Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Microphthalmia, Ventriculomegaly |
ORPHA:324416 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Microphthalmia, Agene... |
ORPHA:1528 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
ORPHA:352682 |
Gastroschisis |
|
Abdominal wall defect, Gastroschisis |
OMIM:230750 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:218670 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Optic atrophy, Ventriculomegaly |
OMIM:617255 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Orbital cyst, Eyelid coloboma, Microphthalmia, Agenesis of c... |
OMIM:164180 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
OMIM:615191 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... |
OMIM:615558 |
Hartsfield Syndrome |
|
Encephalocele, Telecanthus, Lobar holoprosencephaly, Microphthalmia, Intrauterine growth retardat... |
ORPHA:2117 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Dandy-Walker malformation |
OMIM:614465 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Retinal dysplasia, Ventriculomegaly |
OMIM:614830 |
Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Downslanted palpebral fissures, V... |
ORPHA:2185 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Optic nerve hypoplasia, Bilateral microphthalmos, Eyelid coloboma, Ethmoidal encepha... |
OMIM:607597 |
Joubert Syndrome 9 |
|
Encephalocele, Retinal dystrophy, Ventriculomegaly |
OMIM:612285 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Morning glory anomaly, Highly arched eyebrow, Hydrocephalus, Meningoce... |
OMIM:614424 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Retinopathy |
OMIM:617562 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Retinal detachment, Optic nerve hypoplasia, Hy... |
ORPHA:370959 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Hypertriglyceridemia |
ORPHA:436182 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Distal Deletion 13Q |
|
Encephalocele, Optic atrophy, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia affecting the eye |
ORPHA:1590 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Absent eyebrow, Absent eyelashes |
OMIM:200130 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Death in infancy, Ventriculomegaly, Remnants of the hyaloid va... |
OMIM:614643 |
Cocaine Embryofetopathy |
|
Encephalocele, Thoracoabdominal eventration |
ORPHA:1911 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Dandy-Walker malformation |
ORPHA:217 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retarda... |
OMIM:603194 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hydrocephalus, Hypoplasia of the iris, Small pituitary gland, Nasofrontal ence... |
OMIM:614195 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Bazex Syndrome |
|
Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Gastroschisis |
|
Gastroschisis |
ORPHA:2368 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Lateral ventricle dilatation, Downslanted palpebral fissures, Spina bifid... |
OMIM:618736 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Anterior basal encephalocele, Cranium bifidum occultum, Microphthalmia, Agenesis of c... |
OMIM:136760 |
Frontofacionasal Dysplasia |
|
Encephalocele, Telecanthus, Blepharophimosis, Upper eyelid coloboma, Absent inner eyelashes, Limb... |
ORPHA:1791 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Joubert Syndrome 7 |
|
Encephalocele, Retinal dystrophy, Ptosis |
OMIM:611560 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Ablepharon, Ventriculomegaly, Spina bifida |
OMIM:616038 |
Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retar... |
OMIM:611134 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia |
OMIM:611638 |
Dk Phocomelia Syndrome |
|
Encephalocele |
OMIM:223340 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Partial agenesis of the corpus callosum, Optic atrophy, Micro... |
OMIM:616171 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Pigmentary retinopathy, Optic disc pallor, Ptosis |
OMIM:612291 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele |
ORPHA:1003 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Aganglionic megacolon, Retinal dystrophy, Highly arched eyebrow, Hydrocephalus, Ch... |
ORPHA:2318 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microphthalmia |
OMIM:613885 |
Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Hydrocephalus, Optic atrophy, Retinal dysplasia, Holoprosencep... |
OMIM:253800 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Retinal dystrophy, Highly arched eyebrow, Hydrocephalus, Re... |
ORPHA:220493 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele |
OMIM:213010 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Epicanthus, Anencephaly, Narrow palpebral fiss... |
OMIM:614175 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Microphthalmia, Partial agenesis of the corpus callosum, Retinal dysplasia |
OMIM:615771 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia |
OMIM:615924 |
Pseudoprogeria Syndrome |
|
Cranium bifidum occultum, Absent eyebrow, Absent eyelashes, Sparse eyebrow |
ORPHA:2985 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Limbal dermoid, Upper eyelid coloboma |
ORPHA:398156 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Abnormality of reproductive sys... |
ORPHA:1501 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Epicanthus, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosen... |
ORPHA:1908 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Telecanthus, Upslanted palpebral fissure, Microphthalmia, Intrauterine growth reta... |
ORPHA:228390 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Difficulty walking |
OMIM:610717 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Hydrocephalus, Hypothalamic hamartoma, Anterior hypopi... |
OMIM:241800 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Anophthalmia Plus Syndrome |
|
Blepharophimosis, Eyelid coloboma, Anophthalmia, Spina bifida |
ORPHA:1104 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Crypto... |
OMIM:248450 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia |
OMIM:616947 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Absent eyebrow, Ablepharon, Ectropion, Inguinal hernia, Cicatricial lagophthalmos, A... |
OMIM:263650 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:250972 |
Schisis Association |
|
Encephalocele, Omphalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Retinal detachment, Retinal atrophy, Ventriculomegaly, Optic nerve hypop... |
OMIM:236670 |
Meckel Syndrome, Type 9 |
|
Occipital encephalocele |
OMIM:614209 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Hydrocephalus, Optic atrophy, Colpocephaly, Death in childhood, Intrauterine gr... |
OMIM:616034 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hydrocephalus, Microphthalmia, Ventriculomegaly, Intrauterin... |
ORPHA:858 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Ups... |
OMIM:609637 |
Jacobsen Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Abnormal eyelash morphology, Hydrocephalus, Optic atrophy, Nasol... |
OMIM:147791 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Almond-shaped palpebral fissure, Intrauterine growth retardation, Frontal encephalocele, Agenesis... |
ORPHA:521308 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Telecanthus, Anterior pituitary hypoplasia, Meningocele, Choroid plexus cyst, Hypo... |
ORPHA:1827 |
Parietal Foramina 1 |
|
Encephalocele |
OMIM:168500 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Retinal dystrophy, Hydrocephalus, Optic disc col... |
OMIM:608091 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Optic atrophy, Microphthalmia, Intrauterin... |
ORPHA:1466 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos |
ORPHA:2717 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Gastroschisis, Spina bifida |
ORPHA:2476 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Ventriculomega... |
OMIM:605627 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... |
OMIM:615113 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Death in infancy, Neonatal death, Microphthalmia, Ventriculomegaly |
OMIM:613730 |
Frontorhiny |
|
Encephalocele, Epicanthus, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Hypopit... |
ORPHA:391474 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Ventriculomegaly, Spina bifida, Absent eyelashes, Choroid plexus cyst, Agenesis of co... |
OMIM:256520 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Optic atrophy, Colpocephaly, Long eyelashes, Death in childhood, Umbilical herni... |
OMIM:618651 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616570 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Chor... |
OMIM:603671 |
Holoprosencephaly |
|
Anophthalmia, Synophrys, Holoprosencephaly, Chorioretinal coloboma, Dandy-Walker malformation, En... |
ORPHA:2162 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Molar tooth si... |
OMIM:614815 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Retinal detachment, Optic disc pallor, Epicanthus, Telecanthus, Phthisis... |
OMIM:267750 |
Knobloch Syndrome |
|
Retinal detachment, Occipital encephalocele, Epicanthus, Hydrocephalus, Abnormal vitreous humor m... |
ORPHA:1571 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Ptosis |
ORPHA:1473 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, O... |
ORPHA:141099 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele |
OMIM:615397 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Inguinal hernia, True hermaphroditism, Abnormal labia morphology, Ambiguous genita... |
ORPHA:325345 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Ventriculomegaly, Hydrocephalus, Death in childhood, Microphthalmia, Agenesis... |
OMIM:613153 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Agenesis of corpus callosum, Optic atrophy |
OMIM:274270 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Peripheral axonal neuropathy, Optic disc hypoplasia, Dysplastic corpus callosum, Colpocephaly, Ag... |
OMIM:619955 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Optic disc pallor, Ptosis |
OMIM:216360 |
Fraser Syndrome 1 |
|
Encephalocele, Absent eyebrow, Anophthalmia, Absent eyelashes, Hydrocephalus, Myelomeningocele, B... |
OMIM:219000 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Retinal detachment, Ventriculomegaly, Hydrocephalus, Optic atrophy... |
OMIM:619833 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Hydrocephalus, Agenesis of corpus ca... |
ORPHA:220497 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Epicanthus, Ventriculomegaly, Retinal dystrophy, Subretinal deposits, Me... |
ORPHA:397715 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Inguinal hernia, Highly arched eyebrow, Hydrocephalus, Optic disc colobo... |
ORPHA:1454 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Lateral ventricle dilatat... |
OMIM:613154 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Megalopapilla, Retinopathy, ... |
OMIM:615636 |
Griscelli Syndrome |
|
Encephalocele, Abnormal eyebrow morphology, Hydrocephalus, Abnormal eyelash morphology |
ORPHA:381 |
Pai Syndrome |
|
Encephalocele, Telecanthus, Downslanted palpebral fissures |
ORPHA:1993 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Omphalocele, Hydrocephalus, Upslanted palpebral fissure, Holoprosencephaly, Microp... |
OMIM:264480 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Growth delay |
OMIM:300804 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting |
OMIM:609218 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus, Retinal dystrophy, Facial palsy |
OMIM:613155 |
Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth, Cryptophthalmos |
OMIM:617667 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Colpoceph... |
OMIM:615219 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Optic atrophy, Narrow palpebral fissure, Lateral ventricle dilatation, Microphthalmia |
OMIM:614219 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures, Ptosis |
OMIM:268850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Hydrocephalus, Buphthalmos, Microphthalmia, Agenesis of corpus c... |
OMIM:613150 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele |
OMIM:614416 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Hydrocephalus, Ptosis |
ORPHA:475 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Capillary hemang... |
ORPHA:2849 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydrocephalus, Abnor... |
ORPHA:1532 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia, Agenesis ... |
OMIM:613001 |
Barber-Say Syndrome |
|
Ablepharon, Telecanthus, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Ectropion |
ORPHA:1231 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Telecanthus, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Upslanted palpebr... |
OMIM:613451 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv... |
OMIM:615287 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Inferior chorioretinal coloboma |
OMIM:614497 |
Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Ptosis |
OMIM:600118 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma |
OMIM:613456 |
Treacher Collins Syndrome 4 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:618939 |
Cat-Eye Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Downslanted palpebral fissures, Chorioretinal co... |
ORPHA:195 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Acrofacial Dysostosis, Cincinnati Type |
|
Lower eyelid coloboma, Ablepharon, Downslanted palpebral fissures, Upper eyelid coloboma |
OMIM:616462 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia, Abnormality of the ear |
OMIM:600776 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Eyelid coloboma, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum |
ORPHA:268249 |
Microphthalmia, Isolated 6 |
|
Microphthalmia, Retinal fold |
OMIM:613517 |
Iniencephaly |
|
Encephalocele, Omphalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dy... |
ORPHA:63259 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Eyelid coloboma, Dandy-Walker malformation, Ventriculomegaly, Ptosis |
ORPHA:1647 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Short stature |
ORPHA:166024 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Neonatal death, Microphthalmia, Int... |
ORPHA:85284 |
Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Abs... |
OMIM:229400 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Chorioretinal coloboma, Ptosis |
OMIM:300915 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Anencephaly |
OMIM:614120 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Epicanthus, Retinal dystrophy, Highly arched eyebrow, Pigmentar... |
OMIM:608629 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Congenital ... |
ORPHA:314621 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
Constricting Bands, Congenital |
|
Encephalocele, Omphalocele, Eyelid coloboma, Gastroschisis, Bladder exstrophy |
OMIM:217100 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Long eyelashes, Microphthalmia, Cryptophthalmos |
OMIM:615877 |
Momo Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Eyelid coloboma, Retinal coloboma |
OMIM:157980 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Impotence, Xerostomia, Hypohidrosis |
ORPHA:43393 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Abnormal chorioretinal morphology, Hydrocephalus, Anencephaly, Optic... |
ORPHA:564 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Intrauterine growth retardation, Abnormal lateral ventricle morphology |
ORPHA:488635 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly |
OMIM:614870 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Omphalocele, Anophthalmia, Myelomeningocele, Lacrimal duct aplas... |
ORPHA:2052 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Ablepharon, Absent eyebrow, Absent eyelashes, Umbilical hernia, Cryptophthalmos |
ORPHA:920 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Lateral ventricle d... |
OMIM:619517 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Retinopathy, Ataxia |
ORPHA:79476 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Orbital cyst |
OMIM:251505 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis |
OMIM:615665 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Miscarriage, Pterygium |
ORPHA:1865 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Esophageal carci... |
ORPHA:139507 |
Burn-Mckeown Syndrome |
|
Blepharophimosis, Inguinal hernia, Lower eyelid coloboma, Short palpebral fissure |
OMIM:608572 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Hydrocephalus, Cranial nerve compr... |
ORPHA:2356 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ventriculomegaly, Long eyelashes, Abnormality of peripheral nerve conduction, Microphthalmia, Mot... |
ORPHA:48431 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Epicanthus, Hydrocephalus, Microphthalmia, Downslanted palpebral fissures, Ventriculomegaly |
OMIM:602501 |
Momo Syndrome |
|
Epicanthus, Bilateral microphthalmos, Eyelid coloboma, Chorioretinal coloboma, Downslanted palpeb... |
ORPHA:2563 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia |
OMIM:618890 |
Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Meningocele, Facial palsy, Pseudopapilledema |
ORPHA:3456 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Epicanthus, Anencephaly, Microphthalmia, Agenesis of corpus callosum, Dandy-Walker... |
OMIM:619148 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Shallow orbits |
OMIM:224400 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Hypoplasia of eyelid, Hydrocephalus, Optic atrophy, In... |
OMIM:619321 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Omphalocele, Spina bifida, Meningocele, Optic atrophy |
ORPHA:991 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Up... |
OMIM:152950 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Overfolded helix, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Microphthalmia, Do... |
OMIM:614105 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Occipital encephalocele, Pterygium |
OMIM:224410 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Cranium bifidum occultum, Micropht... |
ORPHA:306542 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Retinal dystrophy |
OMIM:619562 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia, Hydrocephalus |
ORPHA:974 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Optic disc hypoplasia, Lateral ventricle dilatation, Downslanted palpebral fis... |
ORPHA:420179 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Omphalocele, Sparse eyebrow, Stillbirth, Microphthalmia, Dandy-Walker malformation |
OMIM:616300 |
Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Unilateral Ocular Duplication |
|
Encephalocele, Abnormal eyebrow morphology, Blepharophimosis |
ORPHA:3374 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Walker-Warburg Syndrome |
|
Retinal detachment, Ventriculomegaly, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, H... |
ORPHA:899 |
Teebi Hypertelorism Syndrome 2 |
|
Upper eyelid coloboma, Thick eyebrow, Ptosis |
OMIM:619736 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Hydrocephalus, Holoprosencephaly, Microphthalmia, Umbilical hernia |
ORPHA:2166 |
Aicardi Syndrome |
|
Retinal detachment, Spina bifida, Hiatus hernia, Chorioretinal lacunae, Partial agenesis of the c... |
OMIM:304050 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy |
OMIM:617757 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Agenesis of corpus callosum, Optic disc pallor, Highly arched eyebrow |
OMIM:300887 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... |
ORPHA:83461 |
Rere-Related Neurodevelopmental Syndrome |
|
Ptosis, Epicanthus, Ventriculomegaly, Optic atrophy, Chorioretinal coloboma, Blepharophimosis, Mi... |
ORPHA:494344 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery |
ORPHA:1203 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:120433 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Knobloch Syndrome 2 |
|
Encephalocele, Retinal detachment, Vitreoretinopathy, Vitreous floaters |
OMIM:618458 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Microphthalmia, Epicanthus |
ORPHA:2528 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum, Retinal degen... |
OMIM:615249 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Ataxia, Retinopathy, Retinal degeneration |
OMIM:200100 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Jacobsen Syndrome |
|
Death in infancy, Epicanthus, Ectropion, Inguinal hernia, Ventriculomegaly, Spina bifida, Agenesi... |
ORPHA:2308 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Bartsocas-Papas Syndrome |
|
Ankyloblepharon, Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypopl... |
ORPHA:1234 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Abnormal heart morphology, Atrop... |
ORPHA:356961 |
Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Long palpebral fissure, Microphthalmia, Agenesis of corpus ca... |
OMIM:614583 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus |
ORPHA:141333 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly, Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:617127 |
Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Developmental And Epileptic Encephalopathy 31B |
|
Almond-shaped palpebral fissure, Optic atrophy, Colpocephaly, Long palpebral fissure, Agenesis of... |
OMIM:620352 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Gait ataxia |
ORPHA:363400 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Aganglionic megacolon, Blepharophimosis, Eyelid coloboma, Abnormal conju... |
ORPHA:3339 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Ablepharon, Omphalocele, Hypoplasia of eyelid, Absent eyelashes, ... |
OMIM:200110 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Rod-cone dystrophy, Retinal coloboma, Ptosis |
OMIM:610188 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Highly arched eyebrow, Synophrys, Lateral ventricle dilatation, Long pa... |
OMIM:617751 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Omphalocele, Myelomeningocele, Hydrocephalus, Downslanted palpebral fissures |
ORPHA:90652 |
Charge Syndrome |
|
Ptosis, Epicanthus, Anophthalmia, Facial palsy, Highly arched eyebrow, Aqueductal stenosis, Optic... |
ORPHA:138 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Colpocephaly, Micr... |
OMIM:609053 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea... |
OMIM:167800 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia |
OMIM:619111 |
Postaxial Acrofacial Dysostosis |
|
Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures |
ORPHA:246 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Pulmonary hypoplasia, Low-set ears |
OMIM:601163 |
Cach Syndrome |
|
T2 hypointense thalamus, Optic atrophy, Lateral ventricle dilatation, Optic neuritis, Intrauterin... |
ORPHA:135 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Acrofrontofacionasal Dysostosis |
|
Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis |
ORPHA:1784 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Temtamy Syndrome |
|
Microphthalmia, Telecanthus, Chorioretinal coloboma |
ORPHA:1777 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Anophthalmia, Femoral hernia, Spina bifida, Aqueductal stenosis, Hydrocephalus, ... |
ORPHA:3412 |
Pierpont Syndrome |
|
Microphthalmia, Telecanthus, Narrow palpebral fissure, Ventriculomegaly |
ORPHA:487825 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid |
ORPHA:209956 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Temtamy Syndrome |
|
Highly arched eyebrow, Downslanted palpebral fissures, Chorioretinal coloboma, Microphthalmia, Ag... |
OMIM:218340 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98855 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Optic disc coloboma |
OMIM:169550 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Pierpont Syndrome |
|
Telecanthus, Abnormal peripheral nervous system morphology, Narrow palpebral fissure, Blepharophi... |
OMIM:602342 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... |
OMIM:212550 |
Oculoectodermal Syndrome |
|
Epicanthus, Chorioretinal atrophy, Pineal cyst, Eyelid coloboma, Limbal dermoid, Bladder exstrophy |
OMIM:600268 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Limb Body Wall Complex |
|
Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Diastasis recti, Spina bifida, Myelo... |
ORPHA:2369 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Chorioretinal coloboma, Long palpebral fissure, Microphthalmia... |
OMIM:243310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly |
OMIM:616538 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exudative vitreore... |
ORPHA:2788 |
Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Lateral ventricle dilatation |
OMIM:618266 |
Gorlin-Chaudhry-Moss Syndrome |
|
Umbilical hernia, Upper eyelid coloboma, Abnormal eyelid morphology |
ORPHA:2095 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Telecanthus, Retinitis, Partial agenesis of the corpus callosum, Optic d... |
OMIM:615948 |
Vacterl/Vater Association |
|
Omphalocele, Occipital encephalocele, Anencephaly, Intrauterine growth retardation |
ORPHA:887 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase |
OMIM:604484 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen mor... |
ORPHA:2470 |
Alg2-Cdg |
|
Epicanthus, Downslanted palpebral fissures, Lateral ventricle dilatation |
ORPHA:79326 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Optic atrophy, Pulmonary hypoplasia |
OMIM:618174 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Retinopathy, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Fraser Syndrome 2 |
|
Microphthalmia, Cryptophthalmos |
OMIM:617666 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Upslanted palpebral fissure, Lateral ventricle dilatation, Dilated fourth ventricle, Ventriculome... |
OMIM:613443 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Rod-cone dystrophy, Phthisis ... |
OMIM:612109 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98863 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Occipital encephalocele, Ptosis, Dilated fourth ventricle, Ventriculomegaly, Large p... |
OMIM:249000 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Epicanthus, Inguinal hernia, Umbilical hernia, Microphthalmia, Retinopathy |
ORPHA:2505 |
Dermatomyositis |
|
Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... |
ORPHA:221 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98853 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Synophrys, Narrow palpebral fissure, Colpocephaly, Agenesis of corpus callosum, Ve... |
OMIM:620156 |
Helsmoortel-Van Der Aa Syndrome |
|
Epicanthus, Ventriculomegaly, Facial palsy, Decreased response to growth hormone stimulation test... |
OMIM:615873 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Pulmonary hypoplasia |
ORPHA:2141 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Narrow palpebral fissure, Microphthalmia, Ptosis |
OMIM:615145 |
Nager Syndrome |
|
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... |
ORPHA:245 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Bilateral microphthalmos |
ORPHA:77299 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Lens coloboma, Lateral ventricle dilatation, Umbilical hernia, Microphthalmia |
OMIM:618914 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Absent eyelashes, Blepharospasm, Eyelid coloboma, Microphthalmi... |
ORPHA:861 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Ptosis |
OMIM:619972 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Lateral ... |
OMIM:617296 |
Treacher Collins Syndrome 3 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:248390 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
Weiss-Kruszka Syndrome |
|
Epicanthus, Highly arched eyebrow, Colpocephaly, Downslanted palpebral fissures, Agenesis of corp... |
OMIM:618619 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Ptosis |
OMIM:618731 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Pulmonary hypoplasia |
OMIM:615228 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1553 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Meckel Syndrome 14 |
|
Microphthalmia, Occipital encephalocele, Holoprosencephaly |
OMIM:619879 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia, Abnormality of r... |
ORPHA:290 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Lower eyelid coloboma |
OMIM:616367 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Downslanted palpebral fissures |
ORPHA:1617 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Death in childhood,... |
OMIM:612301 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Optic atrophy, Dandy-Walker malformation |
ORPHA:3078 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Inguinal hernia, Sparse eyelashes, Absent eyelashes, Bilateral ptosis, Sparse eye... |
ORPHA:544488 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Microphthalmia, Sparse medial eyeb... |
OMIM:618804 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Epicanthus, Optic nerve hypoplasia, Bilateral ptosis, Partial agenesis of the corpus callosum, Co... |
ORPHA:300570 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Dysplastic corpus callosum, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:614833 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia, Gait disturbance |
ORPHA:819 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Long palpebral fissure, Lateral ventricle dilatation |
OMIM:618330 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Hooded eyelid, Sparse eyelashes, Hydrocephalus, Upslanted palpebra... |
OMIM:612863 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens, Abnormal eyebrow morphology |
ORPHA:85194 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Lower eyelid c... |
OMIM:154400 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Lateral ventricle dilatation |
OMIM:617668 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Retinal coloboma, Hydranencephaly, Short p... |
ORPHA:2839 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Macular dystrophy, Eyelid coloboma, Retinal dystrophy, Telecanthus |
ORPHA:140952 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Norrie Disease |
|
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... |
OMIM:310600 |
Pontocerebellar Hypoplasia Type 10 |
|
Growth delay, Abnormal brainstem morphology |
ORPHA:411493 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Epicanthus, Long palpebral fissure, Microphthalmia, Hypopigmentation of the f... |
ORPHA:163649 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Intrauterine growth retardation, Hydrocephalus, Death in infancy |
ORPHA:163966 |
Hydrolethalus |
|
Anophthalmia, Hydrocephalus, Anencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:2189 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Axonal loss, Peripheral demyelination, Lateral ventricle ... |
OMIM:221770 |
Trisomy 13 |
|
Anophthalmia, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Optic atrophy, A... |
ORPHA:3378 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia |
OMIM:615524 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma |
ORPHA:231736 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Highly arched eyebrow, Upslanted palpebral fissure, Colpocephaly, Ventric... |
ORPHA:261250 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Optic atrophy, Microphthalmia, Agenesis of corpus callosum |
ORPHA:3301 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Partial agenesis of the corpus callosum, Optic atrophy, Keratoconju... |
OMIM:234050 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Lateral ventricle dilatatio... |
OMIM:256850 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Microphthalmia, Ventr... |
OMIM:610651 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Melioidosis |
|
Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, Abnormality of the spleen, H... |
ORPHA:31202 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Atelosteogenesis, Type I |
|
Encephalocele, Stillbirth, Neonatal death |
OMIM:108720 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital myelo... |
OMIM:213300 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Ataxia |
OMIM:617575 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Monosomy 9Q22.3 |
|
Epicanthus, Hydrocephalus, Umbilical hernia, Downslanted palpebral fissures, Microphthalmia, Reti... |
ORPHA:77301 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia |
OMIM:610125 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Nance-Horan Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:627 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Khan-Khan-Katsanis Syndrome |
|
Trichiasis, Highly arched eyebrow, Epiblepharon, Buphthalmos, Pigmentary retinopathy, Colpocephal... |
OMIM:618460 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature |
OMIM:619185 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Diamond-Blackfan Anemia 11 |
|
Eyelid coloboma |
OMIM:614900 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Intrauterine growth retardation, Hydrocephalus |
OMIM:300863 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Pontocerebellar Hypoplasia, Type 1A |
|
Degeneration of anterior horn cells, Lateral ventricle dilatation |
OMIM:607596 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Optic atrophy, Unilateral microphthalmos |
OMIM:615085 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Long palpebral fissure, Microphthalmia, Upslanted palpebral fissure, Sparse lateral eyebrow |
OMIM:619694 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the... |
OMIM:616546 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Epicanthus, Palpebral edema, Optic nerve dysplasia, Optic atrophy, Death in ado... |
OMIM:614866 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Warburg Micro Syndrome 3 |
|
Blepharophimosis, Microphthalmia, Optic atrophy, Ventriculomegaly |
OMIM:614222 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Stillbirth, Retinal vascular tortuosity, Microphthalmia, A... |
OMIM:243605 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Death in childhood, Blepharophimosis, Microphthalmia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:214150 |
Muscle-Eye-Brain Disease |
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Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Ravine Syndrome |
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Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Cerebellar-Facial-Dental Syndrome |
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Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Abnorma... |
ORPHA:444072 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Intrauterine growth retard... |
ORPHA:79243 |
Microphthalmia With Brain And Digit Anomalies |
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Anophthalmia, Retinal dystrophy, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum |
ORPHA:139471 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Spina bifida occulta, Ventriculomegaly |
OMIM:618291 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
Isolated Klippel-Feil Syndrome |
|
Abnormal cranial nerve morphology, Spina bifida, Hearing impairment |
ORPHA:2345 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Decreased nerve conduction velocity, Intrauterine growth retardation, Lateral ventricle dilatatio... |
ORPHA:565624 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Medial flaring of the eyebrow, Synophrys, Partial agenesis of the corpus callosum, Narrow palpebr... |
OMIM:620113 |
Branchioskeletogenital Syndrome |
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Telecanthus, Highly arched eyebrow, Synophrys, Blepharochalasis, Eyelid coloboma, Bladder exstrop... |
ORPHA:1299 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of ... |
OMIM:619306 |
Holoprosencephaly 7 |
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Omphalocele, Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphtha... |
OMIM:610828 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Omphalocele, Posteriorly rotated ears, Abnormal lung lobation, Large fleshy ears, Pulmonary hypop... |
OMIM:263210 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Abnormal retinal morphology, Bilateral microphthalmos, Death in childhood, Blepharophimosis, Intr... |
OMIM:610758 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Inguinal hernia, Sparse eyebrow, Agenesis of corpus callosum, Lateral ventricle dilat... |
ORPHA:464738 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration |
OMIM:277700 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Microcephaly 20, Primary, Autosomal Recessive |
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Microphthalmia, Intrauterine growth retardation, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:617914 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Alg3-Cdg |
|
Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation, Cardiomyopathy |
ORPHA:79321 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Microphthalmia, Agenesis of corpus callosum |
ORPHA:93267 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Highly arched eyebrow, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus ... |
OMIM:619244 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Highly arched eyebrow, Chorioretinal coloboma, Microphthalmia, Downslanted palp... |
OMIM:619135 |
Pontocerebellar Hypoplasia, Type 13 |
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Epicanthus, Long eyelashes, Dandy-Walker malformation, Lateral ventricle dilatation |
OMIM:618606 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation |
ORPHA:284417 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Abnormal libido, Pancreatoblastoma, Pituitary cor... |
ORPHA:99889 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Upslanted palpebral fissure, Lateral ventricle dilatation |
OMIM:615716 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Downslanted palpebral fissures, Aganglionic mega... |
ORPHA:1438 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
OMIM:313850 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hydrocephalus, Pigmentary retinopathy, Colpocephaly, Microphthalmia, Agenesis of corpus callosum |
OMIM:309801 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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Telecanthus, Epicanthus, Ventriculomegaly, Decreased response to growth hormone stimulation test,... |
OMIM:617260 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Subependymal cysts, Lateral ventricle dilatation |
OMIM:610015 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Spina bifida, Myelomeningocele, Hydrocephalus, Pulmonary hypop... |
ORPHA:2437 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Ventriculomegaly |
OMIM:308350 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia, Ventriculomegaly |
OMIM:100300 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... |
OMIM:120330 |
Marden-Walker Syndrome |
|
Ptosis, Epicanthus, Inguinal hernia, Blepharophimosis, Microphthalmia, Agenesis of corpus callosu... |
OMIM:248700 |
Refsum Disease |
|
Retinopathy, Microphthalmia, Abnormality of retinal pigmentation, Ptosis |
ORPHA:773 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma... |
ORPHA:193 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... |
ORPHA:163961 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Trisomy 18 |
|
Omphalocele, Abnormality of retinal pigmentation, Epicanthus, Spina bifida, Anencephaly, Holopros... |
ORPHA:3380 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... |
OMIM:606519 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
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Epicanthus, Sparse eyebrow, Synophrys, Lateral ventricle dilatation, Downslanted palpebral fissures |
OMIM:620075 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... |
OMIM:113650 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb... |
OMIM:603553 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Microphthalmia, Optic atrophy, Ptosis |
OMIM:615663 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pigmentar... |
OMIM:203800 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Chromosome 13Q14 Deletion Syndrome |
|
Epicanthus, Inguinal hernia, Umbilical hernia, Holoprosencephaly, Chorioretinal coloboma, Microph... |
OMIM:613884 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Upslanted palpebral fissure, Lateral ventricle dilatation, Ptosis |
OMIM:617854 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Optic nerve hypoplasia, Intrauterine growth retardation, Dilated third ... |
OMIM:615574 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Partial agenesis of the c... |
ORPHA:50 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Blepharophimosis, Microphthalmia, Agenesis of corpus... |
OMIM:601707 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Microphthalmia, Syndromic 8 |
|
Blepharophimosis, Microphthalmia, Short palpebral fissure |
OMIM:601349 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Microphthalmia, Intrauterin... |
ORPHA:2510 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Lozenge-shaped umbilicus, Epicanthus, Pigmentary retinopathy, Microphthalmia, Downslanted palpebr... |
OMIM:614230 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:354 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Colpocephaly, Agenesis o... |
OMIM:301043 |
Monosomy 18P |
|
Microphthalmia, Epicanthus, Holoprosencephaly, Ptosis |
ORPHA:1598 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Ventriculomegaly, Hiatus hernia, Optic atrophy, Hypoplasia of the iris, Microphthalmi... |
OMIM:251300 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Narrow palpebral fissure, Retinal coloboma, Horizontal eyebrow, Microphthalmia |
OMIM:618571 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia, Protruding ear |
OMIM:617468 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m... |
ORPHA:449432 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sparse eyebrow, Upslanted palpebral fissure, Holoprosencephaly, Microphthalmia, Downslanted palpe... |
OMIM:612530 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation, Downslanted palpebral fissures |
OMIM:301025 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia, Hearing impairment |
OMIM:616733 |
Agnathia-Otocephaly Complex |
|
Pulmonary hypoplasia, Holoprosencephaly, Low-set ears, Conductive hearing impairment, Synotia |
OMIM:202650 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Upper eyelid coloboma, ... |
OMIM:154500 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Optic atrophy |
OMIM:612379 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Lower eyelid coloboma, Narrow palpebral fissure, Latera... |
OMIM:181270 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia |
OMIM:614096 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:77298 |
Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Inguinal hernia, Ventriculomegaly, Synophrys, Optic disc coloboma, Microphthalmia, Do... |
ORPHA:251014 |
Postaxial Acrofacial Dysostosis |
|
Eyelid coloboma, Downslanted palpebral fissures, Ectropion |
OMIM:263750 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Ataxia, Difficulty walking, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Neonatal death, Microphthalmia, Short palpebral fissure, Intrauterine growth... |
OMIM:251230 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis |
OMIM:301018 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia, Intrauterine grow... |
ORPHA:1352 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Recurrent respiratory infections, Posteriorly rotated ears, Underfolded helix, Large... |
OMIM:618316 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Dysplastic corpus callosum, Retinal coloboma |
ORPHA:2328 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Intrauterine growth retardation, Rod-cone... |
ORPHA:572798 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Inguinal hernia, Agenesis of corpus callosum, Microphthalmia, Downslanted palpebral f... |
OMIM:616449 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Distal Deletion 10Q |
|
Epicanthus, Upslanted palpebral fissure, Facial diplegia, Lateral ventricle dilatation, Spina bif... |
ORPHA:96148 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
X-Linked Intellectual Disability, Wilson Type |
|
Inguinal hernia, Lateral ventricle dilatation |
ORPHA:85290 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Hydrocephalus, Death in infancy |
OMIM:602361 |
Glutaric Acidemia I |
|
Symmetrical progressive peripheral demyelination, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Epicanthus, Inguinal hernia |
ORPHA:3191 |
Bartsocas-Papas Syndrome 2 |
|
Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Omphalocele, Pulmonary hypoplasia |
ORPHA:3035 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Abnormal thalamus morpholog... |
ORPHA:404440 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Microtia, Spina bifida |
ORPHA:1327 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Late... |
OMIM:615485 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Ventriculomegaly, Optic nerve hypoplasia, Spina bifida, Facial palsy, Almond-s... |
ORPHA:508498 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Bilateral microphth... |
ORPHA:2399 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Microphthalmia, Highly arched eyebrow, Ptosis |
ORPHA:2712 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia |
ORPHA:1135 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia |
OMIM:619003 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Pulmonary hypoplasia, Low-set ears |
OMIM:236500 |
Duane-Radial Ray Syndrome |
|
Epicanthus, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Retinal coloboma, Microph... |
OMIM:607323 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
Sweeney-Cox Syndrome |
|
Upper eyelid coloboma |
OMIM:617746 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Holoprosencephaly, Microphth... |
OMIM:147250 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Lipemia re... |
ORPHA:444490 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Holoprosencephaly, Synotia, Narrow internal auditory canal, Ab... |
ORPHA:990 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Epicanthus, Dysplastic corpus callosum, Upslanted palpebral fissure, Colpocephaly, H... |
OMIM:618820 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Roberts-Sc Phocomelia Syndrome |
|
Hydrocephalus, Frontal encephalocele, Eyelid coloboma, Stillbirth, Severe intrauterine growth ret... |
OMIM:268300 |
Poland Syndrome |
|
Encephalocele, Spina bifida occulta, Retinal hamartoma |
ORPHA:2911 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Pulmonary hypoplasia, Low-set ears, Hearing impairment |
ORPHA:2655 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, P... |
ORPHA:93111 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Highly arched eyebrow, Colpocephaly, Blepharophimosis, Downslanted palpebral f... |
OMIM:620083 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
OMIM:611038 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Hypertrophic cardiomyopathy, Abnormal brainstem morphology |
ORPHA:79279 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Hypoplasia of the r... |
OMIM:253280 |
Seckel Syndrome 10 |
|
Retinal detachment, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Isolated Arrhinia |
|
Microphthalmia, Eyelid coloboma |
ORPHA:1134 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Pulmonary hypoplasia, Low-set ears |
OMIM:617895 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Short stature, Hypoplastic left heart, Molar tooth sign on MRI, Occ... |
OMIM:277170 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Aganglionic megacolon, Abnormal eyelash morphology, Optic atrophy, Upslanted palpebra... |
ORPHA:818 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Epicanthus, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum, Intraute... |
ORPHA:250989 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia, Hearing impairment |
ORPHA:93296 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma, Retinal coloboma |
ORPHA:2791 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Bilateral microphthalmos, Upslanted palpebral fissure, Horizontal eyebrow, Umbilical ... |
ORPHA:369891 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Facial palsy |
OMIM:255320 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Spina bifida, Congenital sensorineural hearing impairment, Meningocele, He... |
ORPHA:894 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Upslanted palpebral fissure, Long eyelashes, Blepharophimosis, Microphthalmia |
OMIM:617883 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Lateral ventricle dilatation, Hypothalamic... |
ORPHA:2822 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Dubowitz Syndrome |
|
Epicanthus, Telecanthus, Inguinal hernia, Blepharophimosis, Hypoplasia of the iris, Microphthalmi... |
OMIM:223370 |
Aicardi-Goutieres Syndrome 9 |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Optic atrophy, Chorioretinal atrophy |
OMIM:619487 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Pulmonary hypoplasia |
ORPHA:1486 |
Acrofrontofacionasal Dysostosis 1 |
|
Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Microphthalmia, Ptosis |
OMIM:201180 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormal lung morphology, Lymphoma, Abnormality ... |
ORPHA:449563 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Ataxia, Increased circul... |
ORPHA:167 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Intrauterine growth retardation, Death in childhood |
OMIM:610756 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Weaver Syndrome |
|
Epicanthus, Inguinal hernia, Diastasis recti, Lateral ventricle dilatation, Umbilical hernia, Dow... |
OMIM:277590 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Severe sensorineural hearing impairment, Meningocele |
ORPHA:2003 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
Moebius Syndrome |
|
Epicanthus, Microphthalmia, Congenital fibrosis of extraocular muscles, Facial diplegia |
OMIM:157900 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Mosaic Trisomy 1 |
|
Omphalocele, Congenital bilateral ptosis, Lateral ventricle dilatation, Downslanted palpebral fis... |
ORPHA:1692 |
Fetal Alcohol Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele, Protruding ear |
ORPHA:2031 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Microphthalmia, Downslanted p... |
OMIM:620098 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Microtia, Pulmonary hypoplasia |
OMIM:608149 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Blepharophimosis, Hydrocephalus, Upper eyelid coloboma, Br... |
OMIM:164210 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma... |
ORPHA:68 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus, Peripheral pulmonary vessel aplasia, Gastroschisis, Pulmonary hypoplasia, Low-set ... |
OMIM:273395 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... |
OMIM:615710 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Aicardi-Goutières Syndrome |
|
Eyelid coloboma, Ventriculomegaly, Ptosis |
ORPHA:51 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short stature, Hypoplasia of the pons, Mitral valve prolapse, Cerebell... |
OMIM:616202 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Sho... |
OMIM:619476 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Diastasis recti, Spina bifida, Hypoplasia of the iris, Chorioretina... |
ORPHA:2092 |
Cousin Syndrome |
|
Blepharophimosis, Hydrocephalus, Narrow palpebral fissure, Hydranencephaly, Microphthalmia, Short... |
OMIM:260660 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Epicanthus, Inguinal hernia, Microphthalmia, Downslanted palpebral fiss... |
OMIM:212720 |
Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Spina bifida, Sparse eyebrow, Optic disc coloboma, Chorioretinal coloboma, Micr... |
OMIM:234100 |
Monosomy 13Q14 |
|
Ptosis, Epicanthus, Holoprosencephaly, Microphthalmia, Retinoblastoma, Intrauterine growth retard... |
ORPHA:1587 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Downslanted palpebral fissures |
OMIM:619981 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Phimosis, Small cell lung carcinoma, Cryptorch... |
ORPHA:821 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine p... |
OMIM:617052 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus |
OMIM:617244 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Retinal coloboma |
OMIM:244300 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary artery morphology, Pulmonary h... |
ORPHA:2257 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Optic atrophy |
ORPHA:314404 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Epididym... |
OMIM:307200 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Bilateral microphthalmos, Lobar holoprosencephaly, Abn... |
ORPHA:468631 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Retinal detachment, Remnants of the hyaloid vasc... |
ORPHA:2714 |
Cat Eye Syndrome |
|
Epicanthus, Umbilical hernia, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures |
OMIM:115470 |
Gabriele-De Vries Syndrome |
|
Telecanthus, Sparse eyebrow, Epiblepharon, Lateral ventricle dilatation, Intrauterine growth reta... |
OMIM:617557 |
Incontinentia Pigmenti |
|
Retinal detachment, Abnormal chorioretinal morphology, Retinal vascular proliferation, Retinal he... |
ORPHA:464 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... |
ORPHA:2789 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Conductive hearing impairment, Myelomeningocele, Meningocele, Atresia of the extern... |
ORPHA:1393 |
Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology |
ORPHA:79139 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Unilateral narrow palpebral fissure, Optic atrophy |
OMIM:618727 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Spina bifida, Upslanted palpebral fissure, Microphthalmia, Dandy-Walker malform... |
ORPHA:99776 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Death in adolescence, Lateral ventricle dilatation, Intrauterine growth retarda... |
OMIM:619229 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Optic disc coloboma, Ankyloblepharon, Chorioretinal coloboma |
ORPHA:568 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma, Holoprosencephaly |
OMIM:184705 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Cryptococcosis |
|
Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Peritonitis, Neoplasm, Cirrhosis... |
ORPHA:1546 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Upslanted palpebral fissure, Intrauterine growth retardation, Lateral ventricle dilatation, Downs... |
OMIM:611209 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Ab... |
ORPHA:2556 |
Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Death in infancy, Hydrocephalus, Optic atrophy, Blepharophimosis, Mi... |
ORPHA:1106 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Short stature, Abnormal heart morphology, Growth delay, Molar tooth... |
ORPHA:2754 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Epicanthus, Ventriculomegaly, Optic atrophy, Upslanted palpebral fissure, Blepharophimosis, Micro... |
OMIM:616975 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Faundes-Banka Syndrome |
|
Epicanthus, Hypoplasia of the lower eyelids, Long palpebral fissure, Intrauterine growth retardat... |
OMIM:619376 |
3P25.3 Microdeletion Syndrome |
|
Epicanthus, Abnormal thalamus morphology, Blepharophimosis, Microphthalmia, Downslanted palpebral... |
ORPHA:435638 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum, Lacrimal duct atresia |
OMIM:300952 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Galloway-Mowat Syndrome 3 |
|
Epicanthus, Hiatus hernia, Microphthalmia, Downslanted palpebral fissures, Ventriculomegaly, Intr... |
OMIM:617729 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Noonan Syndrome 14 |
|
Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Lateral ventricle dilatation, Downslanted pal... |
OMIM:619745 |
Triploidy |
|
Low-set, posteriorly rotated ears, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... |
OMIM:133540 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia, Low-set ears |
OMIM:191830 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Posteriorly rotated ears, Hydrocephalus, Aplasia/Hypoplasia of ... |
ORPHA:3309 |
Trichothiodystrophy |
|
Epicanthus, Ectropion, Ventriculomegaly, Partial agenesis of the corpus callosum, Bilateral micro... |
ORPHA:33364 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia, Dandy-Walker malformat... |
OMIM:156610 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Increased circulating gonadotropin level, Blepharophimosis, M... |
OMIM:110100 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia |
ORPHA:158048 |
22Q11.2 Deletion Syndrome |
|
Ptosis, Telecanthus, Epicanthus, Aganglionic megacolon, Inguinal hernia, Spina bifida, Abnormal e... |
ORPHA:567 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven... |
ORPHA:1855 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Micr... |
OMIM:221900 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Abnormal eyelash morphology, Blepharophimosis, Microphthalmia, Downslanted palpebra... |
OMIM:206920 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Decreased response to growth hormone stimulation test, Severe intrauterine growth... |
OMIM:241410 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Epicanthus |
OMIM:618652 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Sparse eyebrow, Narrow palpebral fissure, Lateral ve... |
OMIM:619869 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Retinal vascular malfor... |
ORPHA:42775 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... |
OMIM:200995 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Adrenocortical carcinoma, Cryptorchidism, Exocrin... |
ORPHA:116 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Telecanthus, Gastroschisis, Abnormal cranial nerve morphology |
ORPHA:989 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration |
ORPHA:48818 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Hypotha... |
OMIM:206900 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Telecanthus, Partial agenesis of the corpus callosum, Upslanted palpebr... |
ORPHA:434179 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system |
OMIM:257910 |
Scalp-Ear-Nipple Syndrome |
|
Eyelid coloboma, Palpebral edema, Telecanthus |
ORPHA:2036 |
Fountain Syndrome |
|
Sensorineural hearing impairment, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... |
ORPHA:370997 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Optic atrophy |
OMIM:614225 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Pulmonary hypoplasia, Facial palsy, Low-set ears |
ORPHA:171430 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Posteriorly rotated ears, Large fleshy ears, Pulmonary hypoplasia, Low-set ears, Pleural effusion |
OMIM:616897 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Intrauterine growth retardation, Ectropion |
OMIM:616395 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Synophrys |
ORPHA:261272 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Death in childhood |
OMIM:619847 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal helix morphology, Spina bifida |
ORPHA:1120 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Recurrent pneumonia, Epididymitis, Bronchiectasis, Bronchiolitis obliteran... |
OMIM:300755 |
Cog5-Cdg |
|
Intrauterine growth retardation, Neurogenic bladder, Lateral ventricle dilatation |
ORPHA:263487 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Atelis Syndrome 2 |
|
Epicanthus, Remnants of the hyaloid vascular system, Vitreous hemorrhage, Microphthalmia, Dacryoc... |
OMIM:620185 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Ventriculomegaly, Sparse eyelashes, Sparse eyebrow, Microphthalmia, Downslanted palpebral fissure... |
OMIM:302960 |
Acro-Renal-Ocular Syndrome |
|
Epicanthus, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal colo... |
ORPHA:959 |
Ohdo Syndrome, X-Linked |
|
Epicanthus, Inguinal hernia, Hiatus hernia, Sparse eyebrow, Blepharophimosis, Microphthalmia, Dow... |
OMIM:300895 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Umbilical hernia, Meningocele, Spina bifida occulta |
ORPHA:2311 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, Atelectasis, H... |
OMIM:269860 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Congenital aphakia |
ORPHA:137675 |
Treacher Collins Syndrome 2 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:613717 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Epicanthus |
OMIM:618494 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Gastroschisis |
ORPHA:95427 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Hearing abnormality, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmo... |
ORPHA:2990 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Hypogonadism, Annular pancreas, Os... |
OMIM:268400 |
Fanconi Anemia |
|
Ptosis, Epicanthus, Ventriculomegaly, Aganglionic megacolon, Spina bifida, Abnormal eyelid morpho... |
ORPHA:84 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Intrauterine growth retardation, Blepharophimosis, Ptosis |
ORPHA:2728 |
Methanol Poisoning |
|
Hyperlipidemia, Abnormal optic nerve morphology |
ORPHA:31825 |
Microsporidiosis |
|
Pneumonia, Bronchitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gla... |
ORPHA:2552 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Highly arched eyebrow, Lagophth... |
OMIM:619539 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Delayed peripheral myelination, Synophrys, Thin eyebrow, Microphthalmia, Short palpe... |
ORPHA:364577 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Distal Triplication 15Q |
|
Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Microtia, Pulmonary hypoplasia, Abno... |
ORPHA:314588 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia |
OMIM:256050 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Hyperlipidemia, Increased ... |
ORPHA:77293 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Shawl scrotum, Hepatic steat... |
OMIM:616263 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:280365 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia, Low-set ears |
OMIM:312150 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:253310 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Anophthalmia, Diastasis recti, Hiatus hernia, Myelomeningocele, Hyd... |
OMIM:305600 |
Mosaic Variegated Aneuploidy Syndrome |
|
Epicanthus, Ventriculomegaly, Holoprosencephaly, Microphthalmia, Downslanted palpebral fissures, ... |
ORPHA:1052 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Retinal vascular proliferation, Optic atrophy, Retin... |
OMIM:308300 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Low-set ears |
ORPHA:85166 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Hydrocephalus, Meningocele, Low... |
OMIM:130720 |
Fryns Syndrome |
|
Omphalocele, Ventriculomegaly, Aganglionic megacolon, Microphthalmia, Agenesis of corpus callosum... |
ORPHA:2059 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia, Holoprosencephaly |
ORPHA:250999 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Orbital cyst, Spina bifida |
OMIM:109400 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology, Short stature |
ORPHA:2720 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... |
ORPHA:8 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Downslanted palpebral fissures |
OMIM:611961 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Umbili... |
OMIM:300166 |
Bohring-Opitz Syndrome |
|
Hyperechogenic pancreas, Supernumerary nipple, Facial hemangioma |
OMIM:605039 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Telecanthus, Sparse eyelashes, Microphthalmia, Downslanted palpebral fissures, Short ... |
OMIM:257850 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Anencephaly, Stillbirth, Severe hydrocephalus, Microphthalmia, Agenesis of corpus ca... |
OMIM:236680 |
Fetal Akinesia Deformation Sequence |
|
Posteriorly rotated ears, Pulmonary hypoplasia |
ORPHA:994 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Pulmonary hypoplasia |
ORPHA:1190 |
Mend Syndrome |
|
Telecanthus, Abnormal auditory evoked potentials, Hydrocephalus, Upslanted palpebral fissure, Mic... |
ORPHA:401973 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Pulmonary hypoplasia, Low-set ears |
OMIM:608022 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agen... |
OMIM:601186 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Downslanted palpebral fissures |
ORPHA:457279 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Epicanthus, Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpu... |
OMIM:270400 |
Amish Lethal Microcephaly |
|
Optic atrophy, Spina bifida |
ORPHA:99742 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Epicanthus, Lateral ventricle dilatation, Intrauterine growth retardation, Rod-cone dystrophy, Th... |
OMIM:300896 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hamartoma of tongue, Hepatic fibrosis, Pulmonary hypoplasia, Ambiguous genit... |
OMIM:263520 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia, Low-set ears |
OMIM:253290 |
Pallister-Hall Syndrome |
|
Decreased response to growth hormone stimulation test, Holoprosencephaly, Hypothalamic hamartoma,... |
OMIM:146510 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Neurogenic b... |
ORPHA:90324 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Patent urachus, Intrauterine growth retardation |
OMIM:192350 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Partial agenesis of the corpus... |
OMIM:210710 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Macular atrophy |
OMIM:619418 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Pulmonary hypoplasia, Low-set ears |
OMIM:617022 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Hepatomegaly, Myelodysplasia, Abnormality of the pancreas |
ORPHA:1318 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Gorham-Stout Disease |
|
Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Intrauterine growth retardation, Hydrocephalus, Upslanted palpebral fissure |
OMIM:614083 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Microphthalmia, Papilledema |
OMIM:127000 |
Trisomy 8P |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Abnormal lung lobation, Annular pan... |
ORPHA:264450 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Dysmetria, Gait ataxia, Pigmentary retinopathy, Dysdiadochokinesis, Hyperch... |
OMIM:606721 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Blepharophimosis, Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Holoprosencephaly, Chorioretin... |
OMIM:157170 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Micropenis, Leukemia |
OMIM:227646 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Almond-shap... |
ORPHA:177907 |
H Syndrome |
|
Hypertriglyceridemia |
ORPHA:168569 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Blepharophimosis, Microphthalmia, Downslanted palpebral fissures, Ptosis |
ORPHA:284160 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Difficulty walking, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Spina bifida, Protruding ear, Abnormal antihelix morphology, A... |
ORPHA:261318 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Epicanthus, Facial palsy, Sparse eyebrow, Optic disc coloboma, Lacrimal duct apla... |
OMIM:620186 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Downslanted palpebral fissures |
OMIM:614526 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Microphthalmia, Downslanted palpebral fissures, Sparse eyelashes |
ORPHA:35173 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Low-set ears, Sirenomelia |
ORPHA:1848 |
Necrotizing Enterocolitis |
|
Gastroschisis |
ORPHA:391673 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Dandy-Walker malformation |
OMIM:616920 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Disproportionate short-limb short s... |
OMIM:619479 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Ventriculomegaly, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Microphth... |
OMIM:616734 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Telecanthus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:2612 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Epiblepharon, Lateral ventricle dilatation, Short umbilical cord, Thick eyebrow |
OMIM:618367 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Epicanthus, Hydrocephalus, Optic disc coloboma, Optic atrophy, Synophrys, Upsl... |
OMIM:607872 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hepatocellular carcinoma, Pancreatitis |
OMIM:232220 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Pulmonary hypoplasia |
OMIM:145420 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse eyebrow, Bilateral ptosis, Synophrys, Colpocephaly, Downslanted palpebral fissures |
ORPHA:477993 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion |
OMIM:278730 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Hypoplasia of the iris, Peripap... |
OMIM:175780 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Optic disc coloboma, Pulmonary hypoplasia, Hearing im... |
ORPHA:2260 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Perip... |
ORPHA:191 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Epicanthus, Inguinal hernia, Ectopic posterior pituitary, Optic nerve hypoplasia,... |
ORPHA:508488 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:187600 |
Alagille Syndrome 1 |
|
Pigmentary retinopathy, Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia |
OMIM:118450 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Epicanthus, Optic nerve hypoplasia, Sparse eyebrow, Dysplastic corpus callosum, Optic atrophy, La... |
ORPHA:500150 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Nephronophthisis 2 |
|
Pulmonary hypoplasia |
OMIM:602088 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Streak ovary, Hypospadias, Nephroblastoma, Ependymoma, Recurrent pneumon... |
ORPHA:798 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Hypermyelinated retinal nerve fibers, Shallow orbits |
OMIM:601812 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Inguinal hernia, Chorioretinal dysplasia, Buphthalmos, Upslanted palpebral fiss... |
ORPHA:534 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Hypoplasia of the abdominal wall musculature, Hydrocephalus, Synophrys, Umbilic... |
OMIM:612289 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Congen... |
OMIM:610199 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Shallow orbits |
OMIM:617306 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Medulloblastoma, Annular pancreas, Cholelithiasis, Nephroblastoma |
ORPHA:97297 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:314390 |
Fryns Syndrome |
|
Omphalocele, Aganglionic megacolon, Narrow palpebral fissure, Stillbirth, Blepharophimosis, Micro... |
OMIM:229850 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Intrauterine growth retardation, Bilateral microphthalmos, Papilledema |
ORPHA:93325 |
Igg4-Related Kidney Disease |
|
Retroperitoneal fibrosis, Abnormal lung morphology, Abnormal mesentery morphology, Abnormality of... |
ORPHA:449395 |
Monosomy 9P |
|
Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Agenesis of corpus cal... |
ORPHA:261112 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Posteriorly rotated ears, Spina bifida |
OMIM:613776 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re... |
ORPHA:185 |
Familial Multiple Lipomatosis |
|
Chorioretinitis, Hyperlipidemia |
ORPHA:199276 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Low-set ears |
OMIM:151210 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Pulmonary hypoplasia |
OMIM:231680 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:958 |
Achondroplasia |
|
Conductive hearing impairment, Hydrocephalus, Recurrent otitis media, Pulmonary hypoplasia |
OMIM:100800 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Keratoconjunctivitis sicca, Death in infancy |
OMIM:601675 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Waardenburg Syndrome, Type 1 |
|
Congenital sensorineural hearing impairment, Myelomeningocele, Spina bifida |
OMIM:193500 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Inguinal hernia, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Umbilical hernia, Emphys... |
OMIM:613177 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Pancreatic fibrosis, Decreased response to growth hormone stimu... |
ORPHA:699 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia, Downslanted palpebral fissures |
ORPHA:251038 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary hypoplasia, Pulmonary sequestration |
ORPHA:2847 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Posteriorly rotated ears, Cupped ear, Large fleshy ears, Pulmonary hypoplasia, Low-set ears, Over... |
OMIM:614080 |
Charge Syndrome |
|
Omphalocele, Anophthalmia, Facial palsy, Decreased response to growth hormone stimulation test, G... |
OMIM:214800 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Shawl scrotum, Pancreatic aplasia |
ORPHA:261265 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Conjunctivitis, Microphthalmia, Distichiasis, Ectropion |
OMIM:153400 |
Raine Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Hydrocephalus, Pro... |
OMIM:259775 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
Keppen-Lubinsky Syndrome |
|
Shallow orbits, Lateral ventricle dilatation, Abnormally large globe |
OMIM:614098 |
Kabuki Syndrome 1 |
|
Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Hydrocephalus, Prominent eyelashes, Late... |
OMIM:147920 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Pituitary growth hormone cell adenoma, Hepatic cysts,... |
ORPHA:730 |
Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Pleuri... |
ORPHA:900 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Keratoconjunctivitis sicca |
ORPHA:1806 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Posteriorly rotated ears, Sensorineural hearing impairment, Pulmonary hypoplas... |
OMIM:214100 |
Genitopatellar Syndrome |
|
Pulmonary hypoplasia, Low-set ears, Hearing impairment |
ORPHA:85201 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Biliary hyperplas... |
ORPHA:731 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Highly arched eyebrow, Trichiasis, Nasolacrimal duct obstr... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Highly arched eyebrow, Trichiasis, Nasolacrimal duct obstr... |
ORPHA:353277 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the spleen, Hypothyroidism, Annu... |
ORPHA:1606 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Pituitary adenoma, Biliary atresia, Micropenis, Annular pancreas |
ORPHA:96149 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Pancreatic fibrosis, Macronodular cirrhosis, Exocrine pancreatic insufficiency |
OMIM:557000 |
Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia |
OMIM:259770 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Inguinal hernia, Pulmonary hypoplasia, Low-set ears, Co... |
OMIM:265000 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Pulmonary hypoplasia |
OMIM:616866 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Intrauterine growth retardation, Decreased response to growth hormone stimulation... |
OMIM:603467 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Hypertriglyceridemia, Retinal degeneration |
ORPHA:79474 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia, Low-set ears |
OMIM:618975 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Sensorineural hearing impairment, Prune belly, Pulmonary hypoplasia |
OMIM:619351 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Telecanthus, Highly arched eyebrow, Ptosis |
OMIM:272950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Optic atrophy, Bronchiectasis |
OMIM:619708 |
Gaucher Disease, Perinatal Lethal |
|
Microtia, Pulmonary hypoplasia, Low-set ears |
OMIM:608013 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Upslanted palpebral fissure, Death in infancy, Lateral ventricle dilatation |
OMIM:300868 |
Oculodentodigital Dysplasia |
|
Epicanthus, Neurogenic bladder, Blepharophimosis, Microphthalmia, Short palpebral fissure |
OMIM:164200 |
Pallister-Hall Syndrome |
|
Inguinal hernia, Hypopituitarism, Adrenocorticotropic hormone deficiency, Gonadotropin deficiency... |
ORPHA:672 |
Mosaic Trisomy 16 |
|
Abnormal ear morphology, Large placenta, Abnormal lung morphology, Pulmonary hypoplasia, Hearing ... |
ORPHA:1708 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Asplenia, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Abno... |
OMIM:265380 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Neu-Laxova Syndrome |
|
Macrotia, Pulmonary hypoplasia, Spina bifida |
ORPHA:2671 |
6Q Terminal Deletion Syndrome |
|
Colpocephaly, Short palpebral fissure, Highly arched eyebrow |
ORPHA:75857 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Abnormal midbrain morphology, Delayed puberty |
ORPHA:293987 |
Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
Branchiooculofacial Syndrome |
|
Ptosis, Telecanthus, Anophthalmia, Facial palsy, Nasolacrimal duct obstruction, Upslanted palpebr... |
OMIM:113620 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Repeated pneumothoraces, Atelectasis, Hydroce... |
ORPHA:536467 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Downslanted palpebral fissures |
ORPHA:65286 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas |
OMIM:618162 |
Wilson Disease |
|
Face of the giant panda sign |
OMIM:277900 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Epicanthus, Inguinal hernia, Antecubital pterygium, Popliteal pterygium, Blepharophimosis, Microp... |
OMIM:609945 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Optic atrophy, Prominent antihelix, Abnormal antihelix morphol... |
ORPHA:2886 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Intrauterine growth retardation, Epicanthus |
OMIM:227645 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Optic disc hypoplasia, Ataxia, Optic atrophy, Pigmentary retinopathy, Trunc... |
ORPHA:3455 |
Nail-Patella Syndrome |
|
Sensorineural hearing impairment, Spina bifida |
OMIM:161200 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Branchial fistula, Epicanthus, Inguinal hernia, Ventriculomegaly, ... |
OMIM:613406 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Microphthalmia, Holoprosencephaly |
ORPHA:3186 |
Lathosterolosis |
|
Meningocele, Hearing impairment |
ORPHA:46059 |
Esophageal Atresia |
|
Omphalocele, Recurrent respiratory infections, Bronchitis, Abnormality of the ear, Pulmonary hypo... |
ORPHA:1199 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Posteriorly rotated ears, Spina bifida, Cupped ear, Unilateral facial palsy, Low-set ears, Thicke... |
OMIM:619480 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:269700 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Degcags Syndrome |
|
Ptosis, Abnormal eyebrow morphology, Hiatus hernia, Abnormal eyelash morphology, Synophrys, Long ... |
OMIM:619488 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia, Lipemia retinalis |
OMIM:232200 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:614091 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Synophrys, Thin eyebrow, Microphthalmia, Short palpebral fissure, Intrauterine growt... |
OMIM:608670 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3027 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Mowat-Wilson Syndrome |
|
Ventriculomegaly, Aganglionic megacolon, Agenesis of corpus callosum, Chorioretinal coloboma, Mic... |
OMIM:235730 |
Congenital Myopathy 22B, Severe Fetal |
|
Pleural effusion, Pulmonary hypoplasia, Low-set ears |
OMIM:620369 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Truncal ataxia |
OMIM:264090 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia |
OMIM:608594 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyebrow, Sparse eyelashes, Unilateral microphthalmos |
OMIM:618874 |
Achondrogenesis, Type Ia |
|
Pulmonary hypoplasia, Low-set ears |
OMIM:200600 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Omphalocele, Abnormal lung lobation, Large fleshy ears, Pulmon... |
ORPHA:79328 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Orbital cyst, Microphthalmia, Anterior hypopituitarism, Ventricu... |
OMIM:607932 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Pulmonary hypoplasia |
OMIM:271520 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Respiratory infections in early life, Pulmonary hypoplasia |
ORPHA:96179 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Congenital Tracheomalacia |
|
Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Recurrent upp... |
ORPHA:95430 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Synophrys, Lacrimal duct atresia, Inguinal hernia |
OMIM:603457 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas |
ORPHA:488642 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Telecanthus |
ORPHA:1236 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Unilateral deafness, Meningocele |
ORPHA:1010 |
Yunis-Varon Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Bilateral microphthalmos, Upslanted palpebral fi... |
ORPHA:3472 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Abnormal autonomic nervous system ph... |
OMIM:601559 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Umbilical hernia, Pulmonary hypoplasia, Hearing impairment |
OMIM:308050 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Inguinal hernia, Anophthalmia |
ORPHA:2250 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Abnormal brainstem morphology, Birth length less than 3rd percentile, ... |
ORPHA:464311 |
Alkaptonuria |
|
Prostatitis |
ORPHA:56 |
Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de... |
ORPHA:220386 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Optic nerve hypoplasia, Optic disc coloboma, ... |
ORPHA:536471 |
Phocomelia, Schinzel Type |
|
Meningocele, Protruding ear |
ORPHA:2879 |
Hallermann-Streiff Syndrome |
|
Sparse eyebrow, Microphthalmia, Telecanthus, Sparse eyelashes |
ORPHA:2108 |
Atelosteogenesis Type Ii |
|
Pulmonary hypoplasia, Low-set ears |
ORPHA:56304 |
Meier-Gorlin Syndrome 7 |
|
Sensorineural hearing impairment, Microtia, Pulmonary hypoplasia, Low-set ears, Hearing impairment |
OMIM:617063 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... |
ORPHA:99050 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Microtia, third degree, Posteriorly rotated ears, Abnormality o... |
ORPHA:2753 |
Myhre Syndrome |
|
Narrow palpebral fissure, Blepharophimosis, Microphthalmia, Thick eyebrow, Intrauterine growth re... |
OMIM:139210 |
Feingold Syndrome 1 |
|
Asplenia, Annular pancreas, Polysplenia, Accessory spleen |
OMIM:164280 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Hiatus hernia |
ORPHA:2538 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypoplasia,... |
OMIM:620025 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Blepharophimosis |
OMIM:620005 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Meacham Syndrome |
|
Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary venous connection, P... |
OMIM:608978 |
Ogden Syndrome |
|
Inguinal hernia, Pulmonary artery stenosis, Protruding ear, Pulmonary hypoplasia, Low-set ears, R... |
OMIM:300855 |
Renpenning Syndrome 1 |
|
Epicanthus, Telecanthus, Upslanted palpebral fissure, Death in childhood, Microphthalmia, Sparse ... |
OMIM:309500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Upslanted pal... |
OMIM:619534 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microtia, Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears |
OMIM:617925 |
Holoprosencephaly 1 |
|
Microphthalmia, Ethmocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:236100 |
Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia, Short umbilical cord, Low-set ears |
OMIM:616503 |
Greenberg Dysplasia |
|
Large placenta, Abnormal lung lobation, Pulmonary hypoplasia, Low-set ears |
OMIM:215140 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia, Spontaneous conjunctival filtering bleb, Downslanted palpebral fissures |
OMIM:601552 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Hydrocephalus, Optic atrophy, Protruding ear, Recurrent otitis media, Macrotia, Hea... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Hydrocephalus, Optic atrophy, Protruding ear, Recurrent otitis media, Macrotia, Hea... |
ORPHA:363958 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Telecanthus, Epicanthus, Aganglionic megacolon, Highly arched eyebrow, Optic atrophy, Lateral ven... |
ORPHA:261552 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia, Low-set ears |
ORPHA:50945 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Spinal dysraphism, Low-set ears, Conductive hearing impairment, Hear... |
OMIM:114290 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pulmonary artery stenosis, Biliary atresia, Congenital hypothyroidism, Pancreatic aplasia, Aplasi... |
ORPHA:2255 |
Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Blepharospa... |
ORPHA:2388 |
Acrorenal-Mandibular Syndrome |
|
Posteriorly rotated ears, Pulmonary hypoplasia, Low-set ears |
OMIM:200980 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Posteriorly rotated ears, Diastasis recti, Large placenta, Pulmonary artery stenosis... |
ORPHA:96334 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia, Persistent cloaca |
ORPHA:1112 |
Fetal Akinesia Deformation Sequence 1 |
|
Posteriorly rotated ears, Hydrocephalus, Short umbilical cord, Low-set ears, Small placenta, Pulm... |
OMIM:208150 |
Penile Agenesis |
|
Bilateral lung agenesis, Cloacal abnormality, Posteriorly rotated ears, Pulmonary hypoplasia |
ORPHA:49 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Telecanthus, Aganglionic megacolon, Lateral ventricle dilatation, Retinal coloboma, Microphthalmi... |
ORPHA:261537 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Long lower eyelashes, ... |
OMIM:612474 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Osteogenesis Imperfecta |
|
Mixed hearing impairment, Inguinal hernia, Hydrocephalus, Noncommunicating hydrocephalus, Progres... |
ORPHA:666 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Colpocephaly, Downslanted palpebral fissures |
OMIM:606170 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonary hypoplasia, Pulm... |
ORPHA:980 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Pulmonary hypoplasia, Low-set ears |
ORPHA:83617 |
Townes-Brocks Syndrome |
|
Blepharophimosis, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Agenesis of corpus call... |
ORPHA:857 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Pulmonary hypoplasia |
OMIM:236700 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida, Hearing impairment, Low-set ears, Spina bifida occulta, Simple ear |
OMIM:180849 |
Roberts Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation |
ORPHA:3103 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma... |
ORPHA:3384 |
Dpagt1-Cdg |
|
Diffuse optic disc pallor, Optic atrophy, Pulmonary hypoplasia, Hearing impairment |
ORPHA:86309 |
Distal Deletion 15Q |
|
Pulmonary hypoplasia, Low-set ears, Hearing impairment |
ORPHA:1596 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida |
OMIM:274000 |
Tetrasomy 9P |
|
Glue ear, Hydrocephalus, Abnormal earlobe morphology, Pulmonary hypoplasia, Umbilical hernia |
ORPHA:3310 |
Alström Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... |
ORPHA:64 |
Mowat-Wilson Syndrome |
|
Telecanthus, Ventriculomegaly, Aganglionic megacolon, Retinal coloboma, Horizontal eyebrow, Micro... |
ORPHA:2152 |
Restrictive Dermopathy |
|
Large placenta, Pulmonary hypoplasia, Low-set ears, Short umbilical cord, Small placenta |
ORPHA:1662 |
Restrictive Dermopathy 1 |
|
Pulmonary hypoplasia, Hydropic placenta, Short umbilical cord, Low-set ears |
OMIM:275210 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Ventriculomegaly |
OMIM:309000 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia |
OMIM:241080 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Aganglionic megacolon, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia,... |
OMIM:309800 |
Otopalatodigital Syndrome, Type Ii |
|
Posteriorly rotated ears, Spina bifida, Hydrocephalus, Low-set ears, Conductive hearing impairmen... |
OMIM:304120 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Ulbright-Hodes Syndrome |
|
Pneumothorax, Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears |
ORPHA:3404 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia |
ORPHA:3464 |
Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia, Patent urachus |
OMIM:618280 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Abnormal pinna morphology, Long ear, Low-set ears |
OMIM:276820 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Pulmonary hypoplasia |
ORPHA:93271 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy |
ORPHA:391665 |
Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Posteriorly rotated ears, Pulmonary hypoplasia, Low-set ears, Umbil... |
OMIM:601803 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Supracardiac total anomalous pulmona... |
ORPHA:99125 |