Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Pulmonary hypoplasia |
OMIM:615228 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia |
OMIM:614096 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia |
OMIM:274210 |
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 dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Stereotypy |
OMIM:617787 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Ataxia, Hearing impairment |
OMIM:271250 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Deafness, X-Linked 6 |
|
Cochlear malformation, Hearing impairment |
OMIM:300914 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Downslanted palpebral fissures, Lower eyelid coloboma, Abnormality... |
OMIM:248390 |
Mandibulofacial Dysostosis With Mental Retardation |
|
Abnormality of the outer ear, Abnormality of the pinna, Downslanted palpebral fissures, Lower eye... |
OMIM:248400 |
Tuberculosis |
|
Abnormal lung morphology |
ORPHA:3389 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Spastic tetraplegia, Hearing impairment |
OMIM:258700 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Hearing impairment, Periodontitis, Hydrocephalus, EEG abnorm... |
ORPHA:1008 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Congenital extraocular muscle anomaly, Lower eyelid coloboma |
OMIM:165600 |
Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Corneal Hypesthesia, Familial |
|
Recurrent corneal erosions, Decreased corneal sensation |
OMIM:122450 |
Hydrocephalus With Associated Malformations |
|
Pulmonary hypoplasia |
OMIM:236640 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Mental Retardation, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Distal Trisomy 14Q |
|
Abnormal lung lobation |
ORPHA:1705 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Upper eyelid coloboma, Absent lacrimal punctum, Ectopic lacrimal punctum,... |
OMIM:167730 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor |
ORPHA:98807 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Aphalangy With Hemivertebrae |
|
Pulmonary hypoplasia |
OMIM:207620 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Large for gestational age |
ORPHA:2432 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... |
ORPHA:98960 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Stereotypy |
OMIM:606053 |
Autism, Susceptibility To, X-Linked 3 |
|
Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Stereotypy |
OMIM:300425 |
Autism |
|
Stereotypy |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Stereotypy |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Stereotypy |
OMIM:608636 |
Congenital unilateral pulmonary hypoplasia |
|
Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous ... |
ORPHA:2258 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Pulmonary hypoplasia |
OMIM:601160 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... |
OMIM:617862 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Fasciculations, Decreased fertility |
OMIM:313200 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy |
OMIM:300271 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Ataxia, Infertility, Azoospermia |
OMIM:613909 |
Pineocytoma |
|
Hearing abnormality, Episodic ataxia, Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia |
OMIM:619003 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment, Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:618939 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Spina bifida, Eyelid colob... |
ORPHA:1104 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia |
OMIM:224410 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia |
ORPHA:276183 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus, Abnormality of the ear |
OMIM:600257 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Barber-Say Syndrome |
|
Ectropion, Telecanthus, Abnormality of the pinna, Hearing impairment, Sparse or absent eyelashes,... |
ORPHA:1231 |
Mental Retardation, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:253310 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs |
ORPHA:1548 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia |
OMIM:616733 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Spasticity, Increased CSF protein |
OMIM:203450 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Precocious puberty, Long penis |
ORPHA:3000 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Fraxe Intellectual Disability |
|
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Prominent ear helix |
ORPHA:100973 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements, Vertigo |
ORPHA:71518 |
Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Corneal Endothelial Dystrophy |
|
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... |
OMIM:217700 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Spastic diplegia, Stereotypy |
OMIM:617830 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Rigidity, Facial palsy, Bradykinesia, Sensorineural hea... |
OMIM:157640 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Ablepharon-Macrostomia Syndrome |
|
Ablepharon, Absent eyebrow, Absent eyelashes, Cryptophthalmos, Microtia, third degree |
OMIM:200110 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis |
ORPHA:2807 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion |
OMIM:608470 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Babinski sign, Jerky head movements, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spa... |
ORPHA:251282 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia |
OMIM:617468 |
Smith-Magenis syndrome |
|
Stereotypy |
DECIPHER:8 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Ankyloblepharon, Cryptophthalmos |
OMIM:123570 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Macrotia, Hyperkinetic movements |
ORPHA:397933 |
Familial pterygium of the conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Optic atrophy, Myoclonus, Macrotia, Long eyelashes, Ventriculomegaly, ... |
OMIM:617281 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Macrotia, Anteverted ears, Stereotypy |
OMIM:615541 |
Pallister-Hall-Like Syndrome |
|
Pulmonary hypoplasia |
OMIM:241800 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypsarrhythmia, Ventriculomegaly |
OMIM:619561 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Stereotypy, Ataxia, Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Low-set, posteriorly rotated ears, Downslanted palpebral fissures,... |
ORPHA:246 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Optic atrophy, Diabetes insipidus, Sensorineural hearing impairment, Ataxia, ... |
OMIM:222300 |
Developmental And Epileptic Encephalopathy 36 |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Hypsarrhythmia, Abnormal pyramidal s... |
OMIM:300884 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... |
OMIM:601369 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Frontonasal Dysplasia 3 |
|
Upper eyelid coloboma, Sparse eyelashes, Absent eyebrow, Low-set, posteriorly rotated ears |
OMIM:613456 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Ataxia, Hydrocephalus, Hemiplegia/hemiparesis |
ORPHA:99966 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis |
OMIM:601612 |
Granular Corneal Dystrophy Type Ii |
|
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... |
ORPHA:98963 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Albinism, Hearing impairment |
OMIM:600501 |
N-Acetylaspartate Deficiency |
|
Truncal ataxia, Stereotypy |
OMIM:614063 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Episodic Ataxia Type 4 |
|
Frequent falls, Abnormal head movements, Vertigo, Ataxia, Incoordination |
ORPHA:79136 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, High-frequency hearing impairment, Choreoathetosis, Ventriculomegaly, ... |
OMIM:304340 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Minicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... |
ORPHA:240103 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Stereotypy, Spasticity, Cerebral atrophy |
OMIM:617393 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Ptosis, Downslanted palpebral fissures, Hearing impairment, Eyelid coloboma, Spina bifida occulta |
OMIM:268850 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly, Severe sensorineural hearing impairment |
OMIM:604213 |
Macular Corneal Dystrophy |
|
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
Fried Syndrome |
|
Spastic diplegia, Macrotia, Hydrocephalus, Hearing impairment |
ORPHA:85335 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Spasticity |
ORPHA:99852 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... |
ORPHA:293603 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Pulmonary hypoplasia |
OMIM:236500 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Chromosome 3Q29 Deletion Syndrome |
|
Macrotia, Posteriorly rotated ears, Stereotypy, Low-set ears, Gait ataxia |
OMIM:609425 |
Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia |
OMIM:256050 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Matthew-Wood Syndrome |
|
Pulmonary hypoplasia, Abnormal lung morphology |
ORPHA:2470 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Spastic Paraparesis And Deafness |
|
Hypogonadism, Cataract |
OMIM:312910 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Sparse eyelashes, Low-set ears, Lower eyelid coloboma, Stenosis of... |
OMIM:616367 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atr... |
OMIM:619092 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Ataxia, Slowed slurred speech, Progressive sensorineural hearing impairment |
OMIM:172500 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Oculoauriculofrontonasal Syndrome |
|
Limbal dermoid, Conductive hearing impairment, Upper eyelid coloboma, Microtia |
ORPHA:398156 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Oculotrichoanal Syndrome |
|
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction |
ORPHA:2717 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Frontal balding, Facial diplegia, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Alopecia, Diabetes me... |
OMIM:235200 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ventriculomegaly, Ataxia, EEG abnor... |
OMIM:619150 |
Limbal Stem Cell Deficiency |
|
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Ectropion, Upslanted palpebral fissure, Ankyloblepharon, Absent eyebrow, Abs... |
OMIM:263650 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615415 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Telecanthus, Posteriorly rotated ears, Low-set ears, Eyelid coloboma |
OMIM:607597 |
Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Lower eyelid coloboma, Short palpebral fissure, Protruding ear, Bl... |
OMIM:608572 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Choreoathetosis, Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairm... |
OMIM:617519 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Pulmonary hypoplasia |
ORPHA:2847 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
OMIM:263210 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Nail dystrophy |
OMIM:613987 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypertonia, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... |
ORPHA:98962 |
Meckel Syndrome, Type 6 |
|
Pulmonary hypoplasia |
OMIM:612284 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3035 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary hypoplasia, Pulmonary artery atresia |
OMIM:618316 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Poor coordination |
OMIM:309548 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Optic atrophy, Spastic tetraparesis, Stereotypy |
OMIM:619470 |
Thanatophoric Dysplasia |
|
Pulmonary hypoplasia |
ORPHA:2655 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Pulmonary artery stenosis, Pulmonary hypoplasia |
OMIM:611812 |
Nager Syndrome |
|
Ptosis, Low-set, posteriorly rotated ears, Downslanted palpebral fissures, Lower eyelid coloboma,... |
ORPHA:245 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Amyotrophic lateral sclerosis, Spasticity, Stereotypy |
OMIM:612069 |
Nephronophthisis 2 |
|
Pulmonary hypoplasia |
OMIM:602088 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Baker-Gordon Syndrome |
|
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements |
OMIM:618218 |
Developmental And Epileptic Encephalopathy 30 |
|
Stereotypy |
OMIM:616341 |
Familial Spontaneous Pneumothorax |
|
Pneumothorax, Abnormal pleura morphology |
ORPHA:2903 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Recurrent respiratory infections, Pulmonary hypoplasia, Abnormal pulmonary artery m... |
ORPHA:2257 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Krabbe Disease |
|
Progressive spasticity, Optic atrophy, Decreased nerve conduction velocity, Hearing impairment, D... |
OMIM:245200 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia |
OMIM:312150 |
Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Flat cornea |
OMIM:217300 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:617895 |
Galactosemia Iv |
|
Prolonged neonatal jaundice, Cataract |
OMIM:618881 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Hearing impairment, Cryptophthalmos, Atresia of the external au... |
ORPHA:920 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology |
ORPHA:2570 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... |
ORPHA:457083 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1046 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Alg3-Cdg |
|
Pulmonary hypoplasia |
ORPHA:79321 |
Mental Retardation, Autosomal Dominant 48 |
|
Hypospadias, Highly arched eyebrow, Eczema, Dilated fourth ventricle, Abnormality of the pinna, S... |
OMIM:617751 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Optic atrophy, Hydrocephalus |
ORPHA:1538 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia |
ORPHA:250999 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2725 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progressive sensorineural... |
OMIM:125250 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:253290 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Hyperprolinemia, Type I |
|
Ataxia, Stereotypy |
OMIM:239500 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormal pyramidal sign, Clonus, Orthostatic hypotension, Dy... |
ORPHA:99027 |
Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia |
ORPHA:994 |
Deafness, X-Linked 2 |
|
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... |
OMIM:304400 |
Fraser Syndrome 1 |
|
Conductive hearing impairment, Upper eyelid coloboma, Morphological abnormality of the middle ear... |
OMIM:219000 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Cataract |
ORPHA:1875 |
Band Heterotopia |
|
Hydrocephalus, Spasticity, Ventriculomegaly |
OMIM:600348 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Hydranencephaly, Macrotia, Absent eyelashes, Small placenta, Stillbirth, Sp... |
OMIM:256520 |
Gómez-López-Hernández Syndrome |
|
Ataxia, Low-set ears, Alopecia of scalp, Hydrocephalus |
ORPHA:1532 |
Autism, Susceptibility To, X-Linked 2 |
|
Stereotypy |
OMIM:300495 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism, Cataract |
OMIM:254000 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... |
OMIM:604229 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Hypercholesterolem... |
OMIM:612526 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Spasticity, Cerebral atrophy |
ORPHA:500545 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... |
OMIM:616000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Juvenile cataract, Male hypogonadism |
OMIM:300055 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia |
ORPHA:171430 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Cataract, Splenomegaly |
ORPHA:79238 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Oculocerebrocutaneous Syndrome |
|
Eyelid coloboma, Orbital cyst |
OMIM:164180 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Huntington Disease-Like 3 |
|
Caudate atrophy, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor function, P... |
ORPHA:157946 |
Aarskog-Scott Syndrome |
|
Large earlobe, Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilat... |
OMIM:305400 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Optic atrophy, Babinski sign, Frequent falls, Hand tremor, Vocal cord paralysis,... |
ORPHA:99947 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Spastic dysarthria, Hearing impair... |
ORPHA:95433 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Stereotypy, Tremor, Brain atrophy, Spasticity, Low-set ears |
OMIM:618718 |
Galactosemia Ii |
|
Prolonged neonatal jaundice, Cataract |
OMIM:230200 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... |
OMIM:613270 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:932 |
Branchiootic Syndrome 1 |
|
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Branchial fi... |
OMIM:602588 |
Holoprosencephaly 5 |
|
Lobar holoprosencephaly, Holoprosencephaly, Macrotia, Syntelencephaly, Central diabetes insipidus... |
OMIM:609637 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Obesity, Hyperphagia, And Developmental Delay |
|
Stereotypy |
OMIM:613886 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Usher Syndrome Type 1 |
|
Subcortical cerebral atrophy, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, ... |
ORPHA:231169 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1263 |
Frontofacionasal Dysplasia |
|
Limbal dermoid, Upper eyelid coloboma, Ptosis, Telecanthus, Absent inner eyelashes, Aplasia/Hypop... |
ORPHA:1791 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Rigidity, Neuronal loss in central nervous system, Myoclonus, Stereotypy, Cerebral... |
OMIM:600795 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, ... |
OMIM:300322 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Fryns Microphthalmia Syndrome |
|
Macrotia, Neural tube defect, Abnormality of the ear |
OMIM:600776 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... |
ORPHA:465508 |
Helsmoortel-Van Der Aa Syndrome |
|
Narrow palpebral fissure, Ptosis, Low-set, posteriorly rotated ears, Downslanted palpebral fissur... |
OMIM:615873 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Babinski sign, Abnormality of somatosensory evoked potentials, Absent brainstem au... |
ORPHA:52368 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Bresek Syndrome |
|
Aganglionic megacolon, Neonatal death, Alopecia, Optic nerve hypoplasia, Hearing impairment, Hydr... |
ORPHA:85284 |
Epithelial Recurrent Erosion Dystrophy |
|
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... |
ORPHA:293381 |
Huntington Disease-Like 1 |
|
Clumsiness, Involuntary movements, Cerebellar atrophy, Jerky head movements, Frequent falls, Dysm... |
ORPHA:157941 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Chorea, Stereotypical hand wringing |
OMIM:618760 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Oculocerebrocutaneous Syndrome |
|
Ptosis, Hearing impairment, Hydrocephalus, External ear malformation, Eyelid coloboma |
ORPHA:1647 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... |
ORPHA:8 |
Central Neurocytoma |
|
Babinski sign, Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus |
ORPHA:73256 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... |
OMIM:619274 |
Microcephaly-Micromelia Syndrome |
|
Pulmonary hypoplasia |
OMIM:251230 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... |
OMIM:615234 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Toriello-Lacassie-Droste Syndrome |
|
Limbal dermoid, Aganglionic megacolon, Telecanthus, Epicanthus, Short palpebral fissure, Hearing ... |
ORPHA:3339 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Chorea, Stereotypy, Stereotypical hand wringing, Spasticity, Cerebral atrophy... |
OMIM:618917 |
Adult Krabbe Disease |
|
Clumsiness, Prolonged brainstem auditory evoked potentials, Babinski sign, Hoffmann sign, Frequen... |
ORPHA:206448 |
Polyembryoma |
|
Macroorchidism, Isosexual precocious puberty, Abdominal mass, Abnormality of the peritoneum |
ORPHA:180229 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:474 |
Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation |
OMIM:274600 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia |
ORPHA:1848 |
Lethal Congenital Contracture Syndrome 10 |
|
Pulmonary hypoplasia |
OMIM:617022 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Lissencephaly 5 |
|
Spastic paraplegia, Optic atrophy, Hydrocephalus, Hearing impairment |
OMIM:615191 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hypertonia, Hydrocephalus, Cryptorchidism |
ORPHA:250994 |
Congenital Hydrocephalus |
|
Optic atrophy, Colpocephaly, Posteriorly rotated ears, Ventriculomegaly, Sensorineural hearing im... |
ORPHA:2185 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Frequent falls, Decreased nerve conduction velocity, Lower limb spasticity, Tremor, T... |
ORPHA:206443 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Ankyloblepharon, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebr... |
ORPHA:1234 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia |
OMIM:619553 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio... |
OMIM:601596 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections |
OMIM:215520 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology, Vestibular hypofunction |
ORPHA:231183 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pulmonary hypoplasia |
OMIM:263200 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:93298 |
Masa Syndrome |
|
Paraplegia, Lower limb spasticity, Ventriculomegaly, Hydrocephalus, Spastic paraplegia |
OMIM:303350 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Absent facial hair, Hydrocephalus, H... |
ORPHA:2183 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism, Hypoplasia of penis |
ORPHA:1381 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Asymmetr... |
ORPHA:3063 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2635 |
Jeavons Syndrome |
|
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... |
ORPHA:139431 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... |
ORPHA:91348 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... |
OMIM:615703 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Pontocerebellar Hypoplasia, Type 11 |
|
Poor coordination, Macrotia, Stereotypy, Ataxia, Spasticity, Limb ataxia |
OMIM:617695 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Acrofrontofacionasal Dysostosis |
|
Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
ORPHA:1784 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform discharges, Hyp... |
ORPHA:88616 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, Anemia of inadequate production, Macroorchidism, postpubertal, Adrenocorticotropi... |
ORPHA:91349 |
Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy |
OMIM:615637 |
Fraser Syndrome 3 |
|
Cryptophthalmos |
OMIM:617667 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Pulmonary hypoplasia, Respiratory infections in early life |
ORPHA:96179 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Eczema, Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hypert... |
ORPHA:352490 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:93299 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pulmonary hypoplasia, Pleural effusion |
OMIM:616897 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Macrotia, Hearing impairment, Hydrocephalus... |
ORPHA:2701 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Ptosis, Downslanted palpebral fissures, Posteriorly rotated ears, Exencephaly, Low-set ears, Eyel... |
ORPHA:2211 |
4Q21 Microdeletion Syndrome |
|
Long eyelashes, Hearing impairment, Ventriculomegaly, Stereotypy, Tremor, Generalized hirsutism, ... |
ORPHA:238750 |
Papillary Tumor Of The Pineal Region |
|
Hearing abnormality, Episodic ataxia, Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Macrotia, Sparse eyebrow, Ventriculomegaly, Thick eyebrow, EEG abnormality, Recurrent hand flapping |
OMIM:617268 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Fraser Syndrome |
|
Conductive hearing impairment, Death in infancy, Myelomeningocele, Low-set, posteriorly rotated e... |
ORPHA:2052 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3429 |
Momo Syndrome |
|
Eyelid coloboma, Underfolded helix, Epicanthus, Downslanted palpebral fissures |
OMIM:157980 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2145 |
Mccune-Albright Syndrome |
|
Macroorchidism, Goiter, Hepatitis, Bone marrow hypocellularity, Hepatocellular adenoma, Pancreati... |
ORPHA:562 |
Brittle Cornea Syndrome 2 |
|
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus |
OMIM:614170 |
Caudal Regression Sequence |
|
Pulmonary hypoplasia |
ORPHA:3027 |
Diencephalic Syndrome |
|
Optic atrophy, Long penis, Abnormality of the hypothalamus-pituitary axis, Macrotia, Hydrocephalus |
ORPHA:1672 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Fraser Syndrome 2 |
|
Cryptophthalmos |
OMIM:617666 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cryptorchidism, Cataract |
OMIM:613730 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Achondroplasia |
|
Conductive hearing impairment, Recurrent otitis media, Hydrocephalus |
OMIM:100800 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract |
ORPHA:2489 |
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Upper eyelid coloboma, Mixed hearing impairment |
OMIM:603463 |
Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Upper eyelid coloboma, Umbilical hernia, Abnormal eyelid morphology |
ORPHA:2095 |
Scimitar Syndrome |
|
Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Anomalous pulmonary venous return, Pulm... |
ORPHA:185 |
Biemond Syndrome Type 2 |
|
Hypospadias, Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus, Delayed puberty |
ORPHA:141333 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Cerebellar atrophy, Spastic dysarthria, Stereotypy, Spasticity, Progressive spasti... |
ORPHA:280763 |
Pendred Syndrome |
|
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... |
ORPHA:705 |
Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Stereotypy |
OMIM:172700 |
Acrocephalopolydactylous Dysplasia |
|
Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Kagami-Ogata Syndrome |
|
Pulmonary hypoplasia |
OMIM:608149 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Highly arched eyebrow, Eczema, Abnormal earlobe morphology, Congenital sensorineural... |
ORPHA:500159 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Eye poking |
OMIM:204000 |
Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Enlarged cochlear aqueduct, Epicanthus, Stapes ankylosis, Progress... |
ORPHA:90646 |
Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia |
OMIM:313850 |
Central Precocious Puberty |
|
Abnormality of secondary sexual hair, Acne, Increased circulating gonadotropin level, Isosexual p... |
ORPHA:759 |
Herpes Simplex Virus Stromal Keratitis |
|
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... |
ORPHA:137599 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis |
OMIM:245348 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Pulmonary hypoplasia |
OMIM:231680 |
Manitoba Oculotrichoanal Syndrome |
|
Eyelid coloboma, Nasolacrimal duct obstruction |
OMIM:248450 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Pulmonary hypoplasia |
OMIM:616866 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... |
ORPHA:1215 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Christianson Syndrome |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Macrotia, Stereotypy, Truncal ataxia... |
ORPHA:85278 |
Czeizel-Losonci Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2437 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency |
ORPHA:100025 |
Jacobsen Syndrome |
|
Optic atrophy, Ptosis, Holoprosencephaly, Telecanthus, Epicanthus, Nasolacrimal duct obstruction,... |
OMIM:147791 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Diffuse cerebellar atrophy, Abnormal head movements, Progressive gait ataxia, Progressive cerebel... |
ORPHA:247815 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Low anterior hairline, Prominent ear helix, Long eyelashes, Hypsarrhythmia, Myoclo... |
ORPHA:411986 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Diaphanospondylodysostosis |
|
Pulmonary hypoplasia |
OMIM:608022 |
Joubert Syndrome 21 |
|
Pulmonary hypoplasia |
OMIM:615636 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia |
OMIM:248700 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:3309 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Mental Retardation, Autosomal Dominant 7 |
|
Macrotia, Abnormality of the pinna, Stereotypy, Ataxia, Incoordination, Stereotypical hand wringi... |
OMIM:614104 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
< |