Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... |
ORPHA:98807 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
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 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Myelopathy, Spastic paraparesis |
OMIM:159580 |
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 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
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 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Pulmonary hypoplasia |
OMIM:615228 |
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 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia |
OMIM:614096 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
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 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
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 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619528 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia |
OMIM:274210 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia |
OMIM:232700 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility |
ORPHA:1646 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Mandibulofacial Dysostosis With Mental Retardation |
|
Downslanted palpebral fissures, Abnormality of the outer ear, Abnormal pinna morphology, Lower ey... |
OMIM:248400 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Microtia, Downslanted palpebral fissures, Lower eyelid coloboma, A... |
OMIM:248390 |
Tuberculosis |
|
Abnormal lung morphology |
ORPHA:3389 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Hydrocephalus, Periodontitis, EEG abnormality, Sparse bo... |
ORPHA:1008 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Orbital Margin, Hypoplasia Of |
|
Congenital extraocular muscle anomaly, Lacrimal duct atresia, Lower eyelid coloboma |
OMIM:165600 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |
Hydrocephalus With Associated Malformations |
|
Pulmonary hypoplasia |
OMIM:236640 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Sparse axillary hair... |
ORPHA:52901 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Distal Trisomy 14Q |
|
Abnormal lung lobation |
ORPHA:1705 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Corneal opacity, Microcornea |
ORPHA:2432 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
Aphalangy With Hemivertebrae |
|
Pulmonary hypoplasia |
OMIM:207620 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Cupped ear, Upper eyelid coloboma, Absent lacrimal punctum, Lipomas of eyelids, E... |
OMIM:167730 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Pulmonary hypoplasia |
OMIM:601160 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Fasciculations, Decreased fertility |
OMIM:313200 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility |
OMIM:617442 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy |
OMIM:300425 |
Autism |
|
Motor stereotypy |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia |
OMIM:619003 |
Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia, Ataxia |
OMIM:613909 |
Pineocytoma |
|
Hearing abnormality, Hydrocephalus, Increased CSF protein, Episodic ataxia |
ORPHA:251912 |
Treacher Collins Syndrome 4 |
|
Downslanted palpebral fissures, Conductive hearing impairment, Lower eyelid coloboma |
OMIM:618939 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia |
OMIM:224410 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia |
ORPHA:276183 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Eyelid coloboma, Spina bifida, Blepharophimosis, Aplasia/Hypop... |
ORPHA:1104 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Hypertriglyceridemi... |
OMIM:612526 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... |
OMIM:619868 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:253310 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Microtia, Upper eyelid coloboma, Anotia, Downslanted palpebral fissures, Lower eyelid... |
OMIM:616462 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Microtia, Upper eyelid coloboma, Limbal dermoid, Encephalocele |
ORPHA:398156 |
Barber-Say Syndrome |
|
Ablepharon, Ectropion, Abnormal pinna morphology, Aplasia/Hypoplasia of the eyebrow, Sparse or ab... |
ORPHA:1231 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Dystonia, Babinski sign, Jerky head movements, Spastic dysarthria, Spast... |
ORPHA:251282 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... |
OMIM:618433 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia |
OMIM:616733 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Ethmoidal encephalocele, Telecanthus, Eyelid coloboma, Low-set ears, Post... |
OMIM:607597 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Testicular atrophy, Parkinsonism with favorable response to dop... |
OMIM:157640 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus, Abnormality of the ear |
OMIM:600257 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Papilloma Of Choroid Plexus |
|
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma |
ORPHA:2807 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... |
OMIM:612310 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Ataxia, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotrop... |
OMIM:308750 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Optic atrophy |
OMIM:617830 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Hydrocephalus, Ventriculomegaly, Ataxia |
OMIM:618709 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, EEG abnormality, Myoclonus, Optic atrophy, Long eyelashes, Spasticity, Ventriculom... |
OMIM:617281 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Cupped ear, Low-set, post... |
ORPHA:246 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Macroorchidism, Oligospermia |
ORPHA:3000 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Pallister-Hall-Like Syndrome |
|
Pulmonary hypoplasia |
OMIM:241800 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia |
OMIM:617468 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Ataxia, Decreased serum testosterone concentration, Leydig cell insensitivity... |
OMIM:308700 |
Wolfram Syndrome 1 |
|
Sensorineural hearing impairment, Testicular atrophy, Ataxia, Hypothyroidism, Tremor, Optic atrop... |
OMIM:222300 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Orbital cyst, Eyelid coloboma |
OMIM:164180 |
Neu-Laxova Syndrome 2 |
|
Low-set ears, Ablepharon, Spina bifida |
OMIM:616038 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Intention tremor, Hypocholesterolemia |
OMIM:610539 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Developmental And Epileptic Encephalopathy 97 |
|
Stereotypical hand wringing, Tremor, Ventriculomegaly, Hypsarrhythmia |
OMIM:619561 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Hydrocephalus, Hemiplegia/hemiparesis, Ataxia |
ORPHA:99966 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Frontonasal Dysplasia 3 |
|
Upper eyelid coloboma, Low-set, posteriorly rotated ears, Absent eyebrow, Sparse eyelashes |
OMIM:613456 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
Episodic Ataxia Type 4 |
|
Ataxia, Frequent falls, Vertigo, Abnormal head movements, Incoordination |
ORPHA:79136 |
Pettigrew Syndrome |
|
Sensorineural hearing impairment, High-frequency hearing impairment, Hydrocephalus, Choreoathetos... |
OMIM:304340 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly |
ORPHA:293 |
Minicore Myopathy With External Ophthalmoplegia |
|
Pulmonary hypoplasia, Recurrent respiratory infections |
OMIM:255320 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis |
OMIM:601612 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... |
ORPHA:382 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia |
OMIM:614063 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Cerebral atrophy, Spasticity |
OMIM:617393 |
Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia, Dystonia |
OMIM:619150 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Temple Syndrome |
|
Flexion contracture, Small for gestational age, Truncal obesity, Hypertriglyceridemia, Hyperchole... |
OMIM:616222 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Downslanted palpebral fissures, Eyelid coloboma, Hearing impairment, Ptosis |
OMIM:268850 |
Ravine Syndrome |
|
Ataxia, Spasticity, Abnormal auditory evoked potentials |
ORPHA:99852 |
Fried Syndrome |
|
Spastic diplegia, Hearing impairment, Hydrocephalus, Macrotia |
ORPHA:85335 |
Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia |
OMIM:256050 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Truncal obesity, Hypercholesterolemia |
ORPHA:181393 |
Isochromosomy Yq |
|
Azoospermia, Male infertility |
ORPHA:98798 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head tremor, Chor... |
ORPHA:64753 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Frontofacionasal Dysplasia |
|
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... |
ORPHA:1791 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Arrhinencephaly, Telecanthus, Narrow palpebral fissure, Blepharophimosis |
OMIM:300073 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Alopecia, Hypogonadotropic hypogonadism, Diabetes mell... |
OMIM:235200 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Facial diplegia, Testicular atrophy, Frontal balding, Hypogonadism |
OMIM:160900 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Oculotrichoanal Syndrome |
|
Cryptophthalmos, Nasolacrimal duct obstruction, Upper eyelid coloboma |
ORPHA:2717 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Pulmonary hypoplasia |
OMIM:236500 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Protruding ear, Microtia, Sparse eyelashes, Stenosis of the extern... |
OMIM:616367 |
Bartsocas-Papas Syndrome 1 |
|
Ablepharon, Ectropion, Ankyloblepharon, Absent eyebrow, Upslanted palpebral fissure, Microtia, Cu... |
OMIM:263650 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... |
OMIM:619092 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary hypoplasia, Pulmonary artery atresia |
OMIM:618316 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615415 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Pulmonary hypoplasia |
ORPHA:2847 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
OMIM:263210 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Hydrocephalus, Optic atrophy, Tremor, Spastic tetraparesis |
OMIM:619470 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Pulmonary hypoplasia, Recurrent respiratory infections, Abnormal pulmonary artery m... |
ORPHA:2257 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Teebi Hypertelorism Syndrome 2 |
|
Hearing impairment, Upper eyelid coloboma, Thick eyebrow, Ptosis |
OMIM:619736 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3035 |
Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Involuntary movements, Spasticity, Cerebral cortical atrophy |
OMIM:617820 |
Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Protruding ear, Short palpebral fissure, Lower eyelid coloboma, He... |
OMIM:608572 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Abnormal pyramidal sign, Optic atrophy, Hypsarrhythmia, Low-set ears, Abnormality ... |
OMIM:300884 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Nager Syndrome |
|
Microtia, Aplasia/Hypoplasia of the eyebrow, Low-set, posteriorly rotated ears, Downslanted palpe... |
ORPHA:245 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Stereotypical hand wringing, Chorea |
OMIM:618760 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Thanatophoric Dysplasia |
|
Pulmonary hypoplasia |
ORPHA:2655 |
Nephronophthisis 2 |
|
Pulmonary hypoplasia |
OMIM:602088 |
Familial Spontaneous Pneumothorax |
|
Pneumothorax, Abnormal pleura morphology |
ORPHA:2903 |
Huntington Disease-Like 3 |
|
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... |
ORPHA:157946 |
Gómez-López-Hernández Syndrome |
|
Low-set ears, Hydrocephalus, Alopecia of scalp, Ataxia |
ORPHA:1532 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Hypercholesterolemia... |
OMIM:208920 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1046 |
Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... |
ORPHA:171673 |
Abcd Syndrome |
|
Neonatal death, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, To... |
OMIM:600501 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hypoplasia |
OMIM:611812 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
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Optic atrophy, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Developmental And Epileptic Encephalopathy 30 |
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Motor stereotypy |
OMIM:616341 |
1Q41Q42 Microdeletion Syndrome |
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Pulmonary hypoplasia |
ORPHA:250999 |
Megalencephaly, Autosomal Dominant |
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Hydrocephalus |
OMIM:155350 |
Platyspondylic Dysplasia, Torrance Type |
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Pulmonary hypoplasia |
ORPHA:85166 |
Multiple Pterygium Syndrome, X-Linked |
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Pulmonary hypoplasia |
OMIM:312150 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Pulmonary hypoplasia |
OMIM:617895 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
Acalvaria |
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Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Atkin-Flaitz Syndrome |
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Macroorchidism |
ORPHA:1193 |
Alg3-Cdg |
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Pulmonary hypoplasia |
ORPHA:79321 |
Hydrocephalus With Cerebellar Agenesis |
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Hydrocephalus |
OMIM:307010 |
Ablepharon Macrostomia Syndrome |
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Ablepharon, Cryptophthalmos, Absent eyebrow, Microtia, Atresia of the external auditory canal, Ab... |
ORPHA:920 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
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Motor stereotypy, Anteverted ears, Macrotia |
OMIM:615541 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
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Aplasia/Hypoplasia of the lungs |
ORPHA:2725 |
Pyruvate Dehydrogenase E2 Deficiency |
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Ataxia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia |
OMIM:245348 |
Corneal Dystrophy, Meesmann, 1 |
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Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Brunet-Wagner Neurodevelopmental Syndrome |
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Optic atrophy, Motor stereotypy, Cerebral atrophy, Cerebellar atrophy |
OMIM:619690 |
Fuchs Endothelial Corneal Dystrophy |
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Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Deafness, X-Linked 2 |
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Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Sclerocornea, Autosomal Dominant |
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Sclerocornea |
OMIM:181700 |
Fetal Akinesia Deformation Sequence |
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Pulmonary hypoplasia |
ORPHA:994 |
Fraser Syndrome 1 |
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Myelomeningocele, Low-set ears, Hydrocephalus, Cryptophthalmos, Abnormal pinna morphology, Absent... |
OMIM:219000 |
Glycoprotein Storage Disease |
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Splenomegaly |
OMIM:232900 |
Aarskog-Scott Syndrome |
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Large earlobe, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, El... |
OMIM:305400 |
Apolipoprotein C-Ii Deficiency |
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Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Ataxia, Impotence, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor,... |
ORPHA:99027 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Motor stereotypy, Brain atrophy, Tremor, Spasticity, Low-set ears |
OMIM:618718 |
Peroxisome Biogenesis Disorder 3B |
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Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Band Heterotopia |
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Hydrocephalus, Ventriculomegaly, Spasticity |
OMIM:600348 |
Krabbe Disease |
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Hypertonia, Hydrocephalus, EEG abnormality, Decreased nerve conduction velocity, Decerebrate rigi... |
OMIM:245200 |
Multiple Pterygium Syndrome, Lethal Type |
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Pulmonary hypoplasia |
OMIM:253290 |
Anterior Segment Dysgenesis 5 |
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Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Agnathia-Otocephaly Complex |
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Pulmonary hypoplasia |
OMIM:202650 |
Fragile X Syndrome |
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Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Squalene Synthase Deficiency |
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Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Intellectual Developmental Disorder, X-Linked 21 |
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Macroorchidism |
OMIM:300143 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... |
OMIM:125250 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology |
ORPHA:2570 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
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Sensorineural hearing impairment, Hydrocephalus, Poor fine motor coordination, Hand tremor, Babin... |
ORPHA:99947 |
Craniofacial Conodysplasia |
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Hydrocephalus |
ORPHA:85168 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
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Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Juvenile cataract, Male hypogonadism, Macroorchidism |
OMIM:300055 |
Neu-Laxova Syndrome 1 |
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Ablepharon, Short umbilical cord, Hydranencephaly, Small placenta, Absent eyelashes, Macrotia, Pt... |
OMIM:256520 |
Central Neurocytoma |
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Hydrocephalus, Ataxia, Babinski sign, Tinnitus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Mandibuloacral Dysplasia |
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Increased adipose tissue around the neck, Lipoatrophy, Increased circulating free fatty acid leve... |
ORPHA:2457 |
Hyperprolinemia, Type I |
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Motor stereotypy, Ataxia |
OMIM:239500 |
Severe Congenital Nemaline Myopathy |
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Pulmonary hypoplasia |
ORPHA:171430 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma |
ORPHA:1473 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
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Stereotypical hand wringing, Cerebral atrophy, Spasticity |
ORPHA:500545 |
Autism, Susceptibility To, X-Linked 2 |
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Motor stereotypy |
OMIM:300495 |
Odontochondrodysplasia 1 |
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Pulmonary hypoplasia, Recurrent respiratory infections |
OMIM:184260 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Progressive cerebellar ataxia, Spinocerebellar atrophy, Head tremor, Spastic dysarthria, Optic at... |
ORPHA:95433 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
Achondrogenesis |
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Aplasia/Hypoplasia of the lungs |
ORPHA:932 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Pulmonary hypoplasia |
ORPHA:86822 |
Usher Syndrome Type 1 |
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Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Abn... |
ORPHA:231169 |
X-Linked Intellectual Disability, Shashi Type |
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Macroorchidism |
ORPHA:85286 |
Mohr-Tranebjaerg Syndrome |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Obesity, Hypercholesterolemia |
ORPHA:254531 |
Ablepharon-Macrostomia Syndrome |
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Ablepharon, Cryptophthalmos, Absent eyebrow, Microtia, first degree, Hearing impairment, Absent e... |
OMIM:200110 |
Beemer Lethal Malformation Syndrome |
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Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
Baker-Gordon Syndrome |
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Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements |
OMIM:618218 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Epithelial Recurrent Erosion Dystrophy |
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Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... |
ORPHA:293381 |
Morgagni-Stewart-Morel Syndrome |
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Obesity, Action tremor, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Holoprosencephaly 5 |
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Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Macrotia, Synophrys,... |
OMIM:609637 |
Branchiootic Syndrome 1 |
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Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Bresek Syndrome |
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Hydrocephalus, Protruding ear, Cryptorchidism, Alopecia, Optic nerve hypoplasia, Neonatal death, ... |
ORPHA:85284 |
Lipodystrophy, Familial Partial, Type 2 |
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Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of truncal su... |
OMIM:151660 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, External ear malformation, Eyelid coloboma, Hearing impairment, Ptosis |
ORPHA:1647 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1263 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Lissencephaly 5 |
|
Hydrocephalus, Spastic paraplegia, Optic atrophy, Hearing impairment, Occipital encephalocele |
OMIM:615191 |
Huntington Disease-Like 1 |
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Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cerebral cortical atrophy, Jer... |
ORPHA:157941 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Opisthotonus, Choreoathetosis, Spasticity, Podagra, Abnormality of extrapyram... |
OMIM:300322 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hydrocephalus, Cryptorchidism, Hypertonia |
ORPHA:250994 |
Helsmoortel-Van Der Aa Syndrome |
|