Microphthalmia, Syndromic 3 |
|
Hypothalamic hamartoma, Hemivertebrae, Cataract, Microphthalmia, Hypogonadotropic hypogonadism, A... |
OMIM:206900 |
Cach Syndrome |
|
Optic neuritis, Flexion contracture, Hepatosplenomegaly, Primary amenorrhea, Microcephaly, Gonada... |
ORPHA:135 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Motor axonal neuropathy, Short stature, Hypogonadotropic hypogonadism, Micrognathia, Ca... |
ORPHA:48431 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Kyphoscoliosis, Narrow mouth, External genital hypoplasia, Joint hypermobility... |
OMIM:600118 |
48,Xxyy Syndrome |
|
Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Carious teeth, Radioulna... |
ORPHA:10 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... |
OMIM:120200 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Malar flattening, Small scrotum, Short stature, Micrognathia, Anophthalmia, ... |
ORPHA:264200 |
Gorlin Syndrome |
|
Hydrocephalus, Hypogonadotropic hypogonadism, Hemivertebrae, Vertebral fusion, Scoliosis, Carious... |
ORPHA:377 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Narrow mouth, Microphthalmia, Short stature, Retrognathia, Upslanted palpebral fissu... |
ORPHA:2528 |
Cofs Syndrome |
|
Joint stiffness, Abnormality of retinal pigmentation, Microphthalmia, Everted lower lip vermilion... |
ORPHA:1466 |
Pierpont Syndrome |
|
Long upper lip, Malar flattening, Small for gestational age, Everted lower lip vermilion, Thin ve... |
ORPHA:487825 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Macrocephaly, Cleft palate, Microcornea, Retinal dystrophy, Optic atrophy, Catarac... |
ORPHA:899 |
Trisomy 13 |
|
Cleft palate, Abnormality of the dentition, Optic atrophy, Cataract, Microphthalmia, Intrauterine... |
ORPHA:3378 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Failure to thrive, Dental malocclusion, Narrow palate, Ovarian neoplas... |
OMIM:617883 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Cleft palate, Sparse eyebrow, Short philtrum, Microcornea, Downslanted palpebral ... |
ORPHA:464738 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Microcephaly, Ventriculomegaly, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:1980 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Large carpal bones, Eunuchoid habitus, External genital hypoplasi... |
ORPHA:99330 |
Bresek Syndrome |
|
Hydrocephalus, Cleft palate, Hemivertebrae, Optic nerve hypoplasia, Microcephaly, Scoliosis, Neon... |
ORPHA:85284 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hemivertebrae, Hypospadias, Anophthalmia, ... |
ORPHA:77298 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Cataract, Microphthalmia, Flexion contracture, Microgna... |
OMIM:214150 |
Malan Overgrowth Syndrome |
|
High palate, Narrow mouth, Macrocephaly, Accelerated skeletal maturation, Scoliosis, Downslanted ... |
ORPHA:420179 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Intrauterine g... |
ORPHA:90322 |
Pierpont Syndrome |
|
Short neck, Microcornea, Microphthalmia, Decreased body weight, Prominent median palatal raphe, S... |
OMIM:602342 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Mosaic Trisomy 1 |
|
Wide mouth, Thoracic scoliosis, Microretrognathia, Macrocephaly, Cleft palate, Micropenis, Campto... |
ORPHA:1692 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Cockayne Syndrome Type 1 |
|
Widely spaced primary teeth, Abnormality of the dentition, Optic atrophy, Uveitis, Cataract, Abno... |
ORPHA:90321 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Macrocephaly, Craniosynostosis, Downslanted palpebral fissures, Intrauterine growth retardation, ... |
OMIM:301056 |
Proteus-Like Syndrome |
|
Hydrocephalus, Macrocephaly, Abnormal pupil morphology, Genu recurvatum, Splenomegaly, Open bite,... |
ORPHA:2969 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft palate, Orbital cyst, Congenital hip dislocation, Anophthalmia, Eyel... |
OMIM:164180 |
Fanconi Anemia, Complementation Group B |
|
Growth delay, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Short neck, Aplastic ane... |
OMIM:300514 |
Kbg Syndrome |
|
Delayed skeletal maturation, Thick eyebrow, Long palpebral fissure, Cleft palate, Short stature, ... |
ORPHA:2332 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased CSF lactate, Decreased nerve conduction velocity, Congenital foot contractures, Ankle c... |
ORPHA:565624 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Holoprosencephaly |
|
Hydrocephalus, Macrocephaly, Short neck, Optic atrophy, Median cleft lip and palate, Solitary med... |
ORPHA:2162 |
Alg2-Cdg |
|
Microcephaly, Downslanted palpebral fissures, Lateral ventricle dilatation, Iris coloboma, Epican... |
ORPHA:79326 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Decreased body weight, Microphthalmia, Decreased response to gro... |
OMIM:609053 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
High palate, Kyphoscoliosis, Thoracic scoliosis, Normal pressure hydrocephalus, Macrocephaly, Abn... |
ORPHA:300570 |
Short Syndrome |
|
Corneal opacity, Abnormal pupil morphology, Severe short stature, Malar flattening, Abnormal ante... |
ORPHA:3163 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Abnormality of the dentition, Platyspondyly, Delayed eruption of teeth, Carious teeth,... |
ORPHA:534 |
Prader-Willi Syndrome Due To Translocation |
|
High palate, Wide mouth, External genital hypoplasia, Cleft palate, Short neck, Carious teeth, In... |
ORPHA:177907 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Fused thoracic vertebrae, Holoprosencephaly, Short stature, Microcephaly... |
ORPHA:1445 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Fanconi Anemia |
|
High palate, Hydrocephalus, Absent testis, Decreased fertility in males, Cleft palate, Aplasia/Hy... |
ORPHA:84 |
Baraitser-Winter Syndrome 1 |
|
Wide mouth, Short neck, Microphthalmia, Cleft upper lip, Retrognathia, Long palpebral fissure, Lo... |
OMIM:243310 |
8P11.2 Deletion Syndrome |
|
High palate, Microcornea, Retinal dystrophy, Hypogonadism, Sacral dimple, Hypoplasia of penis, Sp... |
ORPHA:251066 |
Distal Monosomy 10Q |
|
High palate, Facial diplegia, Cleft palate, Craniosynostosis, Downslanted palpebral fissures, Mic... |
ORPHA:96148 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Kyphosis, High palate, Wide mouth, Biparietal narrowing, Upsla... |
ORPHA:261250 |
Aarskog-Scott Syndrome |
|
Cleft palate, Abnormality of the dentition, Megalocornea, Short neck, Delayed eruption of teeth, ... |
ORPHA:915 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Oral cleft, Iris coloboma, Bilateral microphthalmos, Microphthal... |
OMIM:611638 |
Temple Syndrome |
|
High palate, Intrauterine growth retardation, Hydrocephalus, Relative macrocephaly, Cleft palate,... |
OMIM:616222 |
Maternal Uniparental Disomy Of Chromosome X |
|
Flexion contracture, Short stature, Thin vermilion border, Microcephaly, Short neck, Scoliosis, C... |
ORPHA:261519 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, High, narrow palate, Short stature, Hypergonadotropic hypogonadism, Short neck, Cu... |
ORPHA:2183 |
Mental Retardation, Buenos Aires Type |
|
High palate, Failure to thrive, Hydrocephalus, Wide mouth, Dental malocclusion, Blue irides, Hypo... |
OMIM:249630 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Cryptorchidism, Chromosome breakage, External genital hypoplasia |
OMIM:613390 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Microcephaly, Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia, Abno... |
OMIM:614082 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Severe postnatal growth retardation, Micrognathia, Microcephaly, Conge... |
ORPHA:3078 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Slc35A2-Cdg |
|
Precocious puberty, Short stature, Craniosynostosis, Osteopenia, Microcephaly, Camptodactyly of f... |
ORPHA:356961 |
49,Xxxxy Syndrome |
|
Cleft palate, Short neck, Delayed eruption of teeth, Carious teeth, Radioulnar synostosis, Hypogo... |
ORPHA:96264 |
Koolen-De Vries Syndrome |
|
Cleft palate, Abnormality of the dentition, Microdontia, Cataract, Vertebral segmentation defect,... |
ORPHA:96169 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Microcephaly, Anophthalmia, Microcornea, Retinal dystrophy, Iris coloboma, Cataract,... |
ORPHA:139471 |
Congenital Hydrocephalus |
|
Hydrocephalus, Macrocephaly, Optic atrophy, Downslanted palpebral fissures, Iris coloboma, Ventri... |
ORPHA:2185 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Hydrocephalus, Macrocephaly, Hypospadias, Cataract, Arthrogryposis multiplex c... |
ORPHA:250994 |
Cerebrooculonasal Syndrome |
|
High palate, Hydrocephalus, Macrocephaly, Cleft palate, Craniosynostosis, Sparse eyebrow, Solitar... |
OMIM:605627 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Insulin resistance, Obesity |
OMIM:615703 |
Proboscis Lateralis |
|
High palate, Macrocephaly, External genital hypoplasia, Abnormal morphology of bony orbit of skul... |
ORPHA:141099 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Warburg Micro Syndrome 3 |
|
Microcornea, Optic atrophy, Cataract, Microphthalmia, Small scrotum, Flexion contracture, Microgn... |
OMIM:614222 |
3Q29 Microdeletion Syndrome |
|
High palate, Failure to thrive, Macrocephaly, Everted lower lip vermilion, Hypospadias, Abnormali... |
ORPHA:65286 |
Alexander Disease |
|
Hydrocephalus, Death in childhood, Death in adolescence, Death in infancy, Increased CSF protein,... |
OMIM:203450 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Micrognathia, Short neck, Lateral ventricle dilatation, Primary microcephaly, K... |
ORPHA:284417 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Galactosialidosis |
|
Abnormal vertebral morphology, Corneal opacity, Abnormality of the vertebral column, Cherry red s... |
ORPHA:351 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
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 |
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 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Cleft palate, Micrognathia, Anophthalmia, Microphthalmia, Supernum... |
OMIM:221950 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High palate, Downslanted palpebral fissures, Hypogonadism, High, narrow palate, Short palpebral f... |
OMIM:612513 |
2Q24 Microdeletion Syndrome |
|
Failure to thrive, Microphthalmia, Cleft palate, Small for gestational age, Short philtrum, Short... |
ORPHA:1617 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Median cleft palate, Microcornea, Large for gestational age, Microphthalmia |
ORPHA:2432 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Short stature, Micrognathia, Retinopathy, Microcephaly, Microcornea, Optic atroph... |
OMIM:616171 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Supernumerary ribs, Thick eyebrow, Blue irides, Supern... |
OMIM:193500 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Microcornea, Delayed eruption of teeth, Downs... |
OMIM:257850 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, Short stature, Microcephaly, ... |
ORPHA:290 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Macrocephaly, Contracture of the proximal interphalangeal joint of the 4th toe, Supe... |
ORPHA:457279 |
Alpha-Mannosidosis |
|
Avascular necrosis, Kyphosis, Corneal opacity, Dental malocclusion, Gingival overgrowth, Narrow p... |
ORPHA:61 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Microcephaly, Male hypogonadism |
OMIM:241000 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Decreased nerve conduction velocity, Scoliosis, Peripheral axonal neur... |
ORPHA:101082 |
Charge Syndrome |
|
Labial hypoplasia, Cleft palate, Hemivertebrae, Delayed eruption of teeth, Optic atrophy, Microph... |
ORPHA:138 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Trisomy 1Q |
|
Hydrocephalus, Narrow mouth, Microretrognathia, Macrocephaly, Cleft palate, Camptodactyly of fing... |
ORPHA:261344 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Hydrocephalus, Lumbar hyperlordosis, Microphthalmia, Macroglossia, Opt... |
ORPHA:370959 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Microphthalmia, Aqueductal stenosis, Retrognathia, Hemivertebrae, Micrognathia, An... |
ORPHA:3412 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
48,Xxxy Syndrome |
|
Cleft palate, Short neck, Delayed eruption of teeth, Carious teeth, Radioulnar synostosis, Hypogo... |
ORPHA:96263 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Subretinal deposits, Retinal dystrophy, Rhizomelic arm shortening, Abnormal optic disc morphology... |
ORPHA:397715 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Macrocephaly, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Retro... |
ORPHA:544488 |
Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Papilledema, Increased circulating... |
ORPHA:2905 |
Koolen-De Vries Syndrome |
|
High palate, Cleft palate, Cataract, Open mouth, Intrauterine growth retardation, Sacral dimple, ... |
OMIM:610443 |
Ataxia-Telangiectasia |
|
Failure to thrive, Type II diabetes mellitus, Lymphopenia, Short stature, Delayed puberty, Diabet... |
ORPHA:100 |
48,Xyyy Syndrome |
|
High palate, Dislocated radial head, Irregularly spaced teeth, Short neck, Long philtrum, Radioul... |
ORPHA:99329 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity, Hydrocephalus, Short stature, Thin vermilion border, Telecanthus |
ORPHA:1532 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Cataract, Cubitus valgus, Decreased testicular size, Hypogonadism, Abnormality of the o... |
ORPHA:1875 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilat... |
ORPHA:137902 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Micrognathia, Orbital craniosynostosis, Optic atrophy, Dandy-Walker malformation |
ORPHA:1538 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Microretrognathia, Hypergonadotropic hypogonadism, Thin vermilion bor... |
OMIM:619737 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Growth delay, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Winchester Syndrome |
|
Kyphosis, Gingival overgrowth, Corneal opacity, Osteolysis involving tarsal bones, Carpal osteoly... |
OMIM:277950 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Osteopenia, Short neck, Downslanted palpebral fissures, Rhizomelia, In... |
OMIM:611209 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Retinal dystrophy, Ambiguous genitalia, Clitoral hypertrophy, Chorioretinal dyspla... |
ORPHA:2556 |
2P15P16.1 Microdeletion Syndrome |
|
High palate, Sparse eyebrow, Optic atrophy, Downslanted palpebral fissures, Long eyelashes, Hypog... |
ORPHA:261349 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Congenital hip dislocation... |
ORPHA:96170 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
High palate, Hydrocephalus, Optic atrophy, Long eyelashes, Cataract, Tented upper lip vermilion, ... |
OMIM:619833 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Macrocephaly, Microcephaly, Ventriculomegaly, Abnormal vertebral morphology |
OMIM:618709 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Retrognathia, Micrognathia, Anophthalmia, Microphthalmia, Cryptorchidism |
OMIM:615524 |
Kniest Dysplasia |
|
Enlarged joints, Macrocephaly, Flexion contracture of finger, Cleft palate, Platyspondyly, Short ... |
ORPHA:485 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
High palate, Hydrocephalus, Macrocephaly, Short philtrum, Congenital hip dislocation, Retinal dys... |
OMIM:619512 |
Hydrolethalus |
|
Hydrocephalus, Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anencephaly, Arrhinencep... |
ORPHA:2189 |
Cog5-Cdg |
|
High palate, Joint contracture of the hand, Micropenis, Retrognathia, Short stature, Hepatospleno... |
ORPHA:263487 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Macrocephaly, Microretrognathia, Flexion contracture, Microcephaly, Scoliosis, Opt... |
OMIM:300884 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Hemivertebrae, Short neck, Microphthalmia, Intrauterine growth retarda... |
ORPHA:99776 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Wide mouth, Growth delay, Microcephaly, Lateral ventricle dilatation, Thick ver... |
ORPHA:85290 |
Alagille Syndrome |
|
Vertebral segmentation defect, Failure to thrive, Abnormal pupil morphology, Micrognathia, Short ... |
ORPHA:52 |
H Syndrome |
|
Hydrocephalus, Osteolysis, Hypogonadism, Delayed skeletal maturation, Cleft upper lip, Microcytic... |
ORPHA:168569 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Macroglossia, Microcephaly, Scoliosis, Hyperlordosis, Ventriculomegaly, Facial palsy, V... |
OMIM:606612 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Flexion contracture... |
ORPHA:79243 |
Temple Syndrome |
|
Hydrocephalus, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormon... |
ORPHA:254516 |
Ring Chromosome Y Syndrome |
|
Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,... |
ORPHA:261529 |
Basal Cell Nevus Syndrome |
|
Cleft upper lip, Hydrocephalus, Kyphoscoliosis, Macrocephaly, Mandibular prognathia, Cleft palate... |
OMIM:109400 |
N Syndrome |
|
Hypospadias, Cryptorchidism, Abnormality of chromosome stability |
OMIM:310465 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
ORPHA:280679 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Microcephaly, Bilateral microphthalmos |
ORPHA:77299 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Micrognathia, Broad eyebrow, Scoliosis, Astigmatism, Optic atrophy, Peters anomaly, ... |
ORPHA:494344 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Microphthalmia, Upslanted palpebral fissure, Myopic astigmatism, Microcephaly, R... |
OMIM:152950 |
Jacobsen Syndrome |
|
Hydrocephalus, Labial hypoplasia, Macrocephaly, Short neck, Microcornea, Clitoral hypoplasia, Opt... |
OMIM:147791 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Microcornea, De... |
OMIM:300166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Hydrocephalus, Spinal rigidity, Cleft palate, Macroglossia, Buphthalmos, Microce... |
OMIM:613150 |
Lig4 Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Leukocytosis, Biparietal narrowing, Thin vermilio... |
ORPHA:99812 |
Aicardi Syndrome |
|
Cleft palate, Hemivertebrae, Optic disc coloboma, Optic atrophy, Cataract, Microphthalmia, Block ... |
OMIM:304050 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Opti... |
ORPHA:193 |
Wolf-Hirschhorn Syndrome |
|
Hydrocephalus, Cleft palate, Craniofacial asymmetry, Short philtrum, Radioulnar synostosis, Delay... |
OMIM:194190 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Hydrocephalus, Death in childhood, Retinal detachment, Cataract, Ventriculomegal... |
OMIM:613153 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum, Rhizomelia |
OMIM:166990 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Upslanted palpebral fissure, Micrognathia, Optic nerve hypoplasia, Scoliosis, Pe... |
ORPHA:496790 |
Distal Monosomy 6P |
|
Vertebral segmentation defect, Corneal opacity, Malar flattening, Abnormal anterior chamber morph... |
ORPHA:96125 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Spinal canal stenosis, Corneal opacity, Aplasia/Hypoplasia affecting the eye,... |
ORPHA:2323 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Zika Virus Disease |
|
Intrauterine growth retardation, Miscarriage, Lens subluxation, Absent foveal reflex, Abnormality... |
ORPHA:448237 |
Polyrrhinia |
|
Lateral ventricle dilatation, Oral cleft, Abnormal third ventricle morphology |
ORPHA:141091 |
Sifrim-Hitz-Weiss Syndrome |
|
Macrocephaly, Short palpebral fissure, Micropenis, Short stature, Hypogonadotropic hypogonadism, ... |
OMIM:617159 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Bilateral cleft lip and palate, Optic... |
ORPHA:1473 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Narrow mouth, Short stature, Thin vermilion border, Reduced bone mineral density... |
ORPHA:2370 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Masa Syndrome |
|
Kyphosis, Hydrocephalus, Macrocephaly, Short stature, Microcephaly, Hyperlordosis, Ventriculomega... |
OMIM:303350 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Abnormality of retinal pigmentation, Microcephaly, Ventriculomegaly, Microphthalmi... |
ORPHA:858 |
Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Cleft palate, Anophthalmia, Bilateral cleft lip and palate, Iris c... |
ORPHA:1104 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Scoliosis |
ORPHA:306669 |
Mucolipidosis Type Iii |
|
Joint stiffness, Corneal opacity, Cleft palate, Short stature, Reduced bone mineral density, Abno... |
ORPHA:577 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypogonadism, Obes... |
OMIM:601794 |
Acrofacial Dysostosis 1, Nager Type |
|
Wide mouth, Hydrocephalus, Cleft palate, Radioulnar synostosis, Downslanted palpebral fissures, S... |
OMIM:154400 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
OMIM:300845 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
High palate, Rod-cone dystrophy, Dilated fourth ventricle, Lateral ventricle dilatation, Thin upp... |
ORPHA:572798 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus, Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Pituitary gonadot... |
ORPHA:91348 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Meckel Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Microcornea, Optic at... |
ORPHA:564 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus, Blue irides, Mild postnatal growth retardation, Accelerated skeletal maturation, D... |
OMIM:101800 |
Gapo Syndrome |
|
Sparse eyebrow, Delayed eruption of teeth, Optic atrophy, Keratoconus, Hypogonadism, Mandibular p... |
ORPHA:2067 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Microphthalmia, Macrocephaly at birth, Oral cleft, Developmental cataract, Ocular ... |
ORPHA:324416 |
Duane Retraction Syndrome |
|
Cleft palate, Short neck, Microcornea, Hypoplastic iris stroma, Abnormal pupil morphology, Short ... |
ORPHA:233 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:615938 |
Norrie Disease |
|
Optic atrophy, Erectile dysfunction, Cataract, Microphthalmia, Ectopia lentis, Abnormal pupil mor... |
ORPHA:649 |
Xp22.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Short stature, Hypogonadotropic hypogonadism, Opacification... |
ORPHA:1643 |
Alexander Disease |
|
High palate, Failure to thrive, Hydrocephalus, Kyphosis, Precocious puberty, Aqueductal stenosis,... |
ORPHA:58 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity, Exudative vitreoretinopathy, Short stature, Osteopenia, Retinal detachment, Isos... |
ORPHA:2788 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Macrocephaly, Absent extraocular muscles, Malar flattening, Short stature, Abnorma... |
OMIM:109120 |
Trisomy 9P |
|
Kyphosis, Abnormal pupil morphology, Impacted tooth, Microcephaly, Short neck, Scoliosis, Downtur... |
ORPHA:236 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed... |
ORPHA:141333 |
Baraitser-Winter Syndrome 2 |
|
Wide mouth, Short stature, Retrognathia, Long palpebral fissure, Short neck, Long philtrum, Highl... |
OMIM:614583 |
Fanconi Anemia, Complementation Group C |
|
Chromosomal breakage induced by crosslinking agents, Neutropenia, Microphthalmia, Cryptorchidism,... |
OMIM:227645 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Short philtrum, Short neck, Platyspondyly, Decreased skull ossification, Downturned... |
ORPHA:93267 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hydrocephalus, Cleft palate, Megalocornea, Optic atrophy, Cataract, Hypoplastic male external gen... |
OMIM:236670 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Short stature, Microcephaly, Cataract, Diabetes mellitus, Weight loss, Abnormal ... |
ORPHA:317 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Macrocephaly, Limitation of joint mobility |
ORPHA:99966 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Kyphoscoliosis, Small for gestational age, Micropenis, Micrognathia, Death in childhood, Microcep... |
OMIM:610756 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Macrocephaly |
OMIM:155350 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Lateral ventricle dilatation, Microcephaly, Scoliosis, Short stature |
ORPHA:178469 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Thick eyebrow, Everted lower lip vermilion, Short philtrum, Anophthalmi... |
ORPHA:411986 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, Cleft palate, Craniosynostosis, Osteopenia, Megalocornea, Downslanted palpebral fi... |
ORPHA:2409 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Macrocephaly, Cryptophthalmos, Ectopia pupillae, Hypospadias, Long philtrum, ... |
OMIM:615877 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:615937 |
Microphthalmia, Syndromic 5 |
|
Cleft palate, Micropenis, Short stature, Optic nerve hypoplasia, Anophthalmia, Microcornea, Retin... |
OMIM:610125 |
Ogden Syndrome |
|
Hydrocele testis, High palate, Sparse eyebrow, Abnormality of the dentition, Short philtrum, Shor... |
OMIM:300855 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Hypoplastic vertebral bodies, Hypodontia, Cleft palate, Short stature, Hemivertebrae, S... |
ORPHA:2916 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Hydrocephalus, Neutropenia, Microphthalmia, Cryptorchidism, Small for gestation... |
OMIM:227646 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Aplasia/Hypoplasia affecting the eye, Corneal opacity, Choroideremia, Ocular albinism, Cryptorchi... |
ORPHA:2719 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Chronic neutropenia, Death in infancy, An... |
OMIM:619302 |
Martsolf Syndrome 1 |
|
High palate, Finger joint hypermobility, Short philtrum, Downslanted palpebral fissures, Cataract... |
OMIM:212720 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Macrocephaly, Abnormal oral cavity morphology, Short stature, Craniosynostosis, Mi... |
ORPHA:1516 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short stature, Short neck, Scoliosis, Abnormal form of the vertebral bodies,... |
ORPHA:3319 |
Fumarase Deficiency |
|
High palate, Failure to thrive, Relative macrocephaly, Choroid plexus cyst, Polycythemia, Microce... |
OMIM:606812 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein, Abnormal eyelid morphology |
ORPHA:251912 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
High palate, Wide mouth, Upslanted palpebral fissure, Hypospadias, Short philtrum, Micrognathia, ... |
ORPHA:363686 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Bicornuate uterus, Short stature, Short neck, Aplasia/hypoplasia o... |
ORPHA:2578 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Macrocephaly, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Large for g... |
OMIM:213980 |
Stromme Syndrome |
|
Wide mouth, Hydrocephalus, Cleft palate, Micrognathia, Optic nerve hypoplasia, Accessory spleen, ... |
OMIM:243605 |
Immunodeficiency 54 |
|
Failure to thrive, Intrauterine growth retardation, Adrenocorticotropic hormone excess, Chromosom... |
OMIM:609981 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Microcephaly, Vertebral fusion, Spinal instability, Short stature |
OMIM:251250 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Optic atrophy, Optic disc pallor, Hip subluxation, Pancytopenia, Increased bone mi... |
OMIM:259720 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Ptosis, Optic nerve hypoplasia, Microcephaly, Scoliosis, Spina bifida occulta, Downslanted palpeb... |
OMIM:618736 |
Tatton-Brown-Rahman Syndrome |
|
Macrocephaly, Thick eyebrow, Thin vermilion border, Optic nerve hypoplasia, Scoliosis, Talipes va... |
OMIM:615879 |
47,Xyy Syndrome |
|
Hydrocephalus, Congenital stationary night blindness, Macrocephaly, Cryptorchidism, Malar flatten... |
ORPHA:8 |
Cerebrooculonasal Syndrome |
|
High palate, U-Shaped upper lip vermilion, Hypoplasia of penis, Sparse eyebrow, Upslanted palpebr... |
ORPHA:66625 |
Cornelia De Lange Syndrome 5 |
|
High palate, Cleft palate, Short neck, Long eyelashes, Hypogonadism, Retrognathia, Micrognathia, ... |
OMIM:300882 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Splenomegaly, Hypogonadotropic hypogonadism, Arthritis, Azoospermia |
OMIM:602390 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Abnormal preputium morphology, Choroid plexus cyst, Retrognathia, Short philtrum, Glandular hypos... |
ORPHA:293725 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Cleft palate, Microcephaly, Short neck, Anophthalmia, Microphthalmia, Encephalocele |
OMIM:613885 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Cleft palate, Micrognathia, Microcephaly, Arthrogryposis multiplex congenita, Microphthalmia, Int... |
OMIM:616570 |
Oculofaciocardiodental Syndrome |
|
Cleft palate, Abnormality of the dentition, Microcornea, Delayed eruption of teeth, Radioulnar sy... |
ORPHA:2712 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microcephaly, Retinal dysplasia, Microphthalmia |
OMIM:615771 |
Postaxial Acrofacial Dysostosis |
|
Cleft upper lip, Growth delay, Ectropion, Supernumerary nipple, Cleft palate, Micropenis, Supernu... |
OMIM:263750 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hydrocele testis, Cleft palate, Short philtrum, Microcornea, Delayed eruption of teeth, Optic atr... |
ORPHA:261552 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal reticulocyte morphology, Short stature, Hypospadias, Micrognathia, Short neck,... |
ORPHA:2522 |
Developmental And Epileptic Encephalopathy 49 |
|
Thick upper lip vermilion, Hydrocephalus, Short philtrum, Microcephaly, Optic atrophy, Long eyela... |
OMIM:617281 |
Zellweger Syndrome |
|
High palate, Failure to thrive, Corneal opacity, Abnormality of the tongue, Macrocephaly, Short s... |
ORPHA:912 |
Lateral Meningocele Syndrome |
|
High palate, Kyphosis, Sclerosis of skull base, Joint hypermobility, Malar flattening, Short stat... |
OMIM:130720 |
Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Limited el... |
OMIM:244600 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Eunuchoid habitus, Cleft palate, Abnormality of the dentition, Osteopenia, Primary ame... |
ORPHA:432 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Cleft palate, Microcornea, Ambiguous genitalia, Short palpebral fissure, Micrognat... |
ORPHA:2839 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Joint laxity, Ventriculomegaly, Microp... |
OMIM:602501 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Ankyloblepharon, Microphthalmia |
ORPHA:85275 |
Aicardi Syndrome |
|
Cleft upper lip, Butterfly vertebrae, Precocious puberty, Abnormality of retinal pigmentation, Cl... |
ORPHA:50 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Kyphoscoliosis, Malar flattening, Short stature, Secondary microcephaly, Osteo... |
OMIM:614727 |
Bloom Syndrome |
|
Growth delay, Type II diabetes mellitus, Postnatal growth retardation, Chromosome breakage, Malar... |
OMIM:210900 |
Marden-Walker Syndrome |
|
High palate, Cleft palate, Short neck, Radioulnar synostosis, Microphthalmia, Intrauterine growth... |
OMIM:248700 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Severe short stature, Short stature, He... |
OMIM:277300 |
Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis, Short stature, Microcephaly, Diastema, Microcornea, Microphthalmia, Ptosis |
OMIM:300915 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short neck, Hypermobility of interphalangeal joints, Cervical hemivertebrae, Abnormal optic disc ... |
ORPHA:508498 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Macrocephaly, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Gen... |
OMIM:253220 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Growth delay, Short palpebral fissure, Cleft palate, Retrognathia, ... |
OMIM:206920 |
Fg Syndrome Type 1 |
|
High palate, Wide mouth, Hydrocephalus, Macrocephaly, Craniosynostosis, Limited elbow extension a... |
ORPHA:93932 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Microcephaly, Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation, Abnorm... |
OMIM:600546 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
X-Linked Intellectual Disability, Najm Type |
|
Failure to thrive, Micrognathia, Optic nerve hypoplasia, Microcephaly, Scoliosis, Long philtrum, ... |
ORPHA:163937 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Micrognathia, Unilambdoid synostosis, Scoliosis, Long philtrum, Ulnar deviation of... |
OMIM:618577 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Short palpebral fissure, Cleft palate, Microcephaly, Microcornea, Oral cleft, Wi... |
OMIM:601349 |
Triploidy |
|
Aplasia/Hypoplasia affecting the eye, Wide mouth, Hydrocephalus, Narrow mouth, Macrocephaly, Hypo... |
ORPHA:3376 |
Bloom Syndrome |
|
Cheilitis, Abnormal proportion of CD8-positive T cells, Abscess, Uveitis, Intrauterine growth ret... |
ORPHA:125 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Macrocephaly, Accelerated skeletal maturation, Joint contracture of the hand, Cran... |
OMIM:175700 |
3C Syndrome |
|
Hydrocephalus, Macrocephaly, Cleft palate, Hemivertebrae, Short neck, Optic atrophy, Downslanted ... |
ORPHA:7 |
Trisomy 17P |
|
High palate, Wide mouth, Hydrocephalus, Cleft palate, Short neck, Downslanted palpebral fissures,... |
ORPHA:261290 |
Hec Syndrome |
|
Abnormal pupil morphology, Abnormal retinal vascular morphology, Communicating hydrocephalus, Dev... |
ORPHA:2119 |
Achondroplasia |
|
Limited hip extension, Hydrocephalus, Lumbar hyperlordosis, Neonatal short-limb short stature, Ma... |
OMIM:100800 |
Otopalatodigital Syndrome Type 2 |
|
Hydrocephalus, Cleft palate, Downslanted palpebral fissures, Cataract, Encephalocele, Elbow dislo... |
ORPHA:90652 |
Abcd Syndrome |
|
Polycythemia, Neonatal death, Large for gestational age, White eyebrow, White eyelashes, Abnormal... |
OMIM:600501 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Chorioretinal coloboma |
OMIM:300864 |
Lissencephaly 4 |
|
Short stature, Primary microcephaly, Growth delay, Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Gombo Syndrome |
|
Microcephaly, Delayed puberty, Microphthalmia |
OMIM:233270 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Microcephaly, Agenesis of corpus callosum |
ORPHA:300573 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Chromosome breakage, Cleft palate, Micropenis, Hypoplastic sacrum, Micrognathia, U... |
OMIM:614083 |
Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Cryptorchidism, Decreased response to growth hormone stimulation test, Short s... |
OMIM:603467 |
Holoprosencephaly 9 |
|
Hydrocephalus, Cleft palate, Short philtrum, Hypoplasia of the maxilla, Solitary median maxillary... |
OMIM:610829 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis, Abnormality of the dentition, Gingivitis, Abnormal eyelash morphology |
ORPHA:1008 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Bone pain, Hydrocephalus, Mandibular osteomyelitis, Macrocephaly, ... |
ORPHA:53 |
Sandestig-Stefanova Syndrome |
|
High palate, Small for gestational age, Retrognathia, Prominent metopic ridge, Short neck, Sparse... |
OMIM:618804 |
Mucolipidosis Iv |
|
Corneal opacity, Dysplastic corpus callosum, Retinal degeneration, Microcephaly, Opacification of... |
OMIM:252650 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Narrow mouth, Short palpebral fissure, Cleft palate, Short stature, Upslanted palpebral fissure, ... |
OMIM:616734 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age, Median cleft palate, Microphthalmia |
OMIM:248110 |
White-Sutton Syndrome |
|
High palate, Cleft palate, Short philtrum, Short neck, Downslanted palpebral fissures, Mandibular... |
OMIM:616364 |
1Q44 Microdeletion Syndrome |
|
High palate, Hydrocephalus, Short stature, Thin vermilion border, Micrognathia, Microcephaly, Pro... |
ORPHA:238769 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Microcephaly, Growth delay, Short stature |
ORPHA:208447 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Macrocephaly, Accelerated skeletal maturation, Optic nerve hypoplasia, Unilateral cryptorchidism,... |
ORPHA:137634 |
Knobloch Syndrome 1 |
|
Lens subluxation, Band keratopathy, Attenuation of retinal blood vessels, Optic disc pallor, Hori... |
OMIM:267750 |
Gm1 Gangliosidosis |
|
Platyspondyly, Optic atrophy, Mandibular prognathia, Weight loss, Abnormality of the scrotum, Joi... |
ORPHA:354 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... |
OMIM:165550 |
16P13.2 Microdeletion Syndrome |
|
Failure to thrive, Hydrocephalus, Kyphosis, Relative macrocephaly, Flexion contracture, Micropeni... |
ORPHA:500055 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Orbital cyst, Microcornea, Microphthalmia |
OMIM:251505 |
Myhre Syndrome |
|
Macrocephaly, Cleft palate, Short philtrum, Platyspondyly, Short neck, Birth length less than 3rd... |
OMIM:139210 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly |
OMIM:604213 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Microphthalmia, Cryptorchidism, Small for gestational age, Hypergonadotropic hypogon... |
OMIM:227650 |
Forsythe-Wakeling Syndrome |
|
Delayed skeletal maturation, Decreased body weight, Short stature, Microcephaly, Osteoporosis, Gr... |
OMIM:613606 |
Mucous Membrane Pemphigoid |
|
Gingivitis, Corneal opacity, Oral mucosal blisters |
ORPHA:46486 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Upslanted palpebral fissure, Micrognathia, Microcephaly, Long palpebral fissure, Microdontia, Ast... |
OMIM:619694 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Camptodactyly of finger, Megalocornea, Scoliosis, Long philtrum, Anophthalmi... |
ORPHA:1101 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hydrocele testis, Cleft palate, Short philtrum, Delayed eruption of teeth, Genu valgum, Cleft har... |
ORPHA:261537 |
Band Heterotopia |
|
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:600348 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Cleft palate, Sparse eyebrow, Hemivertebrae, Short philtrum, Optic atrophy, Downslanted palpebral... |
ORPHA:500150 |
Noonan Syndrome 4 |
|
Delayed skeletal maturation, Wide mouth, Dental malocclusion, Macrocephaly, Blue irides, Sparse e... |
OMIM:610733 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Short sta... |
OMIM:178110 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Impotence, Pituitary adenoma, Elevated circulating growth... |
ORPHA:95613 |
8Q21.11 Microdeletion Syndrome |
|
High palate, Corneal opacity, Narrow mouth, Hypoplasia of penis, Abnormality of the dentition, Sh... |
ORPHA:284160 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Microcephaly, Hypoglycemia, Iris hypopigmentation, Cataract, Thrombocytopenia |
ORPHA:67048 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Cleft palate, Abnormality of the dentition, Osteopenia, Megalocornea... |
ORPHA:536471 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Microcephaly, Optic atrophy, Microphthalmia, Growth delay, Agenesis of corpus ... |
OMIM:274270 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Kyphosis, Narrow palate, Decreased response to growth hormone stimulation tes... |
OMIM:618223 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Splenomegaly, Hypogonadotropic hy... |
OMIM:235200 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Aqueductal stenosis, Malar flattening, Abnormal form of the vertebral bodies, ... |
ORPHA:1788 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Flexion contracture, Optic atrophy, Cataract, Ventriculomegaly, Retinal dysplasia,... |
OMIM:613154 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Hemivertebrae, Delayed cranial sut... |
OMIM:113000 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrh... |
OMIM:614837 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Flexion contracture |
OMIM:160565 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Narrow mouth, Abnormally ossified vertebrae, Micrognathia, Microcornea, Oral cleft... |
ORPHA:3301 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
High palate, Hydrocephalus, Macrocephaly, Short neck, Downslanted palpebral fissures, Tented uppe... |
OMIM:612582 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Primary microcephaly, Developmental cataract, Decreased testicular size, Gr... |
OMIM:601815 |
Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Absent eyebrow, Short stature, Sparse eyel... |
OMIM:615280 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Takenouchi-Kosaki Syndrome |
|
Wide mouth, Sparse eyebrow, Short philtrum, Optic atrophy, Downslanted palpebral fissures, Eversi... |
OMIM:616737 |
Lead Poisoning |
|
Delayed skeletal maturation, Infertility, Miscarriage, Decreased male libido, Reduced sperm motil... |
ORPHA:330015 |
Fried Syndrome |
|
High palate, Hydrocephalus, Short philtrum, Scoliosis, Abnormality of the optic nerve |
ORPHA:85335 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Cataract, Hypoplasia of the maxilla, Proportionate short stature, Epiphyseal s... |
ORPHA:79345 |
Sponastrime Dysplasia |
|
Platyspondyly, Biconcave vertebral bodies, Microdontia, Hypoplasia of the nasal bone, Rhizomelia,... |
ORPHA:93357 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
High palate, Decreased body weight, Short stature, Retinal coloboma, Micrognathia, Optic nerve hy... |
OMIM:300749 |
Warburg Micro Syndrome 4 |
|
Narrow mouth, Flexion contracture, Micropenis, Short stature, Severe postnatal growth retardation... |
OMIM:615663 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Multiple Sulfatase Deficiency |
|
Joint stiffness, Corneal opacity, Hydrocephalus, Abnormality of retinal pigmentation, Macrocephal... |
ORPHA:585 |
Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Optic atrophy, Hypoplas... |
ORPHA:1106 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Optic nerve hypoplasia, Retinal detachment, Cataract, Microphthalmia |
OMIM:615181 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
High palate, Kyphosis, Dilated third ventricle, Short philtrum, Long philtrum, Microcephaly, Broa... |
OMIM:619244 |
Icf Syndrome |
|
Macrocephaly, Lymphopenia, Macroglossia, Short stature, Micrognathia, Communicating hydrocephalus... |
ORPHA:2268 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, Unilateral narrow palpebral fissure, Persistence of primary teeth, Malar fla... |
OMIM:618727 |
Mirage Syndrome |
|
Hydrocephalus, Decreased body weight, Lymphopenia, Cryptorchidism, Short stature, Hypergonadotrop... |
OMIM:617053 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hyperextensibility of the finger joints, Joint laxity, Growth delay, Abnormal lateral ventricle m... |
ORPHA:488635 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Splenomegaly, Hepatosplenomegaly, Death in childhood, Ventriculomegaly, Pancytopen... |
OMIM:610333 |
Ring Chromosome 22 Syndrome |
|
Growth delay, Thick eyebrow, Microcephaly, Neurofibromas, Epicanthus, Protruding tongue, Thick ve... |
ORPHA:1446 |
Cartilage-Hair Hypoplasia |
|
Accelerated skeletal maturation, Sparse eyebrow, Abnormally ossified vertebrae, Short neck, Rhizo... |
ORPHA:175 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Platyspondyly, Short neck, Microdontia, Disproportionate short-trunk short stature, O... |
OMIM:242900 |
Harel-Yoon Syndrome |
|
Corneal opacity, Upslanted palpebral fissure, Micrognathia, Scoliosis, Peripheral axonal neuropat... |
OMIM:617183 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Microphthalmia, Cryptorchidism, Small for gestational age, Hypergonadotropic hypogon... |
OMIM:600901 |
Temtamy Syndrome |
|
Macrocephaly, Micrognathia, Joint hyperflexibility, Genu varum, Telecanthus, Iris coloboma, Micro... |
ORPHA:1777 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Lumbar hyperlordosis, Narrow palate, Hyperplasia of the maxilla, Scoliosis, ... |
ORPHA:313892 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Genu recurvatum, Joint laxity, Cataract, Bilateral microphthalmos, Narrow palpebral fissure, Hip ... |
OMIM:608763 |
Edinburgh Malformation Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Failure to thrive, Hydrocephalus, Narrow mouth, Joint stiff... |
ORPHA:1895 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Craniosynostosis, Attenuation of retinal blood vessels, Optic disc p... |
ORPHA:468631 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Microphthalmia, Short stature, Thin vermilion border, Platyspondyly,... |
ORPHA:85194 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, High palate, Lumbar hyperlordosis, Macrocephaly, Cryptorchidism,... |
OMIM:617796 |
Mmep Syndrome |
|
Microcephaly, Oral cleft, Median cleft lip, Microphthalmia, Mandibular prognathia, Cryptorchidism |
ORPHA:3434 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Macrocephaly, Microretrognathia, Chorioretinal atrophy, Dilated fourth ventricle, ... |
OMIM:220220 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft palate, Sparse eyebrow, Short philtrum, Downslanted palpebral fissures, Tented... |
OMIM:612530 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Osteopenia, Primary amen... |
ORPHA:2232 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight, Long philtrum |
ORPHA:324422 |
Faciothoracogenital Syndrome |
|
Prominent scrotal raphe, Micrognathia, Glandular hypospadias, Long philtrum, Shawl scrotum, Micro... |
OMIM:227320 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Flexion contracture, Micropenis, Hypospadias, Developmental cataract, Death in i... |
OMIM:618815 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Cleft palate, Platyspondyly, Short neck, Anisospondyly, Cataract, Ovoid vertebral bo... |
ORPHA:163649 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Camptodactyly, Hypoplastic frontal sinuses, E... |
OMIM:136760 |
Sialidosis Type 2 |
|
Kyphosis, Corneal opacity, Flexion contracture, Short stature, Abnormal macular morphology, Splen... |
ORPHA:87876 |
Morquio Syndrome C |
|
Corneal opacity, Platyspondyly, Severe short stature |
OMIM:252300 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Sparse eyelashes, Retrognathia, Microcephaly, Microcornea, Partial agenesis of the ... |
OMIM:234050 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Short stature, Thin vermilion border, Aplasia/Hypoplasia of the eyebrow, Carious t... |
ORPHA:2701 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Wide mouth, Widely spaced primary teeth, Micropenis, Short stature, Optic nerve hypoplasia, Micro... |
OMIM:300953 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Ectropion, Lymphopenia, Microphthalmia, Short stature, Eclabion, Carious teeth... |
OMIM:616395 |
Microphthalmia, Lenz Type |
|
Kyphosis, Ankyloblepharon, Short stature, Hypospadias, Abnormality of the dentition, Microcephaly... |
ORPHA:568 |
Micro Syndrome |
|
High palate, Kyphosis, Joint stiffness, Abnormality of retinal pigmentation, Hypoplasia of penis,... |
ORPHA:2510 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Tooth agenesis, Cervical platyspondyly, Short philtrum, Macrodontia, Scoliosis, Microcephaly, Dow... |
OMIM:618731 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hypergonadotropic hypogonadism, Abnormality of the cervical spine, Male hypo... |
OMIM:307500 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Microphthalmia, Short stature, Microcephaly, Retinal detachm... |
OMIM:251270 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae, Congenital ptosis |
OMIM:192800 |
Verheij Syndrome |
|
Short stature, Hemivertebrae, Microcephaly, Short neck, Long philtrum, Scoliosis, Thin upper lip ... |
OMIM:615583 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Khan-Khan-Katsanis Syndrome |
|
Corneal scarring, Failure to thrive, Intrauterine growth retardation, Triangular mouth, Flexion c... |
OMIM:618460 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Micropenis, Retinal dysplasia, Opacification of the corneal stroma, Anencephaly, O... |
OMIM:615287 |
Metatropic Dysplasia |
|
Kyphosis, Hydrocephalus, Joint stiffness, Severe short stature, Cleft palate, Camptodactyly of fi... |
ORPHA:2635 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Downslanted... |
OMIM:265000 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hydrocephalus, Hypoplasia of the uterus, Cleft palate, Micropenis, Short stature, Hyposp... |
OMIM:309801 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
2Q31.1 Microdeletion Syndrome |
|
Cleft palate, Short neck, Optic disc coloboma, Downslanted palpebral fissures, Microphthalmia, De... |
ORPHA:251014 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Idiopathic Uveal Effusion Syndrome |
|
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Increas... |
ORPHA:209956 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Subcapsular cataract, Aqueductal stenosis, Enamel hypoplasia, Shovel-shaped maxillary central inc... |
OMIM:600907 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Failure to thrive, Hydrocephalus, Short stature, Microcephaly, Scoliosis, Long philt... |
ORPHA:250989 |
Diencephalic Syndrome |
|
Hydrocephalus, Decreased body weight, Everted lower lip vermilion, Cachexia, Long penis, Optic at... |
ORPHA:1672 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Microcornea, Carious teeth, Optic atrophy, Microphthalmia, Mandi... |
OMIM:133540 |
Apert Syndrome |
|
Vertebral segmentation defect, Hydrocephalus, Narrow palate, Ovarian neoplasm, Cleft palate, Dela... |
ORPHA:87 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Failure to thrive, Hydrocephalus, Macrocephaly, Osteomye... |
OMIM:259700 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypo... |
ORPHA:363741 |
Marshall-Smith Syndrome |
|
High palate, Hydrocephalus, Accelerated skeletal maturation, Craniosynostosis, Eclabion, Short ph... |
OMIM:602535 |
Aniridia 1 |
|
Glucose intolerance, Ptosis, Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia... |
OMIM:106210 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Corneal opacity, Cleft palate, Short stature, Upslanted pal... |
ORPHA:1794 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Narrow mouth, Decreased body weight, Dysplastic corpus callosum, Flexion contracture, Short statu... |
OMIM:614833 |
Otodental Syndrome |
|