constipation, Fetal megacystis ORPHA:73246
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test OMIM:609053
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, Anteverted nares, Broad nasal tip, Underdeveloped nasal ala... ORPHA:438216
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Decreased serum leptin, Flexion contracture, Failure to thrive, Convex nasal ridge OMIM:614008
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... OMIM:618733
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Gastroesophageal refl... OMIM:615574
Trisomy 10P
Absent gallbladder, Small for gestational age, Anteverted nares, Abnormal auditory evoked potenti... ORPHA:171929
Syndromic Diarrhea
Hepatomegaly, Inguinal hernia, Small for gestational age, Gastritis, Hepatoblastoma, Splenomegaly... ORPHA:84064
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Xerostomia, Depression, Agitation, Emotional... ORPHA:803
Webb-Dattani Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:615926
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Camptodactyly of toe, Decreased testicular size ORPHA:127
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Short nose, Ascite... OMIM:200995
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Aggressive behavior, Broad nasal tip, Bulbous nose, Wide nasal bridge, Ob... ORPHA:466943
Perlman Syndrome
Nephrogenic rest, Depressed nasal bridge, Renal hamartoma, Edema, Large for gestational age, Poly... OMIM:267000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Ventriculomegaly OMIM:618291
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Overgrowth OMIM:300607
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Pseudob... OMIM:125310
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy, Dystonia OMIM:616875
Ciliary Dyskinesia, Primary, 19
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:614935
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of... OMIM:264800
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Retinal degeneration ORPHA:542306
Complete Androgen Insensitivity Syndrome
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... ORPHA:99429
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle ORPHA:544488
Kaposiform Lymphangiomatosis
Metrorrhagia, Epistaxis, Pericardial effusion, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly... ORPHA:464329
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Polyhydramnios, Congenital diaphragmatic hernia, Hepat... ORPHA:373
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, GM2-ganglioside accumulation, Dystonia OMIM:272750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Conge... OMIM:236670
Schinzel-Giedion Syndrome
Inguinal hernia, Streak ovary, Aganglionic megacolon, Hypospadias, Failure to thrive in infancy, ... ORPHA:798
Say-Barber-Miller Syndrome
Prominent nasal bridge, Broad nasal tip, Cryptorchidism, Optic atrophy, Elbow flexion contracture... ORPHA:3132
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atro... ORPHA:2785
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated uri... ORPHA:892
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... ORPHA:157
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Obesity, Premature ad... ORPHA:813
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Depressed nasal bridge, Renal cyst OMIM:614862
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Polyhydramnios, Congenital diaphragmatic hernia, Gastroesophageal reflux, Mu... ORPHA:818
Shox-Related Short Stature
Obesity ORPHA:314795
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Multiple renal cysts, Retinal dysplasia, Polyhydramnios ORPHA:1190
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Female pseudohermaphrodit... ORPHA:2973
Hyperekplexia 3
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614618
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Choanal... ORPHA:2750
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Lymphedema, Retinal hamartom... ORPHA:538
Meckel Syndrome, Type 2
Omphalocele, Bile duct proliferation, Renal cyst OMIM:603194
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Depressed nasal bridge, Lattice retinal de... ORPHA:485
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Decreased liver function OMIM:600666
C Syndrome
Omphalocele, Hepatomegaly, Anteverted nares, Cryptorchidism, Wide nasal bridge, Renal cortical cy... OMIM:211750
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Oligozoospermia, Azoospermia, ... ORPHA:125
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Anteverted nares, Aggressive behavior, Gait ataxia, Absent scrotum, Retinal degeneration OMIM:618479
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Underdeveloped nasal alae, Prominent nose, Precocious puberty, Wide nasal bridge, Truncal obesity... ORPHA:2637
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Abdominal situs ambiguus, Chronic rhinitis OMIM:617092
Hyperekplexia 2
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614619
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy, Decreased response to growth hormone stimul... ORPHA:79323
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Septate vagina, Unilateral renal agenes... ORPHA:2237
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Multicystic kidney dysplasia, Hydroureter, Polyhydramnios, Hypoperistalsis, Cryptorc... ORPHA:2241
Ciliary Dyskinesia, Primary, 30
Nasal congestion, Absent outer dynein arms, Nasal polyposis OMIM:616037
3Q29 Microduplication Syndrome
Camptodactyly of toe, Wide nasal bridge, Obesity ORPHA:251038
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive ORPHA:2089
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico... ORPHA:107
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Hepatocellular necrosis, Hepatosplenome... OMIM:618278
Ciliary Dyskinesia, Primary, 42
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:618695
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Inguinal hernia, Optic atrophy, Obesity OMIM:614947
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Hiatus hern... ORPHA:2538
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dandy-Walker malformation, Colpocephaly, Lateral ventricle dilatation, Dilated third ventricle, V... ORPHA:397715
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Optic atrophy, Exaggerated startle response, Prominent nose OMIM:617281
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Diarrhea, Xerostomia, Hematochezia, Paresthesia, Vomiting OMIM:175500
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... ORPHA:2473
Williams Syndrome
Hypoplasia of penis, Tremor, Periorbital edema, Dysmetria, Abnormal tubulointerstitial morphology... ORPHA:904
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Depression, De... ORPHA:99832
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:615444
Branchiootorenal Syndrome 1
Renal malrotation, Facial palsy, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dy... OMIM:113650
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353281
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Wide nasal bridge, Atypical scarri... ORPHA:1297
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Renal insufficiency, Flexion contracture, Xerostomia, Oliguria, Gastroesophageal ref... ORPHA:220393
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behav... ORPHA:369950
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence, Bulbous nose, Gastroesophageal reflux, Constipation, Attention deficit hype... OMIM:619934
Pagod Syndrome
Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/apla... ORPHA:991
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Optic disc coloboma, Wide nasal bridge... OMIM:617157
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Female infertility, Asplenia, Nasal congestion, Chronic rhinit... ORPHA:244
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Obesity OMIM:105830
Histiocytoid Cardiomyopathy
Hepatomegaly, Optic atrophy, Renal cyst, Polycystic ovaries, Vomiting, Failure to thrive, Pulmona... ORPHA:137675
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hajdu-Cheney Syndrome
Wide nose, Inguinal hernia, Anteverted nares, Hypospadias, Cryptorchidism, Renal cyst, Polycystic... OMIM:102500
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Retinal... OMIM:616546
Digeorge Syndrome
Renal dysplasia, Hepatic steatosis, Renal insufficiency, Inguinal hernia, Femoral hernia, Choleli... OMIM:188400
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Edema, Cryptorchidism, Transverse vaginal septum, Hydrometroc... OMIM:236700
Schimke Immuno-Osseous Dysplasia
Depressed nasal bridge, Small for gestational age, Abnormality of thyroid physiology, Broad nasal... ORPHA:1830
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620113
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Nephronophthisis-Like Nephropathy 1
Kinetic tremor, Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts,... OMIM:613159
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Attention deficit h... OMIM:619426
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Inguinal hernia, Depressed nasa... OMIM:613610
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Hyperactivity, Recurrent urinary tract infections, Abnormal ... ORPHA:3310
Radio-Renal Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Renal agenesis, Renal hypo... ORPHA:3015
Penile Agenesis
Urethral atresia, male, Depressed nasal bridge, Hydroureter, Cryptorchidism, Fetal pyelectasis, B... ORPHA:49
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Polyhydramnios, Edema, Splenomegaly, Renal hypoplasia... OMIM:269860
Proteus Syndrome
Abnormality of retinal pigmentation, Anteverted nares, Depressed nasal bridge, Testicular neoplas... ORPHA:744
Meckel Syndrome 14
Anteverted nares, Increased nuchal translucency, Hepatic fibrosis, Aplasia of the uterus, Polycys... OMIM:619879
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Flexion contracture, Optic atrophy, Retinal dys... OMIM:253800
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... OMIM:617260
Cystic Fibrosis
Male infertility, Hepatomegaly, Nasal polyposis, Meconium ileus, Diarrhea, Ileus, Hypercalciuria,... OMIM:219700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Long nose, Pelvic kidney, Abnormal repetitive mannerism... OMIM:619522
Reynolds Syndrome
Hepatomegaly, Jaundice, Xerostomia, Gastroesophageal reflux, Cirrhosis, Dysphagia, Ascites ORPHA:779
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Prominent nasal bridge, Prominent nose, Precocious puberty, Truncal obesity, Type II diabetes mel... OMIM:210720
Immunodeficiency 13
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections OMIM:615518
Iatrogenic Botulism
Orthostatic hypotension, Xerostomia, Constipation, Urinary retention, Dysphagia ORPHA:254509
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven... ORPHA:1855
Agel Amyloidosis
Ataxia, Facial palsy, Edema, Proteinuria, Xerostomia, Stage 5 chronic kidney disease, Depression,... ORPHA:85448
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Yao Syndrome
Diarrhea, Xerostomia, Nephrolithiasis, Weight loss OMIM:617321
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Retinal hemorrhage, Angioid streaks of the fundus, Macular degenerat... OMIM:177850
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Prominent nose, Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia OMIM:616300
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Large for gestational age, Reti... ORPHA:500095
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Joubert Syndrome 5
Ataxia, Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease... OMIM:610188
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Pancreati... ORPHA:99889
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Prominent nose ORPHA:319675
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Large for gestationa... OMIM:616026
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Joint contracture, Inguinal hernia OMIM:614457
Meckel Syndrome, Type 1
Omphalocele, Hypoplasia of the bladder, Accessory spleen, Renal agenesis, External genital hypopl... OMIM:249000
Fanconi Anemia, Complementation Group A
Male infertility, Duplicated collecting system, Hypergonadotropic hypogonadism, Small for gestati... OMIM:227650
Robinow Syndrome
Multicystic kidney dysplasia, Small scrotum, Small for gestational age, External genital hypoplas... ORPHA:97360
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Corneal scarring, Chorioretinal coloboma OMIM:212550
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst OMIM:611134
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Short nasal bridge, Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, ... OMIM:253280
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 5
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:608647
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, P... OMIM:241080
Hellp Syndrome
Elevated hepatic transaminase, Pulmonary edema, Proteinuria, Increased body weight, Hemoglobinuri... ORPHA:244242
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation OMIM:619847
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Intraalv... OMIM:222700
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Prominent nose, Bulbous nose,... DECIPHER:81
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Inguinal hernia, Anteverted nares, Broad nasal tip, Renal cy... OMIM:272460
Bare Lymphocyte Syndrome, Type I
Nasal polyposis OMIM:604571
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Multicystic kidney dysplasia, Facial palsy, Polyhydramnios, Wide nasal bridge, Joint... OMIM:300373
Witteveen-Kolk Syndrome
Hyperactivity, Wide nose, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Aggre... OMIM:613406
C Syndrome
Omphalocele, Multicystic kidney dysplasia, Anteverted nares, Failure to thrive in infancy, Depres... ORPHA:1308
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Retinal dystrophy, Pancreatic fibrosis, Hydrops fetalis, Hepatic fibrosis, Polycystic kidney dysp... OMIM:263520
Monosomy 22Q13.3
Renal dysplasia, Hyperactivity, Palpebral edema, Impaired pain sensation, Lymphedema, Hair-pullin... ORPHA:48652
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Knobloch Syndrome
Retinal detachment, Depressed nasal bridge, Abnormal vitreous humor morphology, Macular degenerat... ORPHA:1571
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Renal insufficiency, Polyuria, Xerostomia, Nephrolithiasis, Hypo... OMIM:617671
Ulnar-Mammary Syndrome
Camptodactyly of finger, Cryptorchidism, Obesity, Delayed puberty, Hernia of the abdominal wall ORPHA:3138
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Increased connective tissue, Flexion contracture, Dysphagia, Gastroesophageal reflu... ORPHA:258
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Botulism
Diarrhea, Xerostomia, Constipation, Urinary retention, Dysphagia ORPHA:1267
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Anteverted nares, Shoulder flexion contracture, Prominent nose, Cryptorchidism, ... OMIM:210710
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... OMIM:301072
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Hyperlipidemia, Hyperuricemia ORPHA:35909
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Congenital diaphragmatic he... ORPHA:1596
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Hepatomegaly, Hyposp... OMIM:312870
Jacobsen Syndrome
Multicystic kidney dysplasia, Inguinal hernia, Anteverted nares, Cryptorchidism, Annular pancreas... ORPHA:2308
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cryptorchidism, Panc... OMIM:130650
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... OMIM:193300
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Prominent nose, Hyperlipidem... ORPHA:3464
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Foodborne Botulism
Diarrhea, Xerostomia, Constipation, Urinary retention, Dysphagia ORPHA:228371
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Anteverted nares, Hypercalcemia, Depressed nasal bridge, Broa... OMIM:194050
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Aicardi Syndrome
Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dilatation, Dilat... OMIM:304050
Kabuki Syndrome
Congenital diaphragmatic hernia, Precocious puberty, Cryptorchidism, Obesity, Short columella, Fa... ORPHA:2322
Desbuquois Dysplasia 2
Truncal obesity, Depressed nasal bridge OMIM:615777
Granulomatosis With Polyangiitis
Concave nasal ridge, Nasal mucosa vasculitis, Retinal hemorrhage, Weight loss OMIM:608710
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Choanal atresia, Anteverted nares... ORPHA:199
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Rubinstein-Taybi Syndrome 1
Premature thelarche, Prominent nose, Bilateral cryptorchidism, Flexion contracture, Hepatic heman... OMIM:180849
Benign Schwannoma
Nasal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwannoma, A... ORPHA:252164
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Hajdu-Cheney Syndrome
Hepatomegaly, Wide nose, Inguinal hernia, Anteverted nares, Hypospadias, Splenomegaly, Wide nasal... ORPHA:955
Glycogen Storage Disease Ic
Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respiratory tract infections,... OMIM:232240
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Ingu... ORPHA:1507
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Small for gestat... OMIM:107480
Primrose Syndrome
Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Tics, Hypothyroidism, Ab... OMIM:259050
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Multicystic kidney dysplasia, Displacement of the urethral meatus, Ascites, H... ORPHA:1556
Mosaic Variegated Aneuploidy Syndrome
Wide nose, Multicystic kidney dysplasia, Vaginal neoplasm, Polyhydramnios, Increased nuchal trans... ORPHA:1052
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Hypercalciuria ORPHA:2239
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Decreased testicular size, Hyperactivity, Anteverted nares, Depressed nasal bridge, Triangular na... OMIM:309580
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Wide nasal bridge, Renal cyst OMIM:615560
Pmm2-Cdg
Multiple joint contractures, Prominent nose, Lymphedema, Hyperplastic labia majora, Vomiting, Hep... ORPHA:79318
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Bowel ... ORPHA:857
Mowat-Wilson Syndrome
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vomiting, Vesicoureteral refl... ORPHA:2152
Acrorenal-Mandibular Syndrome
Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Uterus didelphys, Elb... OMIM:200980
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Hypoplasia of penis, Wide nose, Depressed nasal bridge, Urethrovaginal fistula, Cryp... ORPHA:93271
Coccidioidomycosis
Abnormal sperm morphology, Renal insufficiency, Abnormal retinal morphology, Abnormality of the k... ORPHA:228123
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Anteverted nare... ORPHA:709
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia, Precocious puberty, Cryptorchidism, Ve... ORPHA:438213
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... ORPHA:529962
Genitopatellar Syndrome
Hip contracture, Wide nose, Small scrotum, Multicystic kidney dysplasia, Enlarged labia minora, P... OMIM:606170
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Optic nerve dysplasia, Hydronephrosis, Hydromyelia, Retinal dysplas... OMIM:615287
Orofaciodigital Syndrome I
Proteinuria, Underdeveloped nasal alae, Pancreatic cysts, Wide nasal bridge, Ovarian cyst, Hepati... OMIM:311200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353277
Fraser Syndrome
Omphalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Cleft ala nasi, Depressed nasal bri... ORPHA:2052
Hutchinson-Gilford Progeria Syndrome
Narrow nasal tip, Female hypogonadism, Narrow nasal ridge, Decreased serum leptin, Absence of sub... ORPHA:740
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... ORPHA:261537
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Roberts Syndrome
Progressive flexion contractures, Polyhydramnios, Underdeveloped nasal alae, Cryptorchidism, Long... ORPHA:3103
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Abnormal nasopharynx morphology, Hydroureter, Hypo... OMIM:129900
Primary Sjögren Syndrome
Somatic sensory dysfunction, Renal insufficiency, Chronic active hepatitis, Abnormality of the ki... ORPHA:289390
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Abnormal nasopharynx morphology, Hydroureter, Hypo... OMIM:604292
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst ORPHA:480536
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Nasal polyposis, Dysphagia ORPHA:183
Epidermal Nevus Syndrome
Lipoma, Polycystic kidney dysplasia ORPHA:35125
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... ORPHA:261552
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly OMIM:619479
Myhre Syndrome
Small for gestational age, Prominent nasal bridge, Cryptorchidism, Obesity, Camptodactyly OMIM:139210
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst, Generalized edema OMIM:617478
Attenuated Familial Adenomatous Polyposis
Uterine leiomyoma, Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium ORPHA:220460
Carpenter Syndrome 2
Depressed nasal bridge, Anteverted nares, Bilateral cryptorchidism, Cryptorchidism, Wide nasal br... OMIM:614976
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly OMIM:309801
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Blau Syndrome
Clear cell renal cell carcinoma, Facial palsy, Camptodactyly of finger, Abnormal retinal vascular... ORPHA:90340
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Prominent nose, Bulbous nose, S... OMIM:612474
Femoral-Facial Syndrome
Inguinal hernia, Renal agenesis, Abnormal renal collecting system morphology, Underdeveloped nasa... OMIM:134780
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Anteverted nares, Decreased response to growth hormone stimulation test, Obesity, Short nose, Hyp... ORPHA:444077
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Fabry Disease
Anorexia, Hyperlipidemia, Optic atrophy, Delayed puberty, Left ventricular hypertrophy, Abnormal ... ORPHA:324
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Aganglionic megacolon, Hypospadias, U... OMIM:308205
Branchiooculofacial Syndrome
Depressed nasal bridge, Hypospadias, Facial palsy, Broad nasal tip, Renal agenesis, Cryptorchidis... OMIM:113620
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Pr... ORPHA:227982
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Cerebrocostomandibular Syndrome
Polyhydramnios, Ectopic kidney, Elbow flexion contracture, Renal cyst, Horseshoe kidney, Gastroes... OMIM:117650
Cystic Fibrosis
Elevated hepatic transaminase, Nasal polyposis, Abnormality of the liver, Cirrhosis, Steatorrhea,... ORPHA:586
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Inguinal hernia, Anteverted nares, Polyhydramnios, Broad nasal tip, Renal cortical cysts, Vesicou... OMIM:618548
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Bi... ORPHA:227990
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Tremor, Splenomegaly, Chronic rhinitis, Abnormality of visual evoked potentials, Op... ORPHA:667
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Biliary tract abnormality, Precocious... OMIM:175200
Sarcoidosis
Hepatomegaly, Abnormal nasal mucosa morphology, Hyperthyroidism, Diabetes insipidus, Hypercalcemi... ORPHA:797
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle ORPHA:314404
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Anorexia, Phimosis, Urinary bladder inflammation, Diarr... ORPHA:99921
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dilated third ventricle, Dandy... ORPHA:434179
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Ascites, Hypoalbuminemia ORPHA:567546
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly OMIM:620083
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Anorexia, Oral-pharyngeal dysp... ORPHA:95455
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus OMIM:619607
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Holoprosencephaly 13, X-Linked
Colpocephaly, Agenesis of corpus callosum OMIM:301043
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Cholangitis, Facial edema, Periorbital edema, Ret... ORPHA:449432
Tako-Tsubo Cardiomyopathy
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration ORPHA:66529
Pallister-Killian Syndrome
Small scrotum, Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Flex... OMIM:601803
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Facial edema, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Weight loss, Tu... ORPHA:79078
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:618820
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent... ORPHA:70591
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Polyhydramnios, Underdeveloped nasal alae, ... OMIM:268300
Lambert-Eaton Myasthenic Syndrome
Xerostomia, Hypohidrosis, Impotence, Constipation, Abnormal autonomic nervous system physiology, ... ORPHA:43393
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Depressed nasal br... ORPHA:3404
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Renal steatosis, Renal artery stenosis, Optic neuropathy ORPHA:391665
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Lymphedema, Cryptorchidism, Hypogona... OMIM:163950
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... OMIM:164210

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 Bbs2

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 Bbs2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Bbs2em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Bbs2em1(IMPC)Wtsi Bbs2em1(IMPC)Wtsi PMC6671969

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
Bbs2em2(IMPC)Wtsi Point Mutation Mice
Bbs2em1(IMPC)Wtsi Point Mutation Mice
Bbs2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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