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
decreased startle reflex Sox14em1(IMPC)Ccpcz HOM   Early adult 2.27×10-06
microphthalmia Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal auditory brainstem response Sox14em1(IMPC)Ccpcz HET   Early adult 4.27×10-06
decreased respiratory quotient Sox14em1(IMPC)Ccpcz HOM Early adult 2.55×10-05
abnormal thymus morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
limb grasping Sox14em1(IMPC)Ccpcz HOM Early adult 1.17×10-06
trunk curl Sox14em1(IMPC)Ccpcz HOM Early adult 5.78×10-06
abnormal seminal vesicle morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Sox14em1(IMPC)Ccpcz HET Early adult 0.00
microphthalmia Sox14em1(IMPC)Ccpcz HET Early adult 0.00
small heart Sox14em1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Sox14em1(IMPC)Ccpcz HET Early adult 0.00
decreased locomotor activity Sox14em1(IMPC)Ccpcz HOM Early adult 1.15×10-08
increased lung tissue damping Sox14em1(IMPC)Ccpcz HOM   Early adult 9.96×10-05
small kidney Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal behavior Sox14em1(IMPC)Ccpcz HOM Early adult 1.71×10-08
increased airway resistance Sox14em1(IMPC)Ccpcz HOM Early adult 1.04×10-06
abnormal skin morphology Sox14em1(IMPC)Ccpcz HOM Early adult 3.27×10-05
increased freezing behavior Sox14em1(IMPC)Ccpcz HOM Early adult 1.90×10-07
enlarged lymph nodes Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal gait Sox14em1(IMPC)Ccpcz HOM Early adult 1.17×10-06
abnormal eye morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
increased aggression Sox14em1(IMPC)Ccpcz HOM Early adult 5.78×10-06
abnormal heart morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
increased prepulse inhibition Sox14em1(IMPC)Ccpcz HET   Early adult 3.99×10-05
abnormal thymus morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
hyperactivity Sox14em1(IMPC)Ccpcz HOM Early adult 4.35×10-22
abnormal snout morphology Sox14em1(IMPC)Ccpcz HOM Early adult 4.38×10-05
abnormal vocalization Sox14em1(IMPC)Ccpcz HOM Early adult 2.47×10-06
abnormal eye morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
abnormal lymph node morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
small seminal vesicle Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
small kidney Sox14em1(IMPC)Ccpcz HET Early adult 0.00
male infertility Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
increased grip strength Sox14em1(IMPC)Ccpcz HOM   Early adult 2.18×10-06
decreased thigmotaxis Sox14em1(IMPC)Ccpcz HOM Early adult 5.07×10-08
increased lung tissue damping Sox14em1(IMPC)Ccpcz HET Early adult 3.01×10-05
decreased body weight Sox14em1(IMPC)Ccpcz HOM Early adult 5.11×10-12

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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 Whole Body Lateral Orientation

27 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

54 Images

X-ray

XRay Images Skull Lateral Orientation

27 Images

X-ray

XRay Images Forepaw

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
Dystonia 31
Abnormal posturing, Difficulty walking, Leg dystonia, Writer's cramp, Depression, Craniofacial dy... OMIM:619565
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Ethanolaminosis
Cardiomegaly OMIM:227150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Resting tremor, Hyperac... ORPHA:3077
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
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Congenital Toxoplasmosis
Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Hearing impairment, Thrombocytop... ORPHA:858
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mmep Syndrome
Microphthalmia, Cryptorchidism, Ventricular septal defect ORPHA:3434
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Ectopic kidney, Optic disc pallor, Cryptorchidism, Ventricular sept... OMIM:613730
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level, Hyperactivity, Failure to thri... OMIM:274270
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Classic Galactosemia
Premature ovarian insufficiency, Jaundice, Hepatomegaly, Gait imbalance, Male infertility, Depres... ORPHA:79239
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Abnormal posturing, Inability to walk, Gait disturbance, Attention deficit hyperact... ORPHA:216866
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Cryptorchidism OMIM:615524
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depre... ORPHA:248111
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Depression, Gait disturbance, Gait ataxia, Restlessness, Weight... ORPHA:157941
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:615297
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Urinary bladder sphincter ... ORPHA:320401
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Sensorineural hearing impairment, Patent foramen ovale, Low-set ears, Bilateral c... OMIM:618652
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Oromandibular dystonia, Writer's cramp, Torticollis, Inability to walk, Depre... OMIM:128100
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:86893
Laryngeal Neuroendocrine Tumor
Anorexia, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Chronic noninfectious ly... ORPHA:100083
Immunodeficiency 104
Hepatomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy, T lymphocytop... OMIM:608971
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Tremor, Ataxia, Small for gestational age OMIM:278780
Congenital Rubella Syndrome
Microphthalmia, Jaundice, Anemia, Hepatomegaly, Sensorineural hearing impairment, Aplasia/Hypopla... ORPHA:290
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia ORPHA:1574
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Kerion Celsi
Lymphadenopathy ORPHA:499
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Attrv30M Amyloidosis
Cardiomyopathy, Abnormal autonomic nervous system physiology, Abnormal renal physiology, Cardiome... ORPHA:85447
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Sensorineural hearing impairment, C... OMIM:256550
Niemann-Pick Disease, Type A
Irritability, Sea-blue histiocytosis, Hepatomegaly, Inability to walk, Lymphadenopathy, Bone-marr... OMIM:257200
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, EEG abnormality, Hypertrophic cardiomyopathy OMIM:614096
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrotia, Macroorchidism OMIM:300886
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Tremor, Dystonia, Dysphagia OMIM:304700
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Splenomegaly, Cardiomegaly OMIM:269920
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Myoclonic-Astatic Epilepsy
Abnormal emotion, Microphthalmia, Hyperactivity, Tremor, Unsteady gait, Ataxia, Attention deficit... ORPHA:1942
Spinocerebellar Ataxia Type 8
Limb ataxia, Bradykinesia, Urinary incontinence, Depression, Aspiration, Impotence, Gait ataxia, ... ORPHA:98760
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Unilateral microphthalmos, Thrombocytopenia, S... OMIM:615085
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Hyperactivity, Emotional lability, Tremor, Gait ataxia, Decreased testicular size, H... OMIM:300354
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Pierpont Syndrome
Short nose, Microphthalmia, Decreased body weight, Failure to thrive, Cryptorchidism, Micropenis OMIM:602342
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Recurrent otitis media, Unilateral renal agenesis, Hypsarrhythmia, Patent foramen... OMIM:618494
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Low-set ears OMIM:616570
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hepatomegaly, Pancreatitis, Dilated cardiomyopathy, Hepatic steatosis, Microcytic... OMIM:618805
Classic Hodgkin Lymphoma
Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly, Weigh... ORPHA:391
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Hearing impairment, Splenomegaly, Cardiomegaly, Hepa... OMIM:252920
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Dystonia, Dysphagia, Choreoathetosis, Micropenis OMIM:308350
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia ORPHA:3469
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Ventricular hypertrophy, Tetralogy of Fallot, Posteriorly rotated ears, Atrial se... OMIM:300887
Perry Syndrome
Inappropriate behavior, Hypoventilation, Bradykinesia, Akinesia, Depression, Tremor, Dystonia, Di... OMIM:168605
Meckel Syndrome, Type 8
Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Low-set ears, Pericar... OMIM:613885
Nanophthalmos
Microphthalmia ORPHA:35612
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... ORPHA:1215
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Immunodeficiency 27A
Anorexia, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesen... OMIM:209950
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Methylmalonic aciduria, Normochromic anemia, Homocystinuria, Failure to thriv... OMIM:614857
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Microphthalmia, Ventricular septal defect, Leukemia OMIM:602501
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Failure to thrive, Cryptorchidism, Wide nasal bridge OMIM:600118
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Bradykinesia, Urinary incontinence, Resting tremor, Titubation, Gait disturba... ORPHA:225147
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hearing impairment, Microphthalmia, Hematuria OMIM:120433
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera... ORPHA:2470
Congenital Fibrinogen Deficiency
Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventr... ORPHA:335
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Microphthalmia, Optic nerve hypoplasia, Pa... OMIM:609053
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno... OMIM:617514
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Intention tremor, Ataxia, Hypogonadotropic hypogonadism, Dysmetria ORPHA:48431
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Abnormal autonomic nervous system physio... ORPHA:85451
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Rhabdoid Tumor
Irritability, Anemia, Lymphadenopathy, Hematuria, Thrombocytopenia, Weight loss, Neoplasm of the ... ORPHA:69077
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cofs Syndrome
Microphthalmia, Wide nasal bridge, Hypogonadism ORPHA:1466
Pierpont Syndrome
Microphthalmia, Cryptorchidism, Small for gestational age ORPHA:487825
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Attention deficit hyperactivit... ORPHA:3000
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly, Dysphagia, Weight loss ORPHA:50251
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Macrotia OMIM:613576
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Optic disc pallor OMIM:616171
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Failure to ... OMIM:602450
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Trisomy 13
Optic atrophy, Microphthalmia, Anophthalmia, Abnormal antihelix morphology, Sensorineural hearing... ORPHA:3378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Microphthalmia, Cardiomyopathy OMIM:613155
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Primary ... ORPHA:85450
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria OMIM:619053
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ... OMIM:301108
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hearing impairment, Anemia OMIM:618838
Biemond Syndrome Type 2
Microphthalmia, Hypospadias, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Splenomegaly, Weigh... ORPHA:545
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Vesicoureteral reflux, Low-set ear... ORPHA:85284
Mogs-Cdg
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Absent brainstem auditory response... ORPHA:79330
2Q24 Microdeletion Syndrome
Failure to thrive, Microphthalmia, Small for gestational age ORPHA:1617
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Leishmaniasis
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Le... ORPHA:507
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Cat-Eye Syndrome
Hearing impairment, Microphthalmia, Hydronephrosis ORPHA:195
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Simple ear, Bicuspid aortic valve, Horseshoe... OMIM:619318
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Agitation, Bilateral microphthalmos, Hyperactivity, Ataxia, Restlessness, Overfriendl... ORPHA:369891
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Joubert Syndrome 37
Microphthalmia, Hepatomegaly, Decreased testicular size, Obesity, Hydronephrosis, Cryptorchidism,... OMIM:619185
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Microphthalmia, Anemia, Pelvic kidney, Mic... OMIM:603467
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Cardiomegaly, Te... OMIM:235200
Primary Myelofibrosis
Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocyt... ORPHA:824
Moebius Syndrome
Microphthalmia, Dysdiadochokinesis, Gait disturbance, Decreased testicular size, Dysphagia, Micro... OMIM:157900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Microphthalmia, Isolated 5
Optic disc drusen, Microphthalmia, Optic disc pallor OMIM:611040
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Fatigable weakness, Cardiomegaly, Elevated urinary 3-hydroxy... ORPHA:42
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Low-set ears, Hypertrophic card... OMIM:300280
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Undetectable visual evoked potentials, Ventricular hypertrophy, Hypertrophic cardio... OMIM:619051
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Hypospadias, Low-set, posteriorly rotated ears, Vesicoureteral ref... ORPHA:494344
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ... OMIM:212140
Optic Atrophy 11
Hyperactivity, Optic nerve hypoplasia, Athetosis, Gait apraxia, Stereotypical body rocking, Ataxi... OMIM:617302
Braddock-Carey Syndrome 2
Hearing impairment, Atresia of the external auditory canal, Microphthalmia, Thrombocytopenia OMIM:619981
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Optic nerve hypoplasia, Low-set ears, Secundum atrial septal defect, Cardiomeg... OMIM:620609
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
3Q29 Microdeletion Syndrome
Short nose, Microphthalmia, Hypospadias, Depression, Gait disturbance, Failure to thrive, Attenti... ORPHA:65286
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Hearing impairment, Microphthalmia OMIM:610023
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Low-set, posteriorly rotated ears, Septo-optic dysplasia ORPHA:1528
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect, Low-set ears ORPHA:93267
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Sensorineural hearing impairment, Microphthalmia, Hematuria ORPHA:1473
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Pelvic ki... OMIM:601186
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hearin... ORPHA:77298
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Membranous subvalvular aortic stenosis, Biliar... ORPHA:3191
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Hearing impairment, Oligosacchariduria ORPHA:3137
Refsum Disease
Microphthalmia, Sensorineural hearing impairment, Cardiomyopathy, Splenomegaly, Renal insufficiency ORPHA:773
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Aggressive Systemic Mastocytosis
Anorexia, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukoc... ORPHA:98850
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Obesity, Hypogonadism, Cryptorchidism ORPHA:363741
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis, Optic nerve hypoplasia, EEG abnormality, Microphthalmia OMIM:614833
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:42642
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Failure to thrive, Splenomegal... OMIM:609981
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Caspase 8 Deficiency
Failure to thrive, Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy OMIM:614702
Fanconi Anemia, Complementation Group E
Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hearing impairment, Abno... OMIM:600901
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Long nose, Hyperactivity, Low frustration tolerance, Gait ataxia, Microphallus, Motor stereotypy,... OMIM:300486
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia, Und... OMIM:618804
Microphthalmia, Syndromic 13
Microphthalmia, Anteverted ears OMIM:300915
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Failure to thrive, Absence of lymph node germinal center, L... ORPHA:277
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Compulsive behaviors, Gait disturbance, Attention deficit hyperactivity disorder,... OMIM:620098
Meckel Syndrome, Type 4
Microphthalmia, Renal cyst, Bile duct proliferation, Atrial septal defect, Ventricular septal defect OMIM:611134
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:100025
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Inability to walk, Optic nerve hypoplasia, Exaggerated startle response, Failure to... OMIM:617864
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Multiple bladder diverticula, Recurrent otitis media, Microtia, Hearing impairmen... ORPHA:2728
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Baraitser-Winter Syndrome 1
Microphthalmia, Sensorineural hearing impairment, Low-set ears, Aortic valve stenosis, Bicuspid a... OMIM:243310
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Failure to thrive, Splen... ORPHA:397596
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Low frustration tolerance, Stereotypical h... ORPHA:163681
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Nodular goiter, Dysphagia, Weight loss, Goiter ORPHA:142
Pediatric-Onset Graves Disease
Polydipsia, Irritability, Jaundice, Hepatomegaly, Hyperactivity, Emotional lability, Neutropenia ... ORPHA:525731
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Patent foramen ovale, Pulmonic stenosis, Renal hypoplasia, Lens coloboma, Cupped ear OMIM:618914
Frontonasal Dysplasia 1
Low-set ears, Conductive hearing impairment, Microphthalmia, Tetralogy of Fallot OMIM:136760
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Low-set ears, Vent... ORPHA:85194
Stiff Person Spectrum Disorder
Emotional lability, Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Increased urinary porphobilinogen,... ORPHA:100924
47,Xyy Syndrome
Male infertility, Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, Impulsivity, Varicoce... ORPHA:8
Fanconi Anemia, Complementation Group A
Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hearing impairment, Abno... OMIM:227650
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia OMIM:615771
Hemophagocytic Lymphohistiocytosis, Familial, 1
Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Failure to thriv... OMIM:267700
Pontine Tegmental Cap Dysplasia
Aspiration, Failure to thrive, Head titubation, Ataxia, Dysphagia, Dysmetria OMIM:614688
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Developmental And Epileptic Encephalopathy 38
Aspiration, Irritability, Dystonia, Ataxia OMIM:617020
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Sensorineural hearing impairment, Cardiomyopathy, Nephrotic syndrome, Left ventricu... OMIM:617713
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Leukodystrophy, Hypomyelinating, 13
Irritability, Failure to thrive, Ataxia, Exaggerated startle response OMIM:616881
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, F... OMIM:619644
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Hemophagocytic Lymphohistiocytosis, Familial, 2
Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Fa... OMIM:603553
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cryptorchidism, Obesity, Hypogonadism OMIM:601794
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Overfolded helix, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Macrotia, Mi... ORPHA:324410
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Graves Disease
Irritability, Hyperactivity, Polyphagia, Weight loss, Goiter OMIM:275000
Acute Promyelocytic Leukemia
Anorexia, Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Addictive alcohol use, ... ORPHA:520
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian neoplasm, Anemia, Failure to thrive, Ataxia, Ovarian carcinoma OMIM:617883
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Sensorineur... OMIM:602782
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Decr... OMIM:618495
Mosaic Trisomy 9
Microphthalmia, Abnormal liver lobulation, Dextrocardia, Hypoplasia of penis, Abnormal heart valv... ORPHA:99776
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Microphthalmia, Cryptorchidism, Small for gestational age OMIM:214150
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Isosexual precocious puberty, Microphthalmia, Waddling gait ORPHA:2788
Citrullinemia Type Ii
Irritability, Hepatomegaly, Pancreatitis, Decreased body mass index, Hyperactivity, Tremor, Hepat... ORPHA:247585
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Asplenia, Failure to thrive, Hypoplastic spleen, Micropenis OMIM:602361
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Cat Eye Syndrome
Microphthalmia, Tricuspid atresia, Biliary atresia, Vesicoureteral reflux, Low-set ears, Total an... OMIM:115470
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Neuroblastoma
Irritability, Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary van... ORPHA:635
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Left ventricular hypertrophy OMIM:613153
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microtia, Microphthalmia, Hydroureter, Hypoplasia of penis ORPHA:2547
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Compulsive behaviors, Attention deficit hyperactivity disorder, Cryptorchidism, W... ORPHA:404440
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Sensorineural hearing impairment, Abnormal renal physiology OMIM:266500
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Legionnaires Disease
Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow hy... ORPHA:549
Warburg Micro Syndrome 4
Microphthalmia, Inability to walk, Decreased testicular size, Small scrotum, Cryptorchidism, Micr... OMIM:615663
Warburg Micro Syndrome 3
Short nose, Microphthalmia, Inability to walk, Hypoplastic labia minora, Decreased testicular siz... OMIM:614222
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Hypertr... OMIM:201475
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Pseudotrisomy 13 Syndrome
Microphthalmia, Tricuspid atresia, Dextrocardia, Low-set ears, Cryptorchidism, Renal hypoplasia, ... OMIM:264480
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Optic disc pallor OMIM:251270
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Low-set ears, Atresia of the external auditory canal, Tetral... ORPHA:2328
Adams-Oliver Syndrome
Cirrhosis, Microphthalmia, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital hepatic ... ORPHA:974
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Low-set ears, Hypertrophic cardiomyopathy, Hydronephrosis, Posteriorly rotated ears,... OMIM:616897
Rett Syndrome, Congenital Variant
Irritability, Tongue thrusting, Aspiration, Athetosis, Dystonia, Motor stereotypy, Bruxism OMIM:613454
Scrub Typhus
Lymphadenopathy, Tremor, Splenomegaly, Renal insufficiency, Lethargy ORPHA:83317
Fryns Microphthalmia Syndrome
Macrotia, Microphthalmia, Anophthalmia OMIM:600776
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Leukopenia, Ataxia, Splenom... ORPHA:381
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Tremor, Gait disturbance, Leuk... OMIM:214500
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Cockayne Syndrome Type 1
Optic atrophy, Abnormality of peripheral nerve conduction, Hepatomegaly, Anemia, Anophthalmia, Ab... ORPHA:90321
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Pelvic kidney, Ventricular septal defect, Hypoplasia of the iris, Hydronephrosis,... OMIM:613001
Fanconi Anemia, Complementation Group N
Aplastic anemia, Microphthalmia, Ectopic kidney, Unilateral renal agenesis, Acute myeloid leukemi... OMIM:610832
Marden-Walker Syndrome
Microphthalmia, Dextrocardia, Hypospadias, Low-set ears, Renal hypoplasia, Cryptorchidism, Microp... OMIM:248700
Pseudomyxoma Peritonei
Lymphadenopathy, Weight loss, Abnormal peritoneum morphology ORPHA:26790
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy, Weight loss ORPHA:2221
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Hype... OMIM:615387
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Hearing impairment, Cardiomegaly, Abnormal concentrat... ORPHA:391428
Fanconi Anemia, Complementation Group C
Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Ventricular septal defec... OMIM:227645
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Emotional lability, Aspiration, Tremor, Impulsivity, Failure... ORPHA:2131
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Orthostatic hypotension, Increased urinary N-acetylglucosamin... OMIM:268800
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Inability to walk, Exaggerated startle response OMIM:620114
Vici Syndrome
Abnormal posturing, T lymphocytopenia, Failure to thrive, Decreased proportion of CD4-positive he... OMIM:242840
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,... OMIM:608800
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia, Thro... OMIM:620423
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Developmental Delay With Variable Neurologic And Brain Abnormalities
Macrotia, Microphthalmia OMIM:619694
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microphthalmia, Hypospadias, Hyperactivity, Bifid scrotum, Small for g... OMIM:619148
1Q21.1 Microdeletion Syndrome
Microphthalmia, Depression, Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Attention d... ORPHA:250989
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Mevalonic Aciduria
Fluctuating splenomegaly, Progressive cerebellar ataxia, Anemia, Lymphadenopathy, Leukocytosis, N... OMIM:610377
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C... ORPHA:99812
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia ORPHA:276183
Tay-Sachs Disease
Inability to walk, Depression, Tremor, Exaggerated startle response, Gait disturbance, Precocious... ORPHA:845
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Microphthalmia, Microcytic anemia, Dysphagia OMIM:612379
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Lingual dystonia, Abn... ORPHA:2388
Baraitser-Winter Syndrome 2
Hearing impairment, Abnormal pinna morphology, Microphthalmia OMIM:614583
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Temtamy Syndrome
Microphthalmia, Low-set ears ORPHA:1777
Fanconi Anemia, Complementation Group D2
Annular pancreas, Microphthalmia, Anemia, Ectopic kidney, Small for gestational age, Pancytopenia... OMIM:227646
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short nose, Microphthalmia, Elevated urinary aminoisobutyric acid, Beta-alaninuria, Dystonia, Ele... OMIM:614105
Lethal Congenital Contracture Syndrome 10
Low-set ears, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Att... OMIM:617914
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Lissencephaly 8
Optic atrophy, Microphthalmia OMIM:617255
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Coombs-positive hemolytic anemia, ... OMIM:614034
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Beck-Fahrner Syndrome
Cardiomegaly, EEG abnormality, Ventricular septal defect, Protruding ear OMIM:618798
Kapur-Toriello Syndrome
Microphthalmia, Low-set ears, Cryptorchidism, Conductive hearing impairment, Atrial septal defect... OMIM:244300
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin... ORPHA:97289
Acute Monoblastic/Monocytic Leukemia
Anorexia, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Weig... ORPHA:514
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Portal hypertension, Splenomeg... ORPHA:465508
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Stevenson-Carey Syndrome
Low-set ears, Atrial septal defect, Microphthalmia, Posteriorly rotated ears OMIM:611961
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia OMIM:617244
Aregenerative Anemia
Lymphadenopathy, Erythroid hypoplasia, Pancytopenia, Depression, Emotional lability, Abnormal pro... ORPHA:101096
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele, Nephrolithiasis OMIM:301060
Thyroid Lymphoma
Lymphadenopathy, Goiter, Dysphagia ORPHA:97285
Deafness, X-Linked 7
Hearing impairment, Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral ... OMIM:301018
Nephroblastoma
Hematuria, Lymphadenopathy, Aniridia, Weight loss, Neoplasm of the liver ORPHA:654
Cockayne Syndrome B
Optic atrophy, Microphthalmia, Hepatomegaly, Decreased nerve conduction velocity, Renal insuffici... OMIM:133540
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Tremor, Splenomegaly ORPHA:3162
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Mend Syndrome
Microphthalmia, Low-set ears, Abnormal auditory evoked potentials, Aortic valve stenosis, Abnorma... ORPHA:401973
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegal... OMIM:615122
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Vestibular areflexia, Hypochromic microcytic anemia, Absent brainstem auditory ... ORPHA:3240
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ... OMIM:620103
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Hearing impairment, Cardiome... ORPHA:349
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Attention deficit hyperactivity disorder, Agitation, Microphthalmia, Aggressive behavior OMIM:152950
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Failure to thrive, Thrombocytopenia, Decreased proportion of ... OMIM:618048
Seckel Syndrome 2
Small for gestational age, Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri... OMIM:610125
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Sensorineural hearing impairment, Abnormal auditory evoked potential... ORPHA:529799
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Sensorineural hearing impairment, Abnormal auditory evoked potential... ORPHA:529808
Meckel Syndrome, Type 5
Microphthalmia, Renal cyst, Bile duct proliferation OMIM:611561
Ring Chromosome 10 Syndrome
Microphthalmia, Aganglionic megacolon, Abnormal antihelix morphology, Low-set ears, Large earlobe ORPHA:1438
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Long-chain... OMIM:608836
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Microphthalmia, Micropenis, Small for gestational age OMIM:610756
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Increased B cell count, Increased T cell ... ORPHA:98813
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Sensorineural hearing impairment, Cardiomyopathy, Abnormal autonomic nervou... OMIM:105210
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Roifman Syndrome
Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Low-set ears, Abnormal heart morphology, Posteriorly rotated ears, EEG ... OMIM:610758
Brain-Lung-Thyroid Syndrome