Gene Summary

Name:
spectrin beta, non-erythrocytic 1
Synonyms:
9930031C03Rik,  spectrin G,  non-erythrocytic,  Spnb2,  Spnb-2,  brain spectrin,  elf1,  beta fodrin,  elf3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Sptbn1tm1a(EUCOMM)Wtsi HET Early adult 1.95×10-05
decreased body weight Sptbn1tm1a(EUCOMM)Wtsi HET Early adult 7.88×10-06
decreased circulating serum albumin level Sptbn1tm1a(EUCOMM)Wtsi HET Early adult 1.03×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote Ambiguous
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 100% (2 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 120 images

Human diseases caused by Sptbn1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Sptbn1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... OMIM:619475

The table below shows human diseases predicted to be associated to Sptbn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Schöpf-Schulz-Passarge Syndrome
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Squamous cell carcinoma, Basal cell ... ORPHA:50944
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Macroglossia,... ORPHA:2221
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Ileu... ORPHA:83469
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
Congenital Macroglossia
Macroglossia, Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair,... ORPHA:902
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma ORPHA:2023
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Cowden Syndrome 1
Hamartomatous polyposis, High palate, Hypothyroidism, Transitional cell carcinoma of the bladder,... OMIM:158350
Zimmermann-Laband Syndrome
Large fleshy ears, High palate, Absent fingernail, Bifid uvula, Hepatomegaly, Abnormal external g... ORPHA:3473
Fanconi Anemia, Complementation Group S
Macrodontia, Low anterior hairline, Dental malocclusion, Breast carcinoma, Ovarian neoplasm, Narr... OMIM:617883
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Hypoplasia of the ear cartilage, Sarcoma ORPHA:66661
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo... ORPHA:314478
Familial Colorectal Cancer Type X
Flexion contracture, Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarc... ORPHA:440437
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Acquired Ichthyosis
Renal insufficiency, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma ORPHA:454
Bazex Syndrome
Yellow nails, Lip hyperpigmentation, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Brain neoplasm, Metrorrhagia, Pelvic mass, Precocious pube... ORPHA:370348
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Emphy... OMIM:618913
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Diastasis recti, Cardi... OMIM:130650
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Abnormal circulating gonadotropin concentration, ... ORPHA:180229
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... OMIM:614350
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... ORPHA:65285
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... ORPHA:137608
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-ob... ORPHA:1333
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... ORPHA:314473
46,Xy Sex Reversal 6
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... OMIM:613762
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... ORPHA:296
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... OMIM:136680
Coffin-Siris Syndrome 2
Low anterior hairline, High palate, Short philtrum, Cryptorchidism, Absent fifth toenail, Thick v... OMIM:614607
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Asbestos Intoxication
Atelectasis, Pleural thickening, Cor pulmonale, Myocardial fibrosis, Abnormal pulmonary interstit... ORPHA:2302
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemi... OMIM:246700
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Abnormal fingernail morphology, Yellow nails, B... ORPHA:662
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Lynch Syndrome 4
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm OMIM:614337
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Down Syndrome
Anal atresia, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Narrow mout... ORPHA:870
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pulmonary cyst, Large for gestational age, Overgrowth, Nephroblastoma, Enlarged kidney OMIM:618272
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, L... ORPHA:116
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Hypoplastic toenails, Spars... ORPHA:2722
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Macrotia, Cardiomegaly OMIM:300886
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Costello Syndrome
Low-set, posteriorly rotated ears, Deep-set nails, Ventricular septal defect, Abnormal fingernail... ORPHA:3071
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Thick lower lip vermilion, Obesity, Bilateral sensorineural hearing impairment, Macroorchidism, M... OMIM:300238
Atkin-Flaitz Syndrome
Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilion border, Macro... ORPHA:1193
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Legius Syndrome
Acute monocytic leukemia, Hearing impairment, Non-small cell lung carcinoma, Neurofibroma, Nephro... ORPHA:137605
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the central nervous system, Hematuria, Neoplasm of the liver, Sarcoma ORPHA:69077
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Paraneoplastic Pemphigus
B-cell lymphoma, Oral mucosal blisters, Oral ulcer, Thymoma, Sarcoma ORPHA:63455
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Lujan-Fryns Syndrome
Atrial septal defect, Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Pro... ORPHA:776
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Adrenocortical adenoma, ... ORPHA:231632
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphom... ORPHA:100025
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, True hermaphroditism, Nephrobla... OMIM:194080
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... ORPHA:254864
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon... OMIM:275400
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries... ORPHA:284180
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Alopecia, Abnormal fingernail morphology, Malabsorption, Hypo... ORPHA:2930
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Tricuspid stenosis, Primary hyperc... ORPHA:100079
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Malabsorpt... ORPHA:85445
Sialuria
Smooth philtrum, Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Synophrys, Low posterior h... OMIM:269921
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma ORPHA:626
Liposarcoma
Abnormality of the kidney, Sarcoma ORPHA:69078
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:613496
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Eruption failure, Multiple lipomas, Pap... OMIM:175100
Alpha-Mannosidosis
Hepatomegaly, Recurrent respiratory infections, Open bite, Splenomegaly, Dental malocclusion, Gin... ORPHA:61
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Hearing impairment, Splenomegaly, Senso... OMIM:616354
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male... ORPHA:90790
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ... ORPHA:562
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased m... OMIM:500009
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Mus... OMIM:613156
Zimmermann-Laband Syndrome 2
Thick eyebrow, Sensorineural hearing impairment, Synophrys, Widow's peak, Deep philtrum, Gingival... OMIM:616455
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Thick lower... OMIM:300354
Intellectual Developmental Disorder, X-Linked 21
Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Synophrys, Macroorchidism, Open mouth OMIM:300143
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios OMIM:615731
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... OMIM:300602
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Premature loss of permanent teeth, Laryngeal carcinoma, Hypospadias, External genital hypoplasia,... OMIM:610644
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Abnormal hair morphology, Protruding ear, Neoplasm of the skin, Abno... ORPHA:317
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Flexion contracture, Orofacial cleft, High palate, ... ORPHA:261290
Triploidy
Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal mal... ORPHA:3376
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Trisomy 20P
Low anterior hairline, Protruding ear, Downturned corners of mouth, Coarse hair, Short philtrum, ... ORPHA:261318
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Central Precocious Puberty In Male
Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Pituitary microadenoma, Overgrowt... ORPHA:649929
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Carious teeth, Breast... OMIM:614564
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Overfolded helix, Mi... ORPHA:324410
Megalencephaly
Macroorchidism, Atrial septal defect, Long penis, Truncal obesity ORPHA:2477
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Coffin-Siris Syndrome 3
Sparse scalp hair, Thick eyebrow, Hearing impairment, Central diaphragmatic hernia, Cleft palate,... OMIM:614608
Meckel Syndrome, Type 8
Cleft upper lip, Pericardial effusion, Cleft palate, Low-set ears, Polycystic kidney dysplasia, A... OMIM:613885
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Limb joint contracture, Abnormal pinna morphology, Ankle flexion contracture, Synophrys, Elbow fl... ORPHA:280384
Autosomal Spastic Paraplegia Type 18
Hip contracture, Abnormal pinna morphology, Ankle flexion contracture, Neck joint contracture, Sy... ORPHA:209951
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... ORPHA:79474
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Cryptorchidism, Low anterior hairline, Abnormal heart morphology, Down... ORPHA:369891
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
17Q11.2 Microduplication Syndrome
Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Macro... ORPHA:139474
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Monosomy 22
Low-set, posteriorly rotated ears, Aplasia of the thymus, Open mouth, Schwannoma, Synophrys, Hepa... ORPHA:96123
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Squamous cell carcinoma, Basal cell carcinoma, Onych... OMIM:224750
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cr... ORPHA:3363
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Posteriorly rotated ears, Deep philtrum, Recurrent pneumonia, Hepatosplenomegaly, High palate, Lo... OMIM:619750
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, High palate OMIM:300428
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Abnormal liver lobulation,... OMIM:608022
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Natal tooth, Recurrent respiratory infections, Hypospadias, Abnorma... OMIM:610253
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Low anterior hairline, Elbow flexion ... OMIM:618440
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Coarse hair, Macrovesicular hepatic steato... OMIM:617303
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, ... ORPHA:2584
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo... ORPHA:1008
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... ORPHA:158057
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Macrotia, Everted lower lip vermilion, Obesity ORPHA:85286
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Cardiomegaly, Hypoplastic toenails, Increased muscle lipid content, Knee fl... OMIM:608836
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, ... ORPHA:373
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Dilated cardiomyopathy, Macroglossia, Calf muscle hypertrophy, Muscular ... OMIM:616827
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Fragile X Syndrome
Macroorchidism, postpubertal, Macrotia, Congenital macroorchidism, Mitral valve prolapse OMIM:300624
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Rabson-Mendenhall Syndrome
Dental crowding, Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying o... ORPHA:769
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great... OMIM:616789
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... OMIM:235200
Kleefstra Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Synophrys, Renal cyst, Do... ORPHA:261494
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... OMIM:615415
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Crandall Syndrome
Alopecia, Hypoplasia of penis, Brittle hair, Sensorineural hearing impairment, Fine hair, Hypogon... ORPHA:202
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Macrogloss... ORPHA:79320
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... ORPHA:659
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Cleft upper lip, Medulloblastom... OMIM:109400
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,... ORPHA:77301
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Hypothyroidism ORPHA:2349
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Sparse eyelashes, Hypospadias, Sparse eyebrow, Mitral valve prolapse, B... OMIM:618874
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Highly arched eyebrow, Protruding tongue, Cryptorchidis... ORPHA:96147
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Palmoplantar Carcinoma, Multiple Self-Healing
Long philtrum, Carcinoma, Nail dystrophy, Squamous cell carcinoma OMIM:615225
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Congenital Disorder Of Deglycosylation 2
Hamartoma of tongue, Highly arched eyebrow, Macroglossia, Microtia, High palate, Hypothalamic ham... OMIM:619775
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Flexion contracture, Obesity, High palate, Macroorchidism, Male hypogonadism, M... OMIM:300055
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Basal cell carcinoma, Abnormality ... ORPHA:79405
Desmoid Tumor
Intestinal polyposis, Intestinal obstruction, Abnormality of the upper urinary tract, Malabsorpti... ORPHA:873
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Open ... OMIM:309520
Apert Syndrome
Delayed eruption of teeth, Esophageal atresia, Sensorineural hearing impairment, Abnormal semicir... ORPHA:87
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
H Syndrome
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Abnormality of the kidney, Cleft upper ... ORPHA:168569
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... OMIM:616050
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia, Premature loss of teeth OMIM:114580
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Neoplasm of th... ORPHA:744
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Brain neoplasm, Tented upper lip vermilion, Decreased response to growth... ORPHA:273
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Crouzon Syndrome
Dental crowding, High palate, Atresia of the external auditory canal, Conductive hearing impairme... OMIM:123500
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Accessory oral frenulum, Flexion contracture, Hypoplasia of teeth, Inclusion body fibro... ORPHA:88630
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Peroxisome Biogenesis Disorder 1A (Zellweger)
Adrenal hypoplasia, High, narrow palate, Aminoaciduria, High palate, Intrahepatic biliary dysgene... OMIM:214100
Tuberous Sclerosis 2
Astrocytoma, Angiofibromas, Subependymal giant-cell astrocytoma, Renal cyst, Subependymal nodules... OMIM:613254
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, C... OMIM:267000
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Terminal Osseous Dysplasia
Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Cleft palate, Thic... OMIM:300244
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... ORPHA:860
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Alopecia, Recurrent urinary tract infections, Lymphoproliferative disorder, Elevate... OMIM:615559
Tuberous Sclerosis 1
Chordoma, Dental enamel pits, Astrocytoma, Precocious puberty, Ependymoma, Gingival fibromatosis,... OMIM:191100
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Premature loss of teeth, ... OMIM:618373
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Schinzel-Giedion Syndrome
Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, High palate, Hepa... ORPHA:798
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Atrial septal defect, Small scrotum, Hypospadias, Hyperconvex nail, Uret... OMIM:269150
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Sézary Syndrome
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Cutaneous T-cell lymphoma, Abnormal pleura morph... ORPHA:3162
Dermatomyositis
Abnormal hair quantity, Recurrent respiratory infections, Pericarditis, Gastrointestinal stroma t... ORPHA:221
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Multiple lipomas, Microtia, Overgrowth, Nephroblastoma, Ovarian serous cystaden... ORPHA:276280
Fragile X Syndrome
Macroorchidism, Protruding ear, Mitral valve prolapse ORPHA:908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... OMIM:618729
Alg9-Cdg
Villous atrophy, Abnormal lung lobation, Right ventricular dilatation, Large fleshy ears, Abnorma... ORPHA:79328
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Se... ORPHA:95716
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Abnormal pinna morphology, Pancreatic fibrosis, Hypoplasia of th... OMIM:200995
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Alg3-Cdg
Abnormal pinna morphology, Abnormality of the endocrine system, Cardiomyopathy, Macroglossia, Hig... ORPHA:79321
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Melanoma, Neoplasm o... ORPHA:618
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Basal cell carcinoma, Abnormality ... ORPHA:79406
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia OMIM:256300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... OMIM:608840
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy... ORPHA:85443
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypospadias, Macrodontia, Diabe... ORPHA:3242
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepato... OMIM:312870
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Squamous cell carcinom... ORPHA:79411
Dyskeratosis Congenita, X-Linked
Ridged nail, Oropharyngeal squamous cell carcinoma, Pterygium of nails, Squamous cell carcinoma, ... OMIM:305000
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Ventricular septal defect, Large for gestational age, Sensorineural hearing im... OMIM:617107
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dys... OMIM:613091
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Dyskeratosis Congenita
White hair, Premature graying of hair, Neoplasm, Periodontitis, Sparse hair, Hepatomegaly, Alopec... ORPHA:1775
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Ethanolaminosis
Cardiomegaly OMIM:227150
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Posteriorly rotated ears, Wide mouth, Macroglossia, Disproportionate t... OMIM:615668
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Mulibrey Nanism
Hepatomegaly, Dental crowding, Cardiomegaly, Microglossia, Myocardial fibrosis, Dental malocclusi... OMIM:253250
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Rothmund-Thomson Syndrome, Type 2
Squamous cell carcinoma, Premature graying of hair, Anteriorly placed anus, High palate, Sparse h... OMIM:268400
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Widely spaced ... OMIM:618268
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Selective tooth agenesis, Neoplasm, Decreased serum estradiol, Micro... ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Sparse eyelashes, Sparse eyebrow, Pulmonary fibr... OMIM:615704
Thyroid Hemiagenesis
Thyroid agenesis, Macroglossia, Jaundice ORPHA:95719
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Deep philtrum, Knee flexion contracture, Capillary hemangioma, Microdontia, Pro... OMIM:619194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Macroglossia, Cardiomyopathy, Calf muscle hypertrophy, Muscula... OMIM:613155
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Splenomegal... ORPHA:354
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Posteriorly rotated ears, Highly arched eyebrow, Cardi... OMIM:618143
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mass, Genital neop... ORPHA:2126
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Abnormal pinna morphology, Pulmonary artery st... ORPHA:75389
Anauxetic Dysplasia 2
Flexion contracture, Macroglossia, Hypodontia, Nail dysplasia, Small nail, Sparse hair OMIM:617396
Partington Syndrome
Macroorchidism ORPHA:94083
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Large for gestational... ORPHA:500095
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Hepatic steatosis, Alopecia, Increased circulating cortisol level, Hyperal... ORPHA:189427
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Porphyria Cutanea Tarda
Alopecia, Porphyrinuria, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis OMIM:176100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstr... OMIM:309900
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Oncogenic Osteomalacia
Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc... ORPHA:352540
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sensorineural ... OMIM:602540
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... ORPHA:276152
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Alopecia, Aganglionic megacolon, Cryptorchidism, Rena... ORPHA:85284
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Abnormal dental morphology, Camptodactyly of finger, Protruding ear, Everted lower lip ... ORPHA:2251
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormal lung morphology, Hep... ORPHA:464329
Nicolaides-Baraitser Syndrome
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, High, na... ORPHA:3051
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Abnormality of the dentition, Melanoma, Basal cell carcinoma, Squamou... OMIM:620040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi... OMIM:619950
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... OMIM:617022
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Facial hypertrichosis, Dental crowding, Sensorineural hearing impairment, Deep philtrum, Hepatosp... ORPHA:397709
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Thick eyebrow, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Thick l... OMIM:252940
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplas... ORPHA:3055
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Papillon-Lefèvre Syndrome
Recurrent respiratory infections, Liver abscess, Abnormal fingernail morphology, Severe periodont... ORPHA:678
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Esophageal stricture, Flexio... OMIM:226600
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia OMIM:188150
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Gastrointestinal Stromal Tumor
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... ORPHA:44890
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Peutz-Jeghers Syndrome
Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Intestinal obstruction, Stomach ca... ORPHA:2869
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal ... ORPHA:2325
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Renal cyst, Widely spaced teeth, High palate, Nephronophthisis... OMIM:266920
Neurofibromatosis Type 1
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Spinal neurofibroma, Sarcoma, Abnormal... ORPHA:636
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... OMIM:252011
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Costello Syndrome
High palate, Sparse hair, Atrial septal defect, Deep-set nails, Thin nail, Concave nail, Vestibul... OMIM:218040
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Hypospadias, Ventricular septal defect, Posteriorly rotated ears, P... OMIM:301040
Milroy Disease
Hydrocele testis, Neoplasm of the skin, Toenail dysplasia, Angiosarcoma ORPHA:79452
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... OMIM:190685
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, High palate, Hepatic fibrosis, Sparse hair, Alopecia, Hamartoma of to... OMIM:311200
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilater... ORPHA:2874
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Vesicoureteral refl... ORPHA:453499
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Thick eyebrow, Abnormal heart valve morphology, Diastasis recti, Heparan sulfate ex... OMIM:253220
Pontocerebellar Hypoplasia, Type 9
Short upper lip, Macroglossia, Facial hypotonia, Abnormal pinna morphology OMIM:615809
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce... ORPHA:99880
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Myelodysplasia, Carious teeth, Nail pits, Hepatic necrosis, Premature gray... OMIM:127550
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Sensorineural he... OMIM:193300
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog... ORPHA:1332
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Hypoplastic toenails, Asplenia, Biliary atresia, Dextrotransposition of the great a... OMIM:306955
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Macrotia, Spars... ORPHA:2850
Leprechaunism
Skeletal muscle atrophy, Rectal prolapse, Protruding ear, Nephrocalcinosis, Increased circulating... ORPHA:508
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Prematu... OMIM:112250
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter OMIM:274400
Intellectual Developmental Disorder, Autosomal Recessive 30
Macroglossia OMIM:614342
Mucolipidosis Ii Alpha/Beta