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Gene: Pepd MGI:97542

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Gene Summary

Name:
peptidase D
Synonyms:
dal,  Pep4,  Pep-4,  peptidase D

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 circulating aspartate transaminase level Pepdtm1b(KOMP)Wtsi HOM Early adult 1.35×10-05
decreased bone mineral density Pepdtm1a(KOMP)Wtsi HOM Early adult 8.13×10-06
abnormal bone structure Pepdtm1a(KOMP)Wtsi HOM Early adult 1.37×10-08
increased memory-marker CD4-negative NK T cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating unsaturated transferrin level Pepdtm1b(KOMP)Wtsi HOM   Early adult 1.25×10-06
decreased vertical activity Pepdtm1b(KOMP)Wtsi HOM Early adult 2.05×10-06
decreased bone mineral content Pepdtm1b(KOMP)Wtsi HOM Early adult 1.73×10-06
prolonged RR interval Pepdtm1b(KOMP)Wtsi HOM Late adult 6.50×10-16
hyperactivity Pepdtm1b(KOMP)Wtsi HOM Early adult 2.01×10-06
decreased Ly6C-positive NK T cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased heart rate Pepdtm1b(KOMP)Wtsi HOM Late adult 4.49×10-14
abnormal cornea morphology Pepdtm1a(KOMP)Wtsi HOM   Early adult 9.11×10-05
decreased follicular B cell number Pepdtm1b(KOMP)Wtsi HOM Late adult 2.01×10-05
abnormal retina morphology Pepdtm1a(KOMP)Wtsi HOM Early adult 4.58×10-05
increased effector memory CD8-positive, alpha-beta T cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased mean corpuscular volume Pepdtm1b(KOMP)Wtsi HOM Early adult 4.53×10-09
decreased bone mineral content Pepdtm1a(KOMP)Wtsi HOM Early adult 4.91×10-08
decreased transitional stage T1 B cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased B cell number Pepdtm1b(KOMP)Wtsi HOM Late adult 4.22×10-05
decreased heart rate Pepdtm1b(KOMP)Wtsi HOM Early adult 2.91×10-06
increased memory-marker NK cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating iron level Pepdtm1b(KOMP)Wtsi HOM Early adult 2.97×10-06
increased thigmotaxis Pepdtm1b(KOMP)Wtsi HOM Early adult 7.93×10-06
abnormal optic disk morphology Pepdtm1b(KOMP)Wtsi HOM Early adult 3.00×10-16
decreased immature B cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
enlarged lymph nodes Pepdtm1b(KOMP)Wtsi HOM Late adult 0.00
prolonged RR interval Pepdtm1b(KOMP)Wtsi HOM Early adult 7.45×10-07
abnormal behavior Pepdtm1b(KOMP)Wtsi HOM Early adult 3.82×10-06
decreased CD5-positive Ly6C-positive T cell number Pepdtm1b(KOMP)Wtsi HOM Late adult 7.78×10-05
small stomach Pepdtm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal retina morphology Pepdtm1b(KOMP)Wtsi HOM   Early adult 2.76×10-05
increased CD4-positive, alpha-beta T cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal joint morphology Pepdtm1a(KOMP)Wtsi HOM Early adult 1.60×10-10
decreased B-2 B cell number Pepdtm1b(KOMP)Wtsi HOM Late adult 4.67×10-05
decreased circulating HDL cholesterol level Pepdtm1b(KOMP)Wtsi HOM Early adult 9.75×10-05
increased circulating insulin level Pepdtm1a(KOMP)Wtsi HOM Early adult 8.80×10-08
short tibia Pepdtm1b(KOMP)Wtsi HOM Early adult 1.09×10-07
decreased locomotor activity Pepdtm1b(KOMP)Wtsi HOM Early adult 1.27×10-07
decreased mean corpuscular hemoglobin Pepdtm1a(KOMP)Wtsi HOM Early adult 8.58×10-05
increased effector memory T-helper cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Pepdtm1a(KOMP)Wtsi HOM Early adult 7.90×10-06
increased anxiety-related response Pepdtm1b(KOMP)Wtsi HOM Early adult 6.75×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

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Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

42 Images

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Anti-nuclear antibody assay

Images

14 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

20 Images

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Bone marrow immunophenotyping

Images associated with FACS analysis

10 Images

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Eye Morphology

Images Slit Lamp

4 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

22 Images

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DSS Histology

Images

4 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Ophthalmoscopy

7 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Pepdtm1a(KOMP)Wtsi
HOM, Male, WTSI
Pepdtm1a(KOMP)Wtsi
HOM, Female, WTSI
Pepdtm1a(KOMP)Wtsi
HOM, Female, WTSI
Pepdtm1a(KOMP)Wtsi
HOM, Male, WTSI
Pepdtm1a(KOMP)Wtsi
HOM, Male, WTSI

View all 68 images

Pepdtm1a(KOMP)Wtsi
abnormal placement of pupils, HOM, Female, WTSI
Pepdtm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Pepdtm1a(KOMP)Wtsi
abnormal pupil morphology, abnormal placement of pupils, HOM, Male, WTSI
Pepdtm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Pepdtm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI

View all 11 images

Human diseases caused by Pepd 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 Pepd by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Prolidase Deficiency
Abnormal fingernail morphology, White forelock, Recurrent cystitis, Abnormality of retinal pigmen... ORPHA:742
Prolidase Deficiency
Low posterior hairline, Facial hirsutism, Hyperimidodipeptiduria OMIM:170100

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Dysplasia Of Head Of Femur, Meyer Type
Congenital hip dislocation, Limited hip movement, Leukocytosis, Multicentric femoral head ossific... ORPHA:168621
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Primary amenorrhea, Decreased se... ORPHA:52901
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Intrauter... ORPHA:163976
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased testicular size, Intrauterine growth retardation, Decre... OMIM:300869
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Sparse pubic hair, Abnormality of the Leydig cells, Decreased circulating dihy... OMIM:228300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Fetal Minoxidil Syndrome
Generalized hirsutism, Umbilical hernia, Cryptorchidism, Ventricular septal defect ORPHA:1918
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Si... OMIM:617182
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Retinal degeneration OMIM:617173
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Abnormal vagina morphology... ORPHA:168563
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Small nail, Absence of secondary sex characteristics, Decreased testicular siz... ORPHA:163971
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Dysphagia, Mildly elevated creatine kinase, Bradycardia OMIM:620265
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Increased circulating ferritin concentration, Decreased se... ORPHA:465508
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Loss of ambulation, Rod-cone dystrophy, Ataxia, Vacuolated lymphocytes OMIM:609055
Optic Atrophy 2
Optic atrophy, Absent Achilles reflex, Dysdiadochokinesis OMIM:311050
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy, Ankle flexion contracture, Pes cavus, Knee flexion contracture, Loss of ambulation... OMIM:615043
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Alopecia, Central hypothyroidism, Decreased serum testos... ORPHA:453533
Fibular Hemimelia
Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Difficulty walkin... ORPHA:93323
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Abnormal car... ORPHA:1937
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Mesoaxial Hexadactyly And Cardiac Malformation
External genital hypoplasia, Ventricular septal defect, Atrial septal defect, Torticollis, Short ... OMIM:249670
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Lethargy, Delayed proximal femoral ep... ORPHA:95717
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Li-Campeau Syndrome
Hypertrichosis, Thick eyebrow, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, H... OMIM:619189
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Increased level of D-threitol in plasma, Elevated circulating ribitol concentratio... OMIM:608611
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Irritability, Elevated circu... OMIM:212138
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Spastic ataxia, Dysdiadochokinesis OMIM:108650
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Bicuspid aorti... ORPHA:1772
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, Pulmonary ... ORPHA:277
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Irritability, Bradyca... OMIM:618235
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy, Overlapping toe OMIM:618572
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Camptodactyly of finger, Inappropriate laughter, Gait ataxia, Flexion contracture ... OMIM:619323
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defe... OMIM:615524
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Sonoda Syndrome
Short stature, Ventricular septal defect OMIM:270460
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Cryptorchidism, Myopathy, Ventricular septal defect OMIM:616816
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Glycine Encephalopathy 1
Hyperglycinemia, Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impuls... OMIM:605899
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Tongue atrophy, Depression, Violent behavior, Retinopathy, Emotional lability, Irr... ORPHA:216873
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Mmep Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:3434
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Spastic ataxia, Gait disturbance, Hyperglycinemia OMIM:616859
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Immunodeficiency 68
Abscess, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Osteoporosis, Osteolysis ORPHA:100024
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased RBC distribution width, Increased mean corpuscular... OMIM:261000
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh... ORPHA:1354
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Ambiguous genit... OMIM:618901
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microglossia, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial c... ORPHA:1972
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Dysphagia, Bradycardia OMIM:616276
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, ... ORPHA:1166
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndrome, Absent circ... OMIM:619705
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope... ORPHA:444463
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Abnormal circulating thyroglobulin co... ORPHA:95716
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Depression, Sensory axonal neuropathy, Cardiomyopathy, Elevated ci... ORPHA:254886
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Paroxysmal atrial tachycardia, Lethargy, Megaloblastic a... ORPHA:49827
Adams-Oliver Syndrome 4
Toenail dysplasia, Umbilical hernia, Hypoplastic toenails, Ventricular septal defect, Atrial sept... OMIM:615297
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Depression, Hyporeflexia of lower limbs, Hypocholesterolem... ORPHA:96180
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Arrhythmia, Ataxia, Ventricular preexcitation, Retina... ORPHA:104
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n... OMIM:607676
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Motor stereotypy OMIM:617830
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Sensory axonal neuropathy, Cardiomyopathy, Arrhythmia, Gait disturbance, Bradycardia,... OMIM:609286
Sarcosinemia
Optic atrophy, Hypertrophic cardiomyopathy, Emotional lability, Peroneal muscle weakness, Ataxia,... ORPHA:3129
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Robinow Syndrome
Webbed penis, Small scrotum, High anterior hairline, Small nail, Umbilical hernia, Abnormal heart... ORPHA:97360
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, T lymphocytopenia, Arthritis, B lymphocytopenia OMIM:601457
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... OMIM:610539
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Gastroesophageal reflux, Short... ORPHA:356961
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Intrauterine growth retardation, Abnormality of retinal pigmentation, Ven... ORPHA:2515
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Testicular atrophy, Bilateral cryptorchidism, Dec... OMIM:305400
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Hypertrophic cardiomyopathy, Aggressive behavior, Hyperactivity, Bilateral coxa valga OMIM:620270
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Hsd10 Mitochondrial Disease
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Aggressive behavior, Elevated c... OMIM:300438
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Disproportionate short-limb short stature, Intrauterine growth retardatio... ORPHA:2772
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Abnormal B cell count,... OMIM:620430
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Abnormality of the calcaneus, Micrognathia, Median cleft pal... ORPHA:40366
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, Bradycardia OMIM:614702
Nemaline Myopathy 9
Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno... ORPHA:895
Filippi Syndrome
Hypertrichosis, Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidism, Ve... OMIM:272440
Tetanus
Autonomic bladder dysfunction, Elevated circulating creatine kinase concentration, Hypertension, ... ORPHA:3299
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap... OMIM:618889
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cryptorchidism, Cardiomegaly, Perim... OMIM:620135
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Decreased plasma free carnitine, Hyperalaninemia, Bradycardia OMIM:619048
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Joint hypermobility, Delayed puberty, Hyperinsulinemic hypoglycemia, Osteoporo... OMIM:616033
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... OMIM:616299
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Transposition of the great arteries, Gonadal dysgen... OMIM:231060
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased serum testost... ORPHA:2959
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Hyperactivity, Ataxia, High palate OMIM:300983
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, Ataxia OMIM:614706
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Severe temper tantrums, Bradykinesia, Optic atrophy OMIM:619052
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Hypocalcemia, Short humerus, Short ribs, Talipes equinovarus... OMIM:607143
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Conjunctivitis, Abnormal T cell count, Abn... OMIM:613493
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Ankle flexion contracture, Knee flexion contracture, Spastic gait, Flexion contrac... ORPHA:320396
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Leukodystrophy, Hypomyelinating, 24
Cataract, Flexion contracture, Hypothyroidism, B lymphocytopenia OMIM:619851
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Pes cavus, Peripheral axonal neuropathy, Talipes equinovarus, ... OMIM:617087
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Depression, Abnormal epiphysis morphology, Abnormal circulating thyr... ORPHA:90674
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density ORPHA:37748
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Ileus, Splenomegaly, Bradycardia, Elevated circulating creatine kinase concentration,... OMIM:613327
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Alopecia of ... OMIM:201100
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Pelvic girdle muscle atrophy, Sparse pubic hair, ... ORPHA:3044
Juvenile Temporal Arteritis
Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Skeletal muscle atrophy ORPHA:101006
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemi... OMIM:615558
Smith-Magenis syndrome
Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Bilateral cryptorchidism, Muscle f... OMIM:619542
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Pes cavus, Dysphagia, Ataxia ORPHA:1171
Glycogen Storage Disease Iv
Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly, Portal hy... OMIM:232500
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Atrial ... ORPHA:401935
Catel-Manzke Syndrome
Highly arched eyebrow, Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, ... ORPHA:1388
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Depression, Retinal degeneration, Irritability, Ataxia, Vacu... OMIM:256730
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Feingold Syndrome Type 2
Short stature, Ventricular septal defect ORPHA:391646
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Ventricular septal defect OMIM:614326
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Hemochromatosis, Type 1
Alopecia, Cardiomyopathy, Increased circulating ferritin concentration, Azoospermia, Splenomegaly... OMIM:235200
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Bradycardia... ORPHA:542306
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect, Stroke, Atrial... OMIM:249270
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hypogonadism, External genital hypoplasia, Partial atrioventricular canal... OMIM:615996
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Ambiguous genita... ORPHA:1913
Noonan Syndrome 9
Sparse eyebrow, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Curly hair, Shor... OMIM:616559
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Neonatal death, Cryptorchidism, Ventricular septal defect OMIM:613730
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Long... OMIM:614407
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Distal lower limb amyotrophy, Upper limb muscle weakn... OMIM:609195
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Persistent fetal... OMIM:618775
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Cleft palate, Syndactyly OMIM:300484
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatospleno... ORPHA:231222
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Left ventricular hypertro... OMIM:615355
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, Impaired... OMIM:619313
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Woolly Hair Nevus
Congenital posterior occipital alopecia, Precocious puberty, Fine hair, Woolly scalp hair, Hetero... ORPHA:79414
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Spastic ataxia, Gait disturbance, Ataxia ORPHA:2572
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Timothy Syndrome
Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, C... OMIM:601005
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Striatonigral Degeneration, Infantile
Optic atrophy, Dysphagia, Choreoathetosis OMIM:271930
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Arrhythmia, Tachycardia, Hyperkalemia, Dysphagia, Hypocalcemia, Abnormal auton... ORPHA:94093
Hartnup Disorder
Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Glo... OMIM:234500
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Postnatal growth retardation, Cryptorchidism,... OMIM:179613
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy, Increased circulating ferritin concentration, Lethargy, Osteoporosis, Abn... ORPHA:79230
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Clinodactyly OMIM:300928
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Hyperammonemia, Splenomegaly, Lethargy, Neutropenia, Anorexia, Ane... ORPHA:79312
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal digit morphology, Abnormal fear-induced behavior, Pseudobulbar para... ORPHA:208441
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadism, Thrombocytop... ORPHA:848
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
8P23.1 Duplication Syndrome
Highly arched eyebrow, Tetralogy of Fallot, Adrenal insufficiency, Ventricular septal defect, Pul... ORPHA:251076
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Atrial septal defect, Short stature, Hypospadias, Patent ductus arteri... OMIM:618330
Wolfram-Like Syndrome
Optic atrophy, Depression, Peripheral axonal neuropathy, Gastrointestinal dysmotility, Progressiv... ORPHA:411590
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Micrognathia, Knee contracture, Hip contracture, Talipes, Congenital fin... OMIM:620351
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Gastroesophageal reflux, Bruxism, Talipes equinovarus, Hyperactivity, Short foot, Hip... OMIM:300434
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Bifid uvula, Retinal vascular tortuosity, Inability to walk, Ankle clonus, Cleft p... OMIM:618768
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Fasting hyperinsulinemia OMIM:619489
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Lambert Syndrome
Hypospadias, Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Glossopharyngeal Neuralgia
Depression, Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Abnormal glossophar... ORPHA:221098
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Emotional lability, Optic disc p... ORPHA:98890
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... OMIM:603554
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Sensory axonal neuropathy, Ataxia, Dysphagia ORPHA:329314
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Congestive heart failure, Irrit... ORPHA:3077
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Tyshchenko Syndrome
Supernumerary nipple, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect,... OMIM:615102
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
D-Glyceric Aciduria
Gastroesophageal reflux, Tongue thrusting, Bradycardia, Elevated circulating D-glyceric concentra... OMIM:220120
Morm Syndrome
Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy ORPHA:75858
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Low anterior hairline, Atrial septal defect, Ventricular septal defect OMIM:608227
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Microcornea, Increased HbA2 hemoglobin, Increased bone mineral density,... OMIM:616943
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Decreased circulating free fatty acid level, Polyphagi... ORPHA:276556
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Autonomic bladder dysfunction, Hypertrophic card... ORPHA:330001
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Melanocytic nevus, Ventricular septal defect, Pate... ORPHA:261120
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Limb ataxia, Gait ataxia, Emotional lability, Spastic ataxia, Decreased Achilles r... OMIM:613672
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon... ORPHA:90647
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Growth delay, Cryptorchidism, Ventricular septal defect OMIM:619908
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Tetralogy of Fallot, Hypogonadism, Cryptorchidism, Ventri... ORPHA:3306
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o... OMIM:616812
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal degeneration... OMIM:204200
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect OMIM:614876
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal external genitalia, Ventricular septal defect ORPHA:3469
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Pes cavus, Axonal degeneration/regenera... OMIM:609260
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Intrauterine growth retardation, Nail dystrophy, Ventricular septal defect... ORPHA:75389
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Lethargy, Delayed proximal femoral ep... ORPHA:90673
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Muscular ventricular septal defect, Short stature, Hydrocele testis, Spar... OMIM:620062
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of the ... ORPHA:431329
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Glutamine Deficiency, Congenital
Micromelia, Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly