Gene Summary

Name:
SRY (sex determining region Y)-box 14
Synonyms:
N/A

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
abnormal eye morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
small kidney Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
decreased body weight Sox14em1(IMPC)Ccpcz HOM Early adult 5.11×10-12
abnormal thymus morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal snout morphology Sox14em1(IMPC)Ccpcz HOM Early adult 8.17×10-05
increased airway resistance Sox14em1(IMPC)Ccpcz HOM Early adult 1.52×10-07
abnormal heart morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
increased prepulse inhibition Sox14em1(IMPC)Ccpcz HET   Early adult 3.22×10-05
enlarged thymus Sox14em1(IMPC)Ccpcz HET Early adult 0.00
trunk curl Sox14em1(IMPC)Ccpcz HOM Early adult 1.04×10-05
decreased startle reflex Sox14em1(IMPC)Ccpcz HOM   Early adult 4.73×10-06
abnormal gait Sox14em1(IMPC)Ccpcz HOM Early adult 2.10×10-06
decreased thigmotaxis Sox14em1(IMPC)Ccpcz HOM Early adult 5.58×10-08
enlarged thymus Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
male infertility Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
increased lung tissue damping Sox14em1(IMPC)Ccpcz HET Early adult 2.85×10-05
small kidney Sox14em1(IMPC)Ccpcz HET Early adult 0.00
abnormal vocalization Sox14em1(IMPC)Ccpcz HOM Early adult 1.62×10-06
enlarged lymph nodes Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
increased aggression Sox14em1(IMPC)Ccpcz HOM Early adult 5.23×10-06
small seminal vesicle Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
increased freezing behavior Sox14em1(IMPC)Ccpcz HOM Early adult 3.39×10-09
limb grasping Sox14em1(IMPC)Ccpcz HOM Early adult 2.10×10-06
abnormal behavior Sox14em1(IMPC)Ccpcz HOM Early adult 3.63×10-08
increased grip strength Sox14em1(IMPC)Ccpcz HOM   Early adult 2.18×10-06
abnormal thymus morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
microphthalmia Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
increased lung tissue damping Sox14em1(IMPC)Ccpcz HOM   Early adult 1.04×10-05
abnormal lymph node morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
hyperactivity Sox14em1(IMPC)Ccpcz HOM Early adult 4.13×10-21
abnormal auditory brainstem response Sox14em1(IMPC)Ccpcz HET   Early adult 1.66×10-05
enlarged heart Sox14em1(IMPC)Ccpcz HET Early adult 0.00
small heart Sox14em1(IMPC)Ccpcz HET Early adult 0.00
abnormal skin morphology Sox14em1(IMPC)Ccpcz HOM Early adult 4.99×10-05
decreased locomotor activity Sox14em1(IMPC)Ccpcz HOM Early adult 1.14×10-08
microphthalmia Sox14em1(IMPC)Ccpcz HET Early adult 0.00

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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 Hind Leg and Hip

54 Images

X-ray

XRay Images Skull Lateral Orientation

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

54 Images

X-ray

XRay Images Forepaw

27 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

27 Images

Human diseases caused by Sox14 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sox14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Ethanolaminosis
Cardiomegaly OMIM:227150
Dystonia 31
Leg dystonia, Depression, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal pos... OMIM:619565
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis, Cough, Dyspnea ORPHA:60026
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Cough ORPHA:99977
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormality of the lymph nodes OMIM:136580
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, ... ORPHA:3077
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Hearing impairment, Microphthalmia, Anemia, Lymphadenopathy, Jaun... ORPHA:858
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Carcinoma Of Esophagus
Obesity, Weight loss, Lymphadenopathy, Cough ORPHA:70482
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Optic atrophy, Mitra... OMIM:616648
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Respiratory insufficiency, Hepatomegaly, Microphthalmia ORPHA:2432
Mmep Syndrome
Ventricular septal defect, Cryptorchidism, Microphthalmia ORPHA:3434
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy, Cough ORPHA:99976
Classic Galactosemia
Gait imbalance, Ataxia, Action tremor, Hepatomegaly, Postural tremor, Depression, Oligomenorrhea,... ORPHA:79239
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hodgkin Lymphoma
Ataxia, Hepatomegaly, Splenomegaly, Cough, Dyspnea, Weight loss, Lymphadenopathy ORPHA:98293
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Syndromic 12
Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Microphthalmia, Cryptorchidism OMIM:615524
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Failure to thrive secondary to recurren... OMIM:608971
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Opisthotonus, Aspiration pneumonia, Cough, Gait disturbance, Att... ORPHA:216866
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Microphthalmia OMIM:615771
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Depression,... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Tremor, Aggressive behavior, Wide nasal bridge OMIM:300983
Perry Syndrome
Apathy, Akinesia, Bradykinesia, Respiratory arrest, Depression, Central hypoventilation, Respirat... OMIM:168605
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Anophthalmia, Macrotia OMIM:221950
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Microphthalmia OMIM:615297
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Microphthalmia, Small for gestational age OMIM:278780
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Uraciluria, Microphthalmia, Lethargy OMIM:274270
Congenital Rubella Syndrome
Sensorineural hearing impairment, Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular s... ORPHA:290
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait ataxia, Aggressive beh... OMIM:609425
Neurooculocardiogenitourinary Syndrome
Sensorineural hearing impairment, Atrial septal defect, Ventricular septal defect, Patent foramen... OMIM:618652
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Microphthalmia OMIM:616570
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Kerion Celsi
Lymphadenopathy ORPHA:499
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Hyperactivity, Aggressive behavior OMIM:619470
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Methylmalonic aciduria, Homocystinuria, Tachypnea, Pulmonary arterial hyperten... OMIM:614857
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Combined Oxidative Phosphorylation Deficiency 33
Sensorineural hearing impairment, Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy,... OMIM:617713
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system... ORPHA:50251
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Huntington Disease-Like 1
Bradykinesia, Dysmetria, Depression, Gait disturbance, Gait ataxia, Weight loss, Abnormal posturing ORPHA:157941
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia ORPHA:1574
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic hormone excess, Exertiona... ORPHA:100083
Glycine Encephalopathy
Hyperglycinuria, Impulsivity, Irritability, Hyperactivity, Aggressive behavior, Lethargy OMIM:605899
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Neuraminidase Deficiency
Sensorineural hearing impairment, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary exc... OMIM:256550
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity, Micropenis ORPHA:75858
Rhabdoid Tumor
Neoplasm of the liver, Respiratory insufficiency, Hematuria, Thrombocytopenia, Weight loss, Anemi... ORPHA:69077
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Niemann-Pick Disease, Type A
Failure to thrive, Sea-blue histiocytosis, Inability to walk, Hepatomegaly, Splenomegaly, Athetos... OMIM:257200
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Hyperactivity, Micropenis, Hypospadias, Tremor, Gait ataxia, Aggressive behavi... OMIM:300354
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... ORPHA:320401
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly, Macrotia OMIM:300886
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Abnormal renal physiology, Nephropathy, Cardiomyopa... ORPHA:85447
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Tremor, Attention deficit hyperactivity ... ORPHA:1942
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Ataxia, Hyperglycinuria, Hyperactivity, Aggressive behavior OMIM:239500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Chronic lung disease, Nodu... ORPHA:319487
Fanconi Anemia, Complementation Group G
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Inability to walk, Blepharospasm, Depression, Tremor, Writer... OMIM:128100
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Respiratory insufficiency, Reduced vital capacity, Cardiomegaly OMIM:618654
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Chronic lung disease, Nodu... ORPHA:97290
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly OMIM:269920
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Pierpont Syndrome
Failure to thrive, Decreased body weight, Micropenis, Short nose, Microphthalmia, Cryptorchidism OMIM:602342
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Microphthalmia ORPHA:3469
Pseudo-Torch Syndrome 3
Apnea, Leukocytosis, Lymphadenitis, Respiratory insufficiency, Congenital thrombocytopenia, Prote... OMIM:618886
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Microphthalmia, Hepatic st... OMIM:618805
Classic Hodgkin Lymphoma
Ataxia, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Cough, Bone marrow hypocellularity... ORPHA:391
2Q24 Microdeletion Syndrome
Failure to thrive, Central apnea, Microphthalmia, Small for gestational age ORPHA:1617
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Depression, Anxiety, Aggre... ORPHA:485350
3Q29 Microdeletion Syndrome
Failure to thrive, Depression, Hypospadias, Anxiety, Gait disturbance, Short nose, Horseshoe kidn... ORPHA:65286
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, He... OMIM:252920
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Exertional dyspnea, Jaundice, Cardiom... ORPHA:615
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Optic disc pallor, Microphthalmia OMIM:616171
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Pleural effusion, Weigh... ORPHA:545
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low... OMIM:602450
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Failure to thrive, Hyperactivity, Short nose, Unsteady gait OMIM:617865
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Warburg Micro Syndrome 1
Failure to thrive, External genital hypoplasia, Microphthalmia, Cryptorchidism, Wide nasal bridge OMIM:600118
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Ventricular septal defect, Leukemia, Microphthalmia OMIM:602501
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Faciothoracogenital Syndrome
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia OMIM:227320
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Landau-Kleffner Syndrome
Impulsivity, Hyperactivity, Depression, Anxiety, Gait ataxia, Attention deficit hyperactivity dis... ORPHA:98818
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Weight l... ORPHA:100024
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... OMIM:615559
Immunodeficiency 64
Failure to thrive, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unre... OMIM:618534
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Tremor OMIM:618090
Nanophthalmos
Microphthalmia ORPHA:35612
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Hepatomegaly, Renal hypoplasia, Microphthalmia, Neonatal respiratory distress, Hypertr... OMIM:619053
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Resting tremor, Inappropriate crying, Abnormal posturing, Gait disturbance, Titubat... ORPHA:225147
Spinocerebellar Ataxia Type 8
Ataxia, Impotence, Bradykinesia, Limb ataxia, Depression, Gait ataxia, Unsteady gait, Aspiration,... ORPHA:98760
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Atrial septal defect, Decreased response to growth hormone stimula... OMIM:609053
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology,... ORPHA:2470
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Intention tremor, Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Crackles, Iron deficiency anemia, Cough, Restrictive ventilator... ORPHA:99931
Immunodeficiency 54
Failure to thrive, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Respiratory in... OMIM:609981
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Sin... OMIM:613179
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Developmental And Epileptic Encephalopathy 1
Micropenis, Choreoathetosis, Microphthalmia, Dyspnea, Dystonia OMIM:308350
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hearing impairment, Bilateral microphthalmos OMIM:608763
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Abnormal autonomic nervous system physiology, Restric... ORPHA:85451
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Impulsivity, Hyperactivity OMIM:617113
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal cent... ORPHA:277
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Immotile sperm, Reduced sperm motility, Wheezing, Cough, Male infertility, Chroni... OMIM:613807
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent sinusitis, Decr... OMIM:300853
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hepatomegaly, Hyperactivity, Tremor, Dystonia OMIM:615924
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Self-injurious behavior, Tremor, Paroxysmal bursts of laughter OMIM:618718
Immunodeficiency 7
Failure to thrive, Lymphadenopathy, Hypereosinophilia OMIM:615387
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Cofs Syndrome
Microphthalmia, Wide nasal bridge, Hypogonadism ORPHA:1466
Pierpont Syndrome
Cryptorchidism, Microphthalmia, Small for gestational age ORPHA:487825
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Macrotia OMIM:613576
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Pleural effu... OMIM:235200
Microphthalmia, Syndromic 9
Atrial septal defect, Cryptorchidism, Multilobulated spleen, Pulmonic stenosis, Single ventricle,... OMIM:601186
Anaplastic Thyroid Carcinoma
Respiratory distress, Goiter, Cough, Upper airway obstruction, Nodular goiter, Dyspnea, Weight lo... ORPHA:142
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia OMIM:612716
Trisomy 13
Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal helix morphology, Crypt... ORPHA:3378
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... OMIM:603903
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nephrolithiasis, Self-injurious behavior, Bradykinesia, Hyperactivity, Inappropriate behavior, Se... OMIM:619827
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Respiratory arrest, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Cardi... OMIM:600649
Caspase 8 Deficiency
Failure to thrive, Asthma, Splenomegaly, Pneumonia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:607271
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Microphthalmia, Obesity, Hypogonadism ORPHA:141333
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Atrial septal defect, Cryptorchidism, Decreased response to growth... OMIM:603467
Bresek Syndrome
Low-set ears, Protruding ear, Cryptorchidism, Optic nerve hypoplasia, Renal hypoplasia, Decreased... ORPHA:85284
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatomegaly, Decreased glomerular filtration rate, Abnormality of the lymph ... ORPHA:85450
Abcd Syndrome
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... OMIM:600501
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, Respirat... ORPHA:79330
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Precocious puberty, Decreased body weight, Hyperactivity, Aggressive behavior, ... OMIM:300958
Isolated Optic Nerve Hypoplasia/Aplasia
EEG abnormality, Optic nerve hypoplasia, Pseudopapilledema, Unilateral microphthalmos, Optic disc... ORPHA:137902
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Unilateral microphthalmos, Simple ear, Horseshoe kidney, Bilateral microph... OMIM:619318
47,Xyy Syndrome
Asthma, Impulsivity, Cryptorchidism, Hyperactivity, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Refsum Disease
Sensorineural hearing impairment, Splenomegaly, Respiratory insufficiency, Renal insufficiency, M... ORPHA:773
Scrub Typhus
Splenomegaly, Cough, Tremor, Renal insufficiency, Restrictive ventilatory defect, Dyspnea, Lympha... ORPHA:83317
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Anxiety, Truncal ataxia,... ORPHA:228360
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Respiratory insufficiency, Low-set, posteriorly rotated e... ORPHA:3191
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... OMIM:615513
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Attention deficit hyperactivity d... ORPHA:3000
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Lymphadenop... OMIM:619164
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Microphthalmia OMIM:617914
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Elevated urinary 4-hydroxybutyric acid, Anxiety, ... OMIM:271980
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter, Obesity ORPHA:411515
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Hyperactivity, Self-mutilation, Small for gestational age, Hypos... OMIM:123450
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Pulmonary veno... ORPHA:3092
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy ORPHA:66661
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Hepatomegaly, Fatigable weakness, Dicarboxylic aciduria, Elev... ORPHA:42
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... ORPHA:54251
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Hearing impairment, Cardiomegaly OMIM:618838
Alpha-N-Acetylgalactosaminidase Deficiency
Hearing impairment, Recurrent pneumonia, Oligosacchariduria, Cardiomegaly ORPHA:3137
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Cat-Eye Syndrome
Hearing impairment, Hydronephrosis, Microphthalmia ORPHA:195
Joubert Syndrome 37
Hepatomegaly, Microphthalmia, Micropenis, Decreased testicular size, Hydronephrosis, Obesity, Cry... OMIM:619185
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Failure to thrive, Lymphopenia, Hepatomegaly, Jaundice, Ab... ORPHA:276
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Abnormal posturing OMIM:304700
Tularemia
Respiratory distress, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical lymphade... ORPHA:3392
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Decreased body weight, Hepatomegaly, Hyperactivity, Tremor, Attention deficit hyperactivity disor... OMIM:618342
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Recurrent pneumonia, Bro... OMIM:240500
Pseudomyxoma Peritonei
Respiratory insufficiency, Weight loss, Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Cryptorchidism, Microtia, Proteinuria, Microphthalmia, Neonatal asphyxia, H... ORPHA:2728
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Panic attack, Head tremor, Craniofacial dystonia, Writer's cramp, Di... ORPHA:420492
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Decreased carnitine level in liver, Hypertrophic cardio... OMIM:212140
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, Failure to thrive... OMIM:618987
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Premature ovarian insufficiency ORPHA:100025
Moebius Syndrome
Respiratory distress, Micropenis, Hypogonadotropic hypogonadism, Dysdiadochokinesis, Gait disturb... OMIM:157900
Sandestig-Stefanova Syndrome
Angulated antihelix, EEG abnormality, Muscular ventricular septal defect, Underdeveloped tragus, ... OMIM:618804
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased B cell count, Bronchiectasis, Lymphadenopathy, Increased proportion... OMIM:618982
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly OMIM:619064
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Pneumonia, Cardiomegaly OMIM:601005
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatospleno... OMIM:619644
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Falls, Difficulty walking, Emotional lability ORPHA:3198
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Thrombocytopenia, Microphthalmia OMIM:619981
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Hypospadias, Low-set, posteriorly rotated ears, Optic atrophy, Ventricular septal... ORPHA:494344
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Impulsivity, Hyperactivity, Gait ataxia, Aggressive behavior, Dystonia ORPHA:500180
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormality of the lymph nodes ORPHA:33111
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Microphthalmia, Syndromic 13
Abnormal pinna morphology, Anteverted ears, Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Hearing impairment, Microphthalmia OMIM:610023
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent sinusitis, Anemia, Thrombocytopenia... OMIM:613101
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Optic atrophy, Hematuria, Microphthalmia ORPHA:1473
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Low-set ears, Microphthalmia ORPHA:93267
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Tachypnea, Dicarb... OMIM:201475
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Hyperactivity, Failure to thrive, Aggressi... OMIM:615286
2Q23.1 Microdeletion Syndrome
Ataxia, Self-injurious behavior, Hypoplasia of penis, Hyperactivity, Cryptorchidism, Paroxysmal b... ORPHA:228402
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Atrioventricular canal defect, Microtia, first degree, Cupped ear, Tetralog... OMIM:600123
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Hyperactivity, Decreased response to growth hormone stimulation test, Anxiety,... ORPHA:485405
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Precocious puberty, Hyperactivity, Aggressive behavior ORPHA:457260
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Autoimmune hem... OMIM:618495
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Pediatric-Onset Graves Disease
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Hyperactiv... ORPHA:525731
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Cryptorchidism, Hypospadias, Anophthalmia, Ventricular septal defect, Microp... ORPHA:77298
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Intellectual Developmental Disorder, Autosomal Dominant 43
Failure to thrive, Ataxia, Impulsivity, Hyperactivity, Anxiety, Aggressive behavior, Dystonia, Wi... OMIM:616977
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Apnea, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Ch... OMIM:608643
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparathyroidism, Chronic noninfectiou... ORPHA:97289
Leishmaniasis
Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopeni... ORPHA:507
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Microphthalmia, Obesity, Cryptorchidism, Hypogonadism ORPHA:363741
Hypocomplementemic Urticarial Vasculitis
Ataxia, Airway obstruction, Hepatomegaly, Splenomegaly, Hematuria, Cough, Proteinuria, Renal insu... ORPHA:36412
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology ORPHA:482
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, ... ORPHA:83469
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenom... OMIM:612840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Respiratory insufficiency, Microphthalmia OMIM:613153
Fanconi Anemia, Complementation Group E
Neutropenia, Microphthalmia, Cryptorchidism, Thrombocytopenia, Hearing impairment, Horseshoe kidn... OMIM:600901
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ataxia, Hyperactivity, Short nose, Aggressive behavior, Bilateral microphthalmos, Cryptorchidism,... ORPHA:369891
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hyperactivity, Unilateral renal agenesis, Gonadal dysgenesis, Self-biting, Ag... ORPHA:3306
Pfapa Syndrome
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidn... OMIM:306955
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Ataxia, Hyperactivity, Small for gestational age, Gait disturbance, Inappropriate... OMIM:614104
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Nephrotic syndrome, Lymphocytosis, Abnormality of the lymph nodes, Lymphadenit... ORPHA:911
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ortho... ORPHA:2041
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hepatomegaly, Hyperactivity, Cirrhosis, Tremor, Gait ataxia, Respiratory failure, Limb dy... ORPHA:363400
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dyspnea, Goiter, Lymphadenopathy, Stridor ORPHA:97285
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Anxiety, Attention deficit hyperactivity disorder, Microphthalmia, Cryptorchidism, Wide nasal bridge ORPHA:404440
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Micropenis, Long nose, Gait ataxia, Cryptorchidism, Microphallus,... OMIM:300486
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Intellectual Developmental Disorder, X-Linked 21
Short nose, Impulsivity, Hyperactivity, Macroorchidism OMIM:300143
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Recurrent pneumonia, Microphthalmia, Cryptorchidism OMIM:214150
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Depression, Emotional lability, Erythro... ORPHA:101096
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... OMIM:105210
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst, Microphthalmia, Bile duct proliferation OMIM:611134
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Chediak-Higashi Syndrome
Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Macula... OMIM:214500
Baraitser-Winter Syndrome 1
Sensorineural hearing impairment, Bicuspid aortic valve, Aortic valve stenosis, Cryptorchidism, M... OMIM:243310
Frontonasal Dysplasia 1
Conductive hearing impairment, Low-set ears, Tetralogy of Fallot, Microphthalmia OMIM:136760
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventric... OMIM:115197
Histiocytosis-Lymphadenopathy Plus Syndrome
Sensorineural hearing impairment, Histiocytosis, Atrial septal defect, Decreased response to grow... OMIM:602782
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Rieger anomaly, Abnormal auditory evoked potentials OMIM:109120
Infantile Neuroaxonal Dystrophy
Ataxia, Impulsivity, Hyperactivity, Aspiration pneumonia, Apneic episodes in infancy, Gait distur... ORPHA:35069
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Spondylo-Ocular Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Microph... ORPHA:85194
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Weight loss, Goiter, Irritability OMIM:275000
Fanconi Anemia, Complementation Group A
Neutropenia, Microphthalmia, Cryptorchidism, Thrombocytopenia, Hearing impairment, Horseshoe kidn... OMIM:227650
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Macrotia OMIM:600776
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, EEG abnormality, Cirrhosis, Leukopenia, Tetralogy of Fallot,... ORPHA:974
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Cupped ear, Renal hypoplasia, Patent foramen ovale, Microphthalmia, Lens coloboma OMIM:618914
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Opisthotonus, Self-mutilation, Short nose, Gait... OMIM:103050
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Acute respiratory distress syndrome, Severe B lymphocytopenia,... OMIM:620005
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Legionnaires Disease
Ataxia, Pancreatitis, Lymphopenia, Splenomegaly, Respiratory insufficiency, Hematuria, Cough, Hep... ORPHA:549
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Respiratory distress, Ataxia, Exaggerated startle response, Anxiety, Dystonia, ... ORPHA:438216
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Microphthalmia, Hypogonadism OMIM:601794
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenop... ORPHA:353298
Joubert Syndrome 14
Renal cyst, Ataxia, Irritability, Microphthalmia OMIM:614424
Refsum Disease, Classic
Sensorineural hearing impairment, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology OMIM:266500
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Overriding aorta, Cardiomegaly OMIM:617022
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Precocious puberty, Hepatomegaly, Hyperactivity, Self-mutilation, Low frustration toleran... ORPHA:163681
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Overfolded helix, Mitral valve prolapse, Macrotia, Abnormal atrioventricul... ORPHA:324410
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Meckel Syndrome, Type 8
Low-set ears, Anophthalmia, Microphthalmia OMIM:613885
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Nephritis, Cervical lymphadenopathy, Hematuria, H... OMIM:614034
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Microphthalmia, Isolated 5
Optic disc drusen, Microphthalmia OMIM:611040
Mosaic Trisomy 9
Atrial septal defect, Cryptorchidism, Hypoplasia of penis, Abnormal liver lobulation, Multiple re... ORPHA:99776
Chromosome 10Q26 Deletion Syndrome
Broad-based gait, Hyperactivity, Small for gestational age, Micropenis, Wide nasal bridge, Aggres... OMIM:609625
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center, ... OMIM:608184
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Isosexual precocious puberty, Waddling gait, Microphthalmia ORPHA:2788
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hyperactivity, Hypoplasia of penis, Cachexia, Tremor, Aggressive behavior, Decr... ORPHA:85293
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Impulsivity, Decreased response to growth hormone stimulation test, Hyperactiv... ORPHA:363528
Gracile Bone Dysplasia
Failure to thrive, Micropenis, Hypoplastic spleen, Microphthalmia, Aniridia, Asplenia OMIM:602361
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Cryptorchidism, Micropenis, Ventricular septal defect, D... OMIM:264480
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Small for gestational age, Bifid scrotum, Hypospadias, Penoscrotal transposition, ... OMIM:619148
Lymphatic Filariasis
Hydrocele testis, Nephrotic syndrome, Orchitis, Urethral obstruction, Abnormality of the scrotum,... ORPHA:2035
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Self-mutilation, Obesity, Cryptorchidism, Obstructive sleep apnea ORPHA:412035
Myopathy With Extrapyramidal Signs
Ataxia, Hepatomegaly, Hyperactivity, Leukocytosis, Splenomegaly, Tremor, Difficulty walking, Chor... OMIM:615673
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Low-set, posteriorly rotated ears, Microphthalmia ORPHA:1528
Tay-Sachs Disease
Apathy, Exaggerated startle response, Aspiration OMIM:272800
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Gomez-Lopez-Hernandez Syndrome
Ataxia, Self-injurious behavior, Decreased response to growth hormone stimulation test, Hyperacti... OMIM:601853
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Cardiomegaly, Hepatic steatosis OMIM:255120
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Adams-Oliver Syndrome 2
Optic atrophy, Low-set ears, Protruding ear, Microphthalmia OMIM:614219
Hemophagocytic Lymphohistiocytosis, Familial, 1
Failure to thrive, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Thrombocytop... OMIM:267700
1Q21.1 Microdeletion Syndrome
Failure to thrive, Depression, Anxiety, Attention deficit hyperactivity disorder, Hydronephrosis,... ORPHA:250989
Warburg Micro Syndrome 4
Inability to walk, Micropenis, Decreased testicular size, Microphthalmia, Cryptorchidism, Small s... OMIM:615663
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Microphthalmia, Hypoplasia of penis, Microtia ORPHA:2547
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Failure to thrive, Decreased body weight, Hyperactivity, Micropenis, Shuffling ga... OMIM:300534
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Long-chain dicarboxylic aciduria, Overfol... OMIM:608836
Cat Eye Syndrome
Tricuspid atresia, Low-set ears, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis,... OMIM:115470
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Congenital macroorchidism, Self-biting OMIM:300624
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Large fleshy ears, Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Pleural ef... OMIM:616897
Ciliary Dyskinesia, Primary, 9
Cough, Chronic rhinitis, Recurrent sinusitis, Male infertility, Chronic sinusitis, Ciliary dyskin... OMIM:612444
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Failure to thrive, Ataxia, Respiratory distress, Hyperactivity, Asthma, Inten... ORPHA:209905
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Kapur-Toriello Syndrome
Hypoplasia of penis, Tetralogy of Fallot, Atresia of the external auditory canal, Ventricular sep... ORPHA:2328
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent pneumonia, Neutropenia,... OMIM:150550
Stevenson-Carey Syndrome
Atrial septal defect, Central hypoventilation, Microphthalmia, Low-set ears, Posteriorly rotated ... OMIM:611961
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Thrombo... ORPHA:3240
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Oligosaccha... ORPHA:308552
Acute Promyelocytic Leukemia
Neutropenia, Leukocytosis, Metrorrhagia, Leukopenia, Hematuria, Thrombocytopenia, Weight loss, Pr... ORPHA:520
Hemophagocytic Lymphohistiocytosis, Familial, 2
Failure to thrive, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leuk... OMIM:603553
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... ORPHA:824
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Recurrent pneu... OMIM:615122
Omenn Syndrome
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Ab... ORPHA:39041
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Hypoplasia of the i... OMIM:613001
Glycogen Storage Disease Ii
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Splenomegaly, Respiratory insuffi... OMIM:232300
Hartsfield Syndrome
Respiratory insufficiency, Low-set, posteriorly rotated ears, Microphthalmia ORPHA:2117
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Optic disc pallor, Microphthalmia OMIM:251270
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pneumonia, Cardiomegaly, Abnorm... ORPHA:95430
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Marden-Walker Syndrome
Cryptorchidism, Micropenis, Hypospadias, Dextrocardia, Renal hypoplasia, Microphthalmia, Low-set ... OMIM:248700
Leigh Syndrome With Nephrotic Syndrome
EEG with focal spikes, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Renal cyst,... ORPHA:255249
Acquired Hypertrichosis Lanuginosa
Weight loss, Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Chromosome Xq13 Duplication Syndrome
Asthma, Hyperactivity, Anxiety, Autoimmune thrombocytopenia, Attention deficit hyperactivity diso... OMIM:301069
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Griscelli Syndrome
Ataxia, Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hep... ORPHA:381
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Aspiration OMIM:272750
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Mediastinal lymphadenopathy, Cough, Tachypnea, Intercost... ORPHA:91359
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Primum atrial septal defect, Right ventricular hyper... ORPHA:1329
Fanconi Anemia, Complementation Group C
Neutropenia, Microphthalmia, Cryptorchidism, Anemia, Thrombocytopenia, Ventricular septal defect,... OMIM:227645
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Central apnea, Hemolytic anemia, Abnormal auditory evoked poten... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Central apnea, Hemolytic anemia, Abnormal auditory evoked poten... ORPHA:529808
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Leukocytosis, Pancytopenia, Cryptorchidism, Lymphadenopathy, A... ORPHA:99812
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
X-Linked Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Impotence, Inappropriate sexual behavior, Hyperactivity, G... ORPHA:43
Felty Syndrome
Sinusitis, Hepatomegaly, Rhinitis, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia... ORPHA:47612
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Microtia, Tachypnea, Low-set ears, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity OMIM:301013
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis, Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular car... ORPHA:465508
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Micropenis, Abnormally large globe, Attention deficit hyperactivity disorder, Cryp... OMIM:618504
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Recurrent pneumonia, Lymphadenopathy OMIM:616651
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Cryptorchidism, Anemia, Anophthalmia, Optic at... ORPHA:90321
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis