Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Edema, Intrauterine growth retardation, Cerebellar hypoplasia |
OMIM:616570 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
Gómez-López-Hernández Syndrome |
|
Brachycephaly, Turricephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Short... |
ORPHA:1532 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbital encephalocele |
OMIM:164180 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia, Occipital encephalocele |
OMIM:613885 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Cerebellar hypoplasia, Craniosynostosis, Arrhinencephaly, Hydrocephalus, F... |
ORPHA:1528 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Microphthalmia, ... |
OMIM:611134 |
Gombo Syndrome |
|
Delayed puberty, Microphthalmia |
OMIM:233270 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Craniosynostosis, Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia,... |
OMIM:218670 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of the skin, Short stature, Pallor |
ORPHA:2786 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Joubert Syndrome 22 |
|
Microphthalmia, Molar tooth sign on MRI, Agenesis of cerebellar vermis, Intrauterine growth retar... |
OMIM:615665 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Cerebellar hypoplasia, Hypoplasia of the pons, Microphthalmia, Cerebellar atrophy,... |
OMIM:616171 |
Joubert Syndrome 10 |
|
Growth delay, Frontal bossing, Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly, Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Hypoplasia of the pons, Abnormal midbrain morphology, Rhombencephalosyna... |
ORPHA:280195 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Short stature, Frontal bossing |
ORPHA:166024 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormal calvaria morphology |
ORPHA:2432 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Trisomy 13 |
|
Hydrops fetalis, Anophthalmia, Chiari malformation, Aplasia/Hypoplasia of the iris, Microphthalmi... |
ORPHA:3378 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Hydrolethalus |
|
Polyhydramnios, Anophthalmia, Anencephaly, Arrhinencephaly, Hydrocephalus, Microphthalmia |
ORPHA:2189 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Brachycephaly, Encephalocele, Coronal craniosynostosis, Oligohydramnios, Frontal bossing, Microph... |
ORPHA:228390 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Cerebellar malformation, Microphthalmia |
ORPHA:324416 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar cyst, Hydroc... |
OMIM:615181 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Anophthalmia |
ORPHA:411986 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Microphthalmia, Cerebellar vermis hypoplasia |
OMIM:615771 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Anencephaly, Frontal bo... |
OMIM:614175 |
Lissencephaly 8 |
|
Retrocerebellar cyst, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microphthalmia, Occipit... |
OMIM:617255 |
Retinitis Pigmentosa 27 |
|
Macular edema, Pallor |
OMIM:613750 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Arrhinencephaly, Occipital encephalocele, Agenesis of cerebellar vermis,... |
OMIM:614815 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Micropht... |
OMIM:613155 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia |
ORPHA:1104 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Microphthalmia, Craniosynostosis, Intrauterine growth ret... |
ORPHA:2117 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Multiple cafe-au-lait spots, Intrauterine growth retardation, Postnatal growth re... |
OMIM:609054 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Trisomy 1Q |
|
Polyhydramnios, Hydrops fetalis, Anophthalmia, Cerebellar hypoplasia, Hydrocephalus, Frontal boss... |
ORPHA:261344 |
Joubert Syndrome 14 |
|
Meningocele, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Hydrocephalus, ... |
OMIM:614424 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia, Cerebellar hypoplasia |
OMIM:614830 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Cofs Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Intrauterine growth retardation, Short stature |
ORPHA:1466 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar cyst, Hydroc... |
OMIM:613153 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Vacterl With Hydrocephalus |
|
Polyhydramnios, Anophthalmia, Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, ... |
ORPHA:3412 |
Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Elongated superior cerebella... |
OMIM:608091 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno... |
ORPHA:370959 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Microphthalmia, Short stature, Cerebellar hypoplasia |
OMIM:251270 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Brachycephaly, Optic nerve hypoplasia, Spina bifida occulta, Hypoplasia of the pons, Flat occiput... |
OMIM:618736 |
Fanconi Anemia, Complementation Group I |
|
Cafe-au-lait spot, Chiari malformation, Short stature, Optic nerve hypoplasia, Pallor, Microphtha... |
OMIM:609053 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Molar tooth sign on MRI |
OMIM:614120 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Short stature, Frontal bossing, Microphthalmia, Cerebellar vermis hypopl... |
OMIM:619185 |
Cerebrooculonasal Syndrome |
|
Brachycephaly, Encephalocele, Anophthalmia, Proboscis, Postnatal growth retardation, Hydrocephalu... |
OMIM:605627 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin, Pallor |
ORPHA:75563 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Slc35A2-Cdg |
|
Hypopigmentation of the skin, Short stature, Atrophy/Degeneration affecting the brainstem, Abnorm... |
ORPHA:356961 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Brachycephaly, Abnormality of skin pigmentation, Cutis laxa, Microphthalmia, Dry skin, Cerebellar... |
OMIM:612379 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Oligohydramnios, Pallor |
ORPHA:163596 |
Congenital Toxoplasmosis |
|
Microphthalmia, Ascites, Hydrocephalus, Intrauterine growth retardation |
ORPHA:858 |
Pierpont Syndrome |
|
Microphthalmia, Brachycephaly, Excessive wrinkling of palmar skin, Chiari malformation |
ORPHA:487825 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Multiple cafe-au-lait spots, Microphthalmia |
OMIM:614082 |
Biemond Syndrome Type 2 |
|
Delayed puberty, Hydrocephalus, Microphthalmia, Short stature |
ORPHA:141333 |
Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... |
OMIM:609583 |
Cerebrooculonasal Syndrome |
|
Brachycephaly, Anophthalmia |
ORPHA:66625 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Frontal bossing |
OMIM:617757 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Growth delay |
ORPHA:77298 |
Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
Pierpont Syndrome |
|
Brachycephaly, Chiari malformation, Short stature, Midface retrusion, Microphthalmia |
OMIM:602342 |
Joubert Syndrome 7 |
|
Brainstem dysplasia, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI |
OMIM:611560 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
Joubert Syndrome 21 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Anophthalmia, Elongated superior cerebellar... |
OMIM:615636 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Cockayne Syndrome Type 2 |
|
Hypermelanotic macule, Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Microphthalmia, Intrauterine growth retardation, Dandy-W... |
OMIM:603194 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Short stature |
OMIM:147250 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Cerebellar hypoplasia, Hydrocephalus, Frontal bossing, Microphthalmia,... |
ORPHA:163966 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Frontal bossing, Microphthalmia, Growth delay, Postnatal growth retardation |
OMIM:206920 |
Seckel Syndrome 2 |
|
Short stature, Cerebellar hypoplasia, Growth delay, Microphthalmia, Few cafe-au-lait spots |
OMIM:606744 |
Walker-Warburg Syndrome |
|
Anophthalmia, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus, Microp... |
ORPHA:899 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Brachyturricephaly, Hyperpigmented nevi, Frontal bossing, Optic nerve hy... |
OMIM:607597 |
Cat-Eye Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature |
ORPHA:195 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
Craniosynostosis 6 |
|
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Right unilambdoid synostosis, Spin... |
OMIM:616602 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor |
OMIM:613561 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:617127 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Frontal bossing, Microphthalmia, Intrauterine growth re... |
OMIM:300863 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on MRI, Dandy-Walker malforma... |
OMIM:617622 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Anophthalmia |
ORPHA:139471 |
Frontonasal Dysplasia 2 |
|
Brachycephaly, Parietal foramina, Encephalocele, Craniosynostosis, Oligohydramnios, Microphthalmi... |
OMIM:613451 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Duplication Of The Pituitary Gland |
|
Polyhydramnios, Encephalocele, Brachyturricephaly, Short stature, Midface retrusion, Abnormal mid... |
ORPHA:314621 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degenerati... |
ORPHA:77299 |
Bresek Syndrome |
|
Plagiocephaly, Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Growth delay, Intrauterine ... |
ORPHA:85284 |
Linear Nevus Sebaceus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Irregular hyperpigmentation, Melanocytic nevus, Plagiocepha... |
ORPHA:2612 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Platybasia, Frontal bossing, Cloverleaf skull, Microphthalmia |
ORPHA:93267 |
Coach Syndrome 2 |
|
Hydrocephalus, Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619111 |
Al-Gazali-Bakalinova Syndrome |
|
Frontal bossing, Molar tooth sign on MRI, Lymphedema |
OMIM:607131 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Warburg Micro Syndrome 1 |
|
Cerebellar hypoplasia, Microphthalmia, Short stature, Cerebellar vermis hypoplasia |
OMIM:600118 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Matthew-Wood Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia |
ORPHA:2470 |
Microphthalmia, Isolated 5 |
|
Cystoid macular edema, Microphthalmia |
OMIM:611040 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Anophthalmia, Dolichocephaly, Umbilical hernia, Aniridia |
ORPHA:1101 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Cerebellar hypopl... |
OMIM:619306 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Crouzon Syndrome |
|
Brachycephaly, Melanocytic nevus, Chiari malformation, Turricephaly, Cerebellar hypoplasia, Hydro... |
ORPHA:207 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature |
ORPHA:48431 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Melanocytic nevus, Hydrocephalus, Midface retrusion, Craniosynostosis |
OMIM:612247 |
Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:3469 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Cerebellar hypoplasia, Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia, In... |
OMIM:617914 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Frontal bossing |
OMIM:617120 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Biparietal narrowing, Cerebellar vermis hy... |
ORPHA:2318 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature |
OMIM:300915 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Plagiocephaly, Microphthalmia |
OMIM:308350 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Polyhydramnios, Microphthalmia, Frontal bossing |
ORPHA:2547 |
Holoprosencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Branchial anomaly, Anopht... |
ORPHA:2162 |
Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Plagiocephaly, Molar tooth sign on MRI, Elongated superior cerebella... |
OMIM:213300 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Biparietal narrowing, Cerebellar vermis hy... |
ORPHA:220497 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature |
OMIM:610023 |
Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Abnormal cerebellum morphology... |
ORPHA:397715 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Monosomy 18P |
|
Brachycephaly, Short stature, Lymphedema, Holoprosencephaly, Microphthalmia |
ORPHA:1598 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Lymphedema, Skin ulcer, Pleural effusion, Scaling skin, Edema, Severe short stature... |
ORPHA:2526 |
Frontofacionasal Dysplasia |
|
Brachycephaly, Encephalocele, Short stature, Midface retrusion, Microphthalmia |
ORPHA:1791 |
Coach Syndrome 1 |
|
Encephalocele, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis, Growth delay... |
OMIM:216360 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superio... |
OMIM:610688 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Irregular hyperpigmentation, Short stature, Edema, Microphthalmia, Umbilical hernia |
ORPHA:2505 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Anencephaly, Hydrocephalus, Lobar ho... |
ORPHA:564 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Biparietal narrowing, Cerebellar vermis hy... |
ORPHA:220493 |
Adams-Oliver Syndrome 2 |
|
Retrocerebellar cyst, Cerebellar hypoplasia, Hydrocephalus, Oligohydramnios, Microphthalmia |
OMIM:614219 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebell... |
OMIM:613150 |
Fibular Hemimelia |
|
Spina bifida, Craniosynostosis, Anophthalmia |
ORPHA:93323 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Frontal bossing |
ORPHA:1438 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal midbrain morphology, Abnormal medulla oblongata morphology |
ORPHA:206448 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Molar tooth sign on MRI, Rhizomelia, Cerebellar hypoplasia, Midface retrusion, Uni... |
OMIM:616300 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Abnormal brainstem morphology, Hydrocephalus, Frontal bossing, Agenesis of cerebellar vermis, Dan... |
ORPHA:163961 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Microphthalmia |
OMIM:136760 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Short stature, Trigonocephaly |
OMIM:614583 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Microp... |
OMIM:615249 |
Pontocerebellar Hypoplasia Type 10 |
|
Growth delay, Abnormal brainstem morphology |
ORPHA:411493 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Midface retrusion, Microphthalmia |
ORPHA:1135 |
Temtamy Syndrome |
|
Dolichocephaly, Microphthalmia |
ORPHA:1777 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Cerebellar ... |
OMIM:616546 |
Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling, Microphthalmia |
OMIM:601349 |
Microgastria-Limb Reduction Defect Syndrome |
|
Plagiocephaly, Anophthalmia, Arrhinencephaly, Frontal bossing, Microphthalmia, Growth delay |
ORPHA:2538 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:608629 |
Craniofacial Dyssynostosis With Short Stature |
|
Brachycephaly, Brachyturricephaly, Short stature, Hydrocephalus, Midface retrusion, Frontal bossi... |
OMIM:218350 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Microphthalmia |
OMIM:611561 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Cafe-au-lait spot, Growth delay, Pallor |
OMIM:615234 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the brainstem, Infancy onset short-trunk short stature, Cerebellar hypoplasia, Infe... |
ORPHA:444072 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis, Intrauterine growth retardation, Pallor |
OMIM:266200 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Occipital encephalocele, Craniosynostosis |
OMIM:614416 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Short stature |
ORPHA:290 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of skin pigmentation, Anophthalmia, Hydrocephalus, Midface retrusion, Hypopigmented s... |
ORPHA:2556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Alg3-Cdg |
|
Hypoplasia of the pons, Hypopigmentation of the skin, Dandy-Walker malformation, Neural tube defect |
ORPHA:79321 |
Heart And Brain Malformation Syndrome |
|
Polyhydramnios, Prominent occiput, Microphthalmia, Growth delay, Dandy-Walker malformation, Cereb... |
OMIM:616920 |
Galloway-Mowat Syndrome 1 |
|
Hypopigmentation of the skin, Hypoplasia of the brainstem, Short stature, Hypoplasia of the iris,... |
OMIM:251300 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Cerebral edema, Pallor |
ORPHA:439218 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Microphthalmia, Cerebellar atrophy, Mild short stature |
OMIM:614833 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Short stature, Optic nerve aplasia, Frontal bossing, Optic nerve hypoplasia, Microp... |
OMIM:206900 |
Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Intrauterine growth retardation, Short stature, Anophthalmia |
OMIM:601186 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Hypoplasia of the retina, Hypoplasia of the brainstem, Cerebellar hypoplasi... |
OMIM:253280 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... |
ORPHA:137902 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:602501 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Dehydration, Microphthalmia, Cerebellar hypoplasia |
OMIM:214150 |
American Trypanosomiasis |
|
Edema, Periorbital edema, Pallor |
ORPHA:3386 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Optic nerve hyp... |
OMIM:614643 |
Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Microphthalmia, Intrauterine growth retardation, Postnatal growth retardation, C... |
ORPHA:494344 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Cerebellar hypoplasia |
OMIM:613839 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Pallor |
ORPHA:3226 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Short stature, Frontal bossing |
ORPHA:2788 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Abnormal cerebellum morphology, Redundant neck skin |
OMIM:618652 |
Achondrogenesis, Type Ii |
|
Brachycephaly, Polyhydramnios, Abnormally large globe, Hydrops fetalis, Frontal bossing, Edema, D... |
OMIM:200610 |
Cockayne Syndrome Type 1 |
|
Hypermelanotic macule, Anophthalmia, Postnatal growth retardation |
ORPHA:90321 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Marden-Walker Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Microp... |
OMIM:248700 |
Frontonasal Dysplasia 3 |
|
Brachycephaly, Microphthalmia |
OMIM:613456 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Intrauterine growth retardation, Growth delay |
OMIM:610756 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:613730 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Cerebellar hypoplasia, Dolichocephaly, Frontal bossing, Holoprosencephaly, Microph... |
OMIM:612530 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Oligohydramnios, Microphthalmia, Craniosynostosis, Intrauterine growth retar... |
OMIM:251230 |
Galloway-Mowat Syndrome 3 |
|
Short stature, Midface retrusion, Oligohydramnios, Frontal bossing, Edema, Microphthalmia, Cerebe... |
OMIM:617729 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Trigonocephaly |
OMIM:618804 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Hydrocephalus, Midface retrusion, Optic nerve hypoplasia, Holoprosen... |
OMIM:610829 |
Charge Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Polyhydramnios, Anophthalmia, Aqueductal stenosis, Short st... |
ORPHA:138 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Brachycephaly, Cafe-au-lait spot, Encephalocele, Short stature, Anencephaly, Microphthalmia, Trig... |
OMIM:619148 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Hydrops fetalis, Spina bifida, Biparietal narrowing, Prominent occiput, Oligohydr... |
ORPHA:99776 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Flat occiput, Microphthalmia, Lymphedema |
OMIM:152950 |
Leishmaniasis |
|
Skin ulcer, Pallor |
ORPHA:507 |
Fumarase Deficiency |
|
Frontal bossing, Hypoplasia of the brainstem, Pallor |
OMIM:606812 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Brachycephaly, Plagiocephaly, Short stature, Midface retrusion, Bilateral microphthalmos, Umbilic... |
ORPHA:369891 |
Warburg Micro Syndrome 4 |
|
Brachycephaly, Short stature, Microphthalmia, Cerebellar atrophy, Severe postnatal growth retarda... |
OMIM:615663 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Stevenson-Carey Syndrome |
|
Brachycephaly, Microphthalmia, Cerebellar hypoplasia |
OMIM:611961 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Growth delay, Pallor |
OMIM:600462 |
Baraitser-Winter Syndrome 1 |
|
Short stature, Midface retrusion, Microphthalmia, Trigonocephaly, Postnatal growth retardation |
OMIM:243310 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Chiari malformation, Molar tooth sign on MRI, Cerebellar hypoplasia, An... |
OMIM:249000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Kinked brainstem, Cerebellar dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cereb... |
OMIM:236670 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Microphthalmia, Anterior plagiocephaly, Frontal bossing |
ORPHA:163649 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619562 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Polyhydramnios, Abnormality of skin pigmentation, Short sta... |
ORPHA:1052 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:618805 |
Trisomy 18 |
|
Chiari malformation, Short stature, Spina bifida, Anencephaly, Dolichocephaly, Prominent occiput,... |
ORPHA:3380 |
Amoebiasis Due To Free-Living Amoebae |
|
Cerebral edema, Abnormal cerebellum morphology, Abnormal brainstem MRI signal intensity, Skin ulc... |
ORPHA:68 |
Holoprosencephaly 7 |
|
Hypoplasia of the brainstem, Hydrocephalus, Midface retrusion, Semilobar holoprosencephaly, Lobar... |
OMIM:610828 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Biparietal narrowing, Intrauterine growth retardation, Short stature |
ORPHA:1915 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus... |
OMIM:253800 |
Evans Syndrome |
|
Petechiae, Pallor |
ORPHA:1959 |
Curry-Jones Syndrome |
|
Lipomyelomeningocele, Unicoronal synostosis, Microphthalmia, Chiari type I malformation, Bicorona... |
OMIM:601707 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Trigonocephaly |
OMIM:616395 |
Beta-Thalassemia |
|
Skin ulcer, Pallor |
ORPHA:848 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
Focal Dermal Hypoplasia |
|
Hypopigmentation of the skin, Linear hyperpigmentation, Myelomeningocele, Chiari malformation, An... |
OMIM:305600 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Skin ulcer, Microphthalmia, Short stature |
ORPHA:1806 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Lymphedema |
ORPHA:79279 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida occulta, Microphthalmia, Short stature |
OMIM:169550 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
14Q22Q23 Microdeletion Syndrome |
|
Brachycephaly, Optic nerve aplasia, Anophthalmia, Short stature |
ORPHA:264200 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Cerebellar malformation, Hydrocephalus, Pallor, Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Short stature, Pallor, Hypoplasia of the fovea, Microphthalmia,... |
OMIM:308300 |
Fanconi Anemia, Complementation Group C |
|
Cafe-au-lait spot, Short stature, Microphthalmia, Anemic pallor, Hyperpigmentation of the skin, I... |
OMIM:227645 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Primary Myelofibrosis |
|
Ecchymosis, Purpura, Petechiae, Pallor |
ORPHA:824 |
Dominant Beta-Thalassemia |
|
Skin ulcer, Frontal bossing, Pallor, Delayed puberty, Growth delay, Hyperpigmentation of the skin |
ORPHA:231226 |
Japanese Encephalitis |
|
Cerebral edema, Abnormal substantia nigra morphology, Pulmonary edema, Abnormal midbrain morpholo... |
ORPHA:79139 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Rhizomelia, Anophthalmia |
OMIM:615877 |
Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Microphthalmia, Ascites, Aniridia |
OMIM:602361 |
17Q12 Microduplication Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:261272 |
Fanconi Anemia, Complementation Group E |
|
Cafe-au-lait spot, Short stature, Microphthalmia, Anemic pallor, Hyperpigmentation of the skin |
OMIM:600901 |
Hallermann-Streiff Syndrome |
|
Brachycephaly, Scaphocephaly, Spina bifida, Dolichocephaly, Frontal bossing, Platybasia, Parietal... |
OMIM:234100 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Microphthalmia, Calvarial skull defect, Ascites |
ORPHA:974 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Oligohydramnios, Increased nuchal translucency, Microphthalmia, Cerebellar vermis hypoplasia |
OMIM:618494 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal brainstem morphology, Cerebellar cyst, Buphthalmos, Abnormal pons morphology, Cerebellar... |
ORPHA:370997 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Short stature, Inferior cerebellar vermis hypoplasia, Frontal bossing, C... |
OMIM:619476 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
Spondylo-Ocular Syndrome |
|
Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microphthalmia, Short... |
ORPHA:85194 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Frontal bossing |
OMIM:617306 |
Micro Syndrome |
|
Abnormal cerebellum morphology, Short stature, Delayed puberty, Microphthalmia, Intrauterine grow... |
ORPHA:2510 |
Fanconi Anemia, Complementation Group A |
|
Abnormality of skin pigmentation, Cafe-au-lait spot, Short stature, Microphthalmia, Anemic pallor |
OMIM:227650 |
Arima Syndrome |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplas... |
OMIM:243910 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Curry-Jones Syndrome |
|
Craniosynostosis, Microphthalmia, Hypopigmented skin patches |
ORPHA:1553 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Short stature |
OMIM:619318 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short stature, Inferior cerebellar vermis hypoplasia, Dolichocephaly, Frontal bossing, Microphtha... |
OMIM:618571 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Umbilical hernia, Lens coloboma |
OMIM:618914 |
Meckel Syndrome 14 |
|
Oligohydramnios, Holoprosencephaly, Decreased calvarial ossification, Microphthalmia, Occipital e... |
OMIM:619879 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Cerebellar hypoplasia, Hypoplasia of the iris, Hydrocephalus, Microphth... |
OMIM:613001 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Prominent occiput |
OMIM:619339 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Dolichocephaly, Microphthalmia |
OMIM:167730 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Rhizomelia, Frontal bossing, Edema, Microphthalmia, Dandy-Walker malformation, Po... |
OMIM:302960 |
Beta-Thalassemia Major |
|
Skin ulcer, Frontal bossing, Pallor, Delayed puberty, Growth delay, Hyperpigmentation of the skin |
ORPHA:231214 |
Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Cafe-au-lait spot, Short stature, Microphthalmia, Hyperpigmentation of the skin, ... |
OMIM:603467 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Fraser Syndrome 1 |
|
Myelomeningocele, Encephalocele, Anophthalmia, Hydrocephalus, Bilateral microphthalmos, Calvarial... |
OMIM:219000 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Frontal bossing, Microphthalmia, Postnatal growth retardation, Severe intrauterine growth retarda... |
OMIM:241410 |
Posterior Meningocele |
|
Meningocele, Chiari malformation, Neural tube defect, Occipital meningocele, Hydromyelia, Hydroce... |
ORPHA:268810 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Frontal bossing |
OMIM:614105 |
Beta-Ketothiolase Deficiency |
|
Dehydration, Edema, Pallor |
ORPHA:134 |
Waldenström Macroglobulinemia |
|
Pedal edema, Purpura, Pallor, Pleural effusion, Periorbital edema |
ORPHA:33226 |
Microphthalmia With Limb Anomalies |
|
Short stature, Arrhinencephaly, Hydrocephalus, Frontal bossing, True anophthalmia, Microphthalmia |
ORPHA:1106 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Cafe-au-lait spot, Growth delay, Pallor |
ORPHA:300298 |
Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI, Short stature, Biparietal narrowing, Frontal bossing, Growth delay, Cere... |
ORPHA:2754 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecti... |
ORPHA:98755 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar cyst, Hydrocephalus, Buphthalmos, Microphthalmia, Cerebellar vermis hypoplasia |
OMIM:616538 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Short stature, Arrhinencephaly, Occipital meningocele, Cerebellar vermis... |
OMIM:277170 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Short stature |
ORPHA:3191 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Intrauterine growth retardation, Short stature, Cerebellar hypoplasia |
OMIM:610758 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Fraser Syndrome |
|
Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia, Calvarial skull defect, Umbilical ... |
ORPHA:2052 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Temtamy Syndrome |
|
Microphthalmia, Frontal bossing |
OMIM:218340 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Cranial asymmetry, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Frontal bossing, Scaling skin, Microphthalmia, Severe postnatal growth retardation |
ORPHA:35173 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis, Occipital encephalocele, Ag... |
OMIM:610188 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Polyhydramnios, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Microphth... |
ORPHA:2166 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Sepsis In Premature Infants |
|
Edema, Purpura, Petechiae, Pallor |
ORPHA:90051 |
Incontinentia Pigmenti |
|
Irregular hyperpigmentation, Abnormality of skin pigmentation, Short stature, Skin ulcer, Hypopig... |
ORPHA:464 |
Myoclonic-Astatic Epilepsy |
|
Premature skin wrinkling, Microphthalmia |
ORPHA:1942 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Freckling, Microphthalmia, Short stature |
OMIM:610651 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Moebius Syndrome |
|
Hypoplasia of the brainstem, Microphthalmia |
OMIM:157900 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:98375 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Frontal bossing |
OMIM:615085 |
Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal brainstem morphology, Cerebellar vermis hypoplasia |
ORPHA:467166 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Frontorhiny |
|
Basal encephalocele, Encephalocele, Cranium bifidum occultum, Microphthalmia |
ORPHA:391474 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Warburg Micro Syndrome 3 |
|
Brachycephaly, Microphthalmia, Postnatal growth retardation |
OMIM:614222 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Severe postnatal growth retardation, Bilateral microphthalmos, Dolichocephaly, Microphthalmia |
ORPHA:2399 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Microphthalmia, Syndromic 6 |
|
Brachycephaly, Plagiocephaly, Anophthalmia, Cerebellar hypoplasia, Inferior cerebellar vermis hyp... |
OMIM:607932 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Short stature, Generalized h... |
ORPHA:2720 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Familial Exudative Vitreoretinopathy |
|
Lymphedema, Microphthalmia, Macular edema |
ORPHA:891 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Oligohydramnios |
OMIM:619053 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Microphthalmia |
OMIM:264480 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Short stature, Dandy-Walker malformation, Microphthalmia, Phthisis bulbi, Umbilical... |
OMIM:300166 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Proboscis Lateralis |
|
Anophthalmia, Proboscis, Optic nerve hypoplasia, Holoprosencephaly, Microphthalmia |
ORPHA:141099 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Fanconi Anemia, Complementation Group D2 |
|
Abnormality of skin pigmentation, Cafe-au-lait spot, Short stature, Hydrocephalus, Microphthalmia... |
OMIM:227646 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dehydration, Edema, Pallor |
ORPHA:20 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Pelvis-Shoulder Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydrocephalus, Hydranencephaly... |
ORPHA:2839 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Brachycephaly, Cerebellar vermis atrophy, Microphthalmia, Dandy-Walker malformation |
OMIM:156610 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Edema, Growth delay |
ORPHA:329971 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Brachycephaly, Microphthalmia |
ORPHA:404440 |
Mosaic Trisomy 1 |
|
Polyhydramnios, Cerebellar hypoplasia, Frontal bossing, Microphthalmia, Increased nuchal transluc... |
ORPHA:1692 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature |
OMIM:617883 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Refsum Disease |
|
Dry skin, Microphthalmia |
ORPHA:773 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Midface retrusion, Microphthalmia, Frontal bossing |
OMIM:620098 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Branchial anomaly, Dolichocephaly, Microphthalmia, Agenesis of cerebellar vermis, I... |
OMIM:113620 |
Degcags Syndrome |
|
Polyhydramnios, Hypopigmentation of the skin, Abnormality of skin pigmentation, Plagiocephaly, Pa... |
OMIM:619488 |
Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
Monosomy 9Q22.3 |
|
Chiari malformation, Hydrocephalus, Microphthalmia, Trigonocephaly, Umbilical hernia |
ORPHA:77301 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Postnatal growth retardation, Cerebellar vermis hypoplasia |
OMIM:619135 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Warburg Micro Syndrome 2 |
|
Brachycephaly, Microphthalmia, Postnatal growth retardation |
OMIM:614225 |
Fanconi Anemia |
|
Irregular hyperpigmentation, Abnormality of skin pigmentation, Short stature, Spina bifida, Aplas... |
ORPHA:84 |
Fontaine Progeroid Syndrome |
|
Brachycephaly, Turricephaly, Short stature, Cerebellar hypoplasia, Dermal translucency, Coronal c... |
OMIM:612289 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Intrauterine growth retardation, Postnatal growth retardation |
ORPHA:2728 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon, Absent mesencephalon, Craniosy... |
OMIM:601374 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Brachycephaly, Microphthalmia, Short stature, Frontal bossing |
OMIM:257850 |
Fanconi Anemia, Complementation Group L |
|
Cafe-au-lait spot, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Growth delay, Intrauteri... |
OMIM:614083 |
Focal Dermal Hypoplasia |
|
Abnormality of skin pigmentation, Spina bifida, Hypoplasia of the iris, Microphthalmia, Erythema,... |
ORPHA:2092 |
Trichothiodystrophy 1, Photosensitive |
|
Freckling, Dry skin, Microphthalmia, Short stature |
OMIM:601675 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Hereditary Spherocytosis |
|
Skin ulcer, Growth delay, Pallor |
ORPHA:822 |
Frontofacionasal Dysplasia |
|
Brachycephaly, Hypoplasia of the frontal bone, Cranium bifidum occultum, Midface retrusion, Micro... |
OMIM:229400 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Cafe-au-lait spot, Intrauterine growth retardation, Oligohydramnios |
ORPHA:364577 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Cousin Syndrome |
|
Rhizomelia, Hydrocephalus, Frontal bossing, Hydranencephaly, Disproportionate short stature, Micr... |
OMIM:260660 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cockayne Syndrome B |
|
Abnormality of skin pigmentation, Normal pressure hydrocephalus, Hypoplasia of the iris, Severe s... |
OMIM:133540 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Hydrocephalus, Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Premature Aging Syndrome, Penttinen Type |
|
Retrocerebellar cyst, Midface retrusion, Corneal stromal edema, Frontal bossing, Microphthalmia, ... |
OMIM:601812 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
Charge Syndrome |
|
Polyhydramnios, Anophthalmia, Arrhinencephaly, Unilateral microphthalmos, Holoprosencephaly, Dela... |
OMIM:214800 |
Jacobsen Syndrome |
|
Macular hypoplasia, Hydrocephalus, Holoprosencephaly, Flat occiput, Microphthalmia, Trigonocephal... |
OMIM:147791 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Beta-Thalassemia Intermedia |
|
Skin ulcer, Pallor |
ORPHA:231222 |
3P25.3 Microdeletion Syndrome |
|
Brachycephaly, Microphthalmia |
ORPHA:435638 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor, Pedal edema |
ORPHA:86839 |
Cohen Syndrome |
|
Abnormality of skin pigmentation, Short stature, Delayed puberty, Microphthalmia, Intrauterine gr... |
ORPHA:193 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Frontal bossing, Microphthalmia, Intrauterine growth retardation |
ORPHA:250989 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar hypoplasia, Lobar holoprosencephaly, Optic nerve hypoplasia, Severe short stature, Hyp... |
ORPHA:468631 |
3Q29 Microduplication Syndrome |
|
Biparietal narrowing, Craniosynostosis, Microphthalmia, Aniridia |
ORPHA:251038 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Pallor |
ORPHA:29072 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Frontal bossing, Disproportionate short-limb short stature, Molar tooth sign on MRI, Dysgenesis o... |
OMIM:619479 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Papillorenal Syndrome |
|
Microphthalmia, Edema, Chiari type I malformation, Short stature |
OMIM:120330 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Short stature, Frontal bossing, Hypoplasia of the pons, Multiple cafe-au-lait spots, Microphthalm... |
OMIM:616975 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Polyhydramnios, Turricephaly, Short stature, Spina bifida, Arrhinencephaly, Hydrocep... |
ORPHA:567 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Rare Circulatory System Disease |
|
Pallor |
ORPHA:98028 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A... |
ORPHA:2334 |
Lymphedema-Distichiasis Syndrome |
|
Lymphedema, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Chylothorax, Micropht... |
OMIM:153400 |
Martsolf Syndrome 1 |
|
Brachycephaly, Microphthalmia, Short stature |
OMIM:212720 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Cerebellar hypoplasia, Spina bifida, Short umbilical cord, Hydranencephaly, Micro... |
OMIM:256520 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Hydrops fetalis, Short stature, Cerebellar hypoplasia, Arrhinencephaly, Hydroceph... |
ORPHA:3472 |
Mend Syndrome |
|
Short stature, Spotty hypopigmentation, Hydrocephalus, Midface retrusion, Microphthalmia, Dandy-W... |
ORPHA:401973 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Frontal bossing, Parietal bossing, Microphthalmia |
OMIM:109400 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the midbrain, Hypoplasia of the pons, Short stature, Cerebellar hypoplasia |
OMIM:616202 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
Diamond-Blackfan Anemia 1 |
|
Parietal foramina, Intrauterine growth retardation, Short stature, Pallor |
OMIM:105650 |
Pearson Marrow-Pancreas Syndrome |
|
Dehydration, Hydrops fetalis, Erythema, Pallor |
OMIM:557000 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Monosomy 13Q14 |
|
Short stature, Holoprosencephaly, Microphthalmia, Trigonocephaly, Intrauterine growth retardation |
ORPHA:1587 |
Stromme Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Cerebellar vermis h... |
OMIM:243605 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Prolactinoma |
|
Delayed puberty, Pallor |
ORPHA:2965 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Scaphocephaly, Short stature, Hydrocephalus, Growth delay, Cranial asymmetry |
OMIM:614886 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Trichothiodystrophy |
|
Numerous pigmented freckles, Diffuse cerebellar atrophy, Bilateral microphthalmos, Dry skin, Cran... |
ORPHA:33364 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
47,Xyy Syndrome |
|
Cerebellar dysplasia, Hydrocephalus, Abnormal brainstem morphology, Dysgenesis of the cerebellar ... |
ORPHA:8 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Aicardi Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of skin pigmentation, Plagiocephaly, Delayed pu... |
ORPHA:50 |
Momo Syndrome |
|
Brachycephaly, Bilateral microphthalmos, Short stature, Frontal bossing |
ORPHA:2563 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Cerebral edema, Abnormal brainstem morphology |
ORPHA:88619 |
Orofaciodigital Syndrome Xiv |
|
Molar tooth sign on MRI, Cerebellar hypoplasia, Holoprosencephaly, Trigonocephaly, Occipital ence... |
OMIM:615948 |
Alternating Hemiplegia Of Childhood |
|
Dehydration, Pallor |
ORPHA:2131 |
Chromosome 13Q14 Deletion Syndrome |
|
Dolichocephaly, Frontal bossing, Holoprosencephaly, Microphthalmia, Growth delay, Umbilical hernia |
OMIM:613884 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia |
OMIM:610256 |
Treacher-Collins Syndrome |
|
Brachycephaly, Encephalocele, Midface retrusion, Frontal bossing, Microphthalmia, Branchial fistula |
ORPHA:861 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia |
OMIM:234050 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Coloboma, Ocular, Autosomal Dominant |
|
Growth delay, Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Wilson Disease |
|
Face of the giant panda sign, Pedal edema, Ascites, Edema |
OMIM:277900 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature |
OMIM:257910 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Aicardi Syndrome |
|
Chiari malformation, Spina bifida, Postnatal growth retardation, Microphthalmia, Dandy-Walker mal... |
OMIM:304050 |
Roberts Syndrome |
|
Brachycephaly, Polyhydramnios, Microphthalmia, Severe intrauterine growth retardation, Craniosyno... |
ORPHA:3103 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Brachycephaly, Microphthalmia, Frontal bossing |
ORPHA:1236 |
Teebi-Shaltout Syndrome |
|
Scaphocephaly, Turricephaly, Microphthalmia, Short stature |
OMIM:272950 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Holoprosencephaly 1 |
|
Short stature, Cerebellar hypoplasia, Proboscis, Midface retrusion, Alobar holoprosencephaly, Mic... |
OMIM:236100 |
Infection-Related Hemolytic Uremic Syndrome |
|
Edema, Generalized edema, Pleural empyema, Pallor |
ORPHA:544482 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Idiopathic Hypereosinophilic Syndrome |
|
Pleural effusion, Angioedema, Joint swelling, Pallor |
ORPHA:3260 |
Hallermann-Streiff Syndrome |
|
Brachycephaly, Cerebellar hypoplasia, Frontal bossing, Microphthalmia, Proportionate short stature |
ORPHA:2108 |
Esophageal Atresia |
|
Polyhydramnios, Growth delay, Pallor |
ORPHA:1199 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Craniosynostosis, Growth delay, Pallor |
ORPHA:667 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature |
ORPHA:2714 |
3Q29 Microdeletion Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia |
ORPHA:65286 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Oculocerebrorenal Syndrome Of Lowe |
|
Generalized hypopigmentation, Short stature, Skin ulcer, Frontal bossing, Buphthalmos, Delayed pu... |
ORPHA:534 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Optic disc hypoplasia, Microphthalmia |
OMIM:607323 |
Phace Association |
|
Optic nerve hypoplasia, Microphthalmia, Dandy-Walker malformation, Cerebellar hypoplasia |
OMIM:606519 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Cafe-au-lait spot, Unilateral microphthalmos, Short stature |
OMIM:618874 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin, Growth delay, Short stature, Cranial asymmetry |
OMIM:163200 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Scaphocephaly, Frontal bossing, Severe postnatal growth retardation, Microphthalmia, Craniosynost... |
OMIM:620005 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Oculoauricular Syndrome |
|
Macular hypoplasia, Spina bifida occulta, Microphthalmia, Phthisis bulbi, Microphakia |
OMIM:612109 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Fryns Syndrome |
|
Polyhydramnios, Microphthalmia, Dandy-Walker malformation |
ORPHA:2059 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Cat Eye Syndrome |
|
Short stature, Microphthalmia, Umbilical hernia |
OMIM:115470 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Hyperpigmented streaks |
OMIM:300952 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Hydrops fetalis, Microphthalmia |
ORPHA:268249 |
Craniofacial Microsomia |
|
Branchial anomaly, Chiari malformation, Anophthalmia, Hydrocephalus, Microphthalmia, Occipital en... |
OMIM:164210 |
Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Anencephaly, Arrhinencephaly, Microphthalmia, Severe hydrocephalus, Intrauterine ... |
OMIM:236680 |
Acrofrontofacionasal Dysostosis 1 |
|
Brachycephaly, Microphthalmia, Short stature |
OMIM:201180 |
Myhre Syndrome |
|
Birth length less than 3rd percentile, Short stature, Pericardial effusion, Midface retrusion, Mi... |
OMIM:139210 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasia of the iris, Oligo... |
OMIM:609049 |
Von Hippel-Lindau Disease |
|
Macular edema, Cerebellar hemangioblastoma, Pallor |
ORPHA:892 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Pallister-Hall Syndrome |
|
Microphthalmia, Holoprosencephaly, Intrauterine growth retardation, Short stature |
OMIM:146510 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Delayed puberty, Pallor |
ORPHA:91347 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Short stature, Trigonocephaly |
ORPHA:251014 |
Blackfan-Diamond Anemia |
|
Growth delay, Nonimmune hydrops fetalis, Short stature, Pallor |
ORPHA:124 |
Dubowitz Syndrome |
|
Short stature, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Postnatal... |
OMIM:223370 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Short stature |
ORPHA:568 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Cafe-au-lait spot, Intrauterine growth retardation, Oligohydramnios |
OMIM:608670 |
Ohdo Syndrome, X-Linked |
|
Cafe-au-lait spot, Microphthalmia |
OMIM:300895 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the frontal bone, Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Fryns Syndrome |
|
Polyhydramnios, Arrhinencephaly, Microphthalmia, Chylothorax, Dandy-Walker malformation |
OMIM:229850 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Brachycephaly, Decreased calvarial ossification, Microphthalmia, Frontal bossing |
OMIM:617925 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Delayed puberty, Abnormal midbrain morphology, Short stature |
ORPHA:293987 |
Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... |
ORPHA:470 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida, Microphthalmia, Short stature, Optic nerve hypoplasia |
ORPHA:508498 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Rhizomelia, Severe short stature, Microphthalmia |
ORPHA:85167 |
Holoprosencephaly 2 |
|
Cerebellar hypoplasia, Proboscis, Midface retrusion, Semilobar holoprosencephaly, Alobar holopros... |
OMIM:157170 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
Cockayne Syndrome |
|
Dense calcifications in the cerebellar dentate nucleus, Premature skin wrinkling, Severe short st... |
ORPHA:191 |
Monosomy 9P |
|
Brachycephaly, Calvarial skull defect, Microphthalmia, Trigonocephaly |
ORPHA:261112 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Dandy-Walker malformation, Trigonocephaly |
ORPHA:434179 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Adams-Oliver Syndrome 1 |
|
Calvarial skull defect, Encephalocele, Microphthalmia |
OMIM:100300 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Short stature, Frontal bossing |
OMIM:268400 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Persistent Hyperplastic Primary Vitreous |
|
Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi |
ORPHA:91495 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Dry skin, Intrauterine growth retardation |
OMIM:263650 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
Pallister-Hall Syndrome |
|
Scaphocephaly, Short stature, Cerebellar hypoplasia, Arrhinencephaly, Oligohydramnios, Holoprosen... |
ORPHA:672 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... |
ORPHA:90041 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Microphthalmia, Short stature |
OMIM:309801 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Birth length less than 3rd percentile, Abnormal brainstem morphology, Oligohydram... |
ORPHA:464311 |
Roberts-Sc Phocomelia Syndrome |
|
Brachycephaly, Polyhydramnios, Cafe-au-lait spot, Craniosynostosis, Hydrocephalus, Microphthalmia... |
OMIM:268300 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Steinfeld Syndrome |
|
Holoprosencephaly, Microphthalmia |
OMIM:184705 |
Phace Syndrome |
|
Cerebellar hypoplasia, Lens coloboma, Optic nerve hypoplasia, Microphthalmia, Dandy-Walker malfor... |
ORPHA:42775 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Bilateral microphthalmos, Growth delay, Intrauterine growth retardation, Postnatal... |
ORPHA:93325 |
Kenny-Caffey Syndrome, Type 2 |
|
Severe short stature, Microphthalmia, Short stature |
OMIM:127000 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microphthalmia, Postnatal growth retardation |
ORPHA:959 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Leigh Syndrome With Cardiomyopathy |
|
Abnormal brainstem morphology |
ORPHA:70474 |
Semilobar Holoprosencephaly |
|
Short stature, Abnormal brainstem morphology, Proboscis, Neural tube defect, Hydrocephalus, Growt... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Abnormal brainstem morphology, Proboscis, Neural tube defect, Hydrocephalus, Growt... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Abnormal brainstem morphology, Proboscis, Neural tube defect, Hydrocephalus, Growt... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Abnormal brainstem morphology, Proboscis, Neural tube defect, Hydrocephalus, Growt... |
ORPHA:93924 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Dense calcifications in the cerebellar dentate nucleus, Microp... |
ORPHA:90324 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachycephaly, Palmoplantar erythema, Turricephaly, Prominent occiput, Frontal bossing, Microphth... |
OMIM:612474 |
Bosma Arhinia Microphthalmia Syndrome |
|
Midface retrusion, Microphthalmia |
OMIM:603457 |
Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Parietal foramina, Craniosynostosis, Microphthalmia |
OMIM:609945 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Neuroocular Syndrome |
|
Short stature, Midface retrusion, Lens coloboma, Hypoplasia of the fovea, Microphthalmia, Umbilic... |
OMIM:619539 |
Witteveen-Kolk Syndrome |
|
Polyhydramnios, Short stature, Frontal bossing, Microphthalmia, Growth delay, Branchial fistula, ... |
OMIM:613406 |
Schinzel-Giedion Syndrome |
|
Neural tube defect, Midface retrusion, Frontal bossing, Chiari type I malformation, Umbilical hernia |
ORPHA:798 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Microphthalmia |
ORPHA:3186 |
Renpenning Syndrome 1 |
|
Brachycephaly, Microphthalmia, Short stature |
OMIM:309500 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Growth delay |
OMIM:309800 |
Wiedemann-Rautenstrauch Syndrome |
|
Thickened calvaria, Short stature, Cerebellar hypoplasia, Dermal translucency, Optic disc hypopla... |
ORPHA:3455 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Microphthalmia, Short stature |
OMIM:259770 |
8Q24.3 Microdeletion Syndrome |
|
Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, Spina bifida occu... |
ORPHA:508488 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Short stature |
OMIM:616734 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus, Microphthalmia |
OMIM:273395 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci... |
OMIM:309000 |
Norrie Disease |
|
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the iris, Delayed puberty, Microphthalmia, Ap... |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hypoplasia of the iris, Hydrocephalus, Microphthalmia |
OMIM:175780 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Short stature, Cerebellar hypoplasia, Enlarged cerebellum, Right unicoronal synostosis, Chiari ty... |
ORPHA:261537 |
Townes-Brocks Syndrome |
|
Microphthalmia, Delayed puberty, Chiari malformation, Short stature |
ORPHA:857 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Short stature, Cerebellar hypoplasia, Enlarged cerebellum, Frontal bossing, Right unicoronal syno... |
ORPHA:261552 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
Mowat-Wilson Syndrome |
|
Short stature, Enlarged cerebellum, Microphthalmia, Growth delay, Agenesis of cerebellar vermis, ... |
ORPHA:2152 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Short stature |
OMIM:235730 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |