| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
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 |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cerebellar hypoplasia, Edema, Intrauterine growth retardation |
OMIM:616570 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydroc... |
ORPHA:1532 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, C... |
ORPHA:1528 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation |
OMIM:164180 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... |
OMIM:611134 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Cerebellar hypoplasia, Microphth... |
OMIM:218670 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Microphthalmia,... |
OMIM:616171 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Short stature, Pallor, Albinism |
ORPHA:2786 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Microphthalmia, Agenesis of cerebellar vermis, Intrauterine growth retar... |
OMIM:615665 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Joubert Syndrome 10 |
|
Growth delay, Frontal bossing, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature, Brachycephaly |
ORPHA:2528 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Frontal bossing, Short stature |
ORPHA:166024 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormal calvaria morphology |
ORPHA:2432 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
| Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Chiari malformation, Microphthalmi... |
ORPHA:3378 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Lissencephaly 8 |
|
Occipital encephalocele, Retrocerebellar cyst, Hypoplasia of the brainstem, Cerebellar hypoplasia... |
OMIM:617255 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cereb... |
OMIM:615181 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Brachycephaly, Oligohydramnios, Mi... |
ORPHA:228390 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Anophthalmia |
ORPHA:411986 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Cerebellar malformation, Hydrocephalus |
ORPHA:324416 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Microphthalmia, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia |
OMIM:615771 |
| Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia |
ORPHA:2189 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... |
OMIM:613155 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Lobar holoprosencephaly, Microphthalmia, Intrauterine growth ret... |
ORPHA:2117 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Multiple cafe-au-lait spots, Intrauterine growth re... |
OMIM:609054 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Trisomy 1Q |
|
Frontal bossing, Anophthalmia, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Hydr... |
ORPHA:261344 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Frontal bossing, Occipital encephalocele, Anencephaly, Cerebellar hypop... |
OMIM:614175 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Congenital Heart Block |
|
Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Intrauterine growth retardation,... |
ORPHA:60041 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... |
OMIM:614424 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia |
OMIM:614830 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Cofs Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1466 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem... |
OMIM:613153 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Intrauterine gro... |
OMIM:614815 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne... |
ORPHA:370959 |
| Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus... |
OMIM:608091 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia, I... |
ORPHA:3412 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Microphthalmia, Short stature, Cerebellar hypoplasia |
OMIM:251270 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Hypoplasia of the pons, Brachyce... |
OMIM:618736 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Joubert Syndrome 37 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Molar tooth sign on MRI, Microphtha... |
OMIM:619185 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Chiari malformation, Pallor, Microphthalmia, Cafe-au-lait ... |
OMIM:609053 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Anophthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasi... |
OMIM:605627 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Hyperpigmentation of the skin |
ORPHA:75563 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Craniosynostosis, Atrophy/Degene... |
ORPHA:356961 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Brachycephaly, Cutis laxa, Abnormality of skin pigmentation, Microp... |
OMIM:612379 |
| Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrocephalus, Hydrops fetalis, Pallor, Oligohydramnios |
ORPHA:163596 |
| Pierpont Syndrome |
|
Microphthalmia, Chiari malformation, Brachycephaly, Excessive wrinkling of palmar skin |
ORPHA:487825 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Ascites, Intrauterine growth retardation |
ORPHA:858 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia, Multiple cafe-au-lait spots |
OMIM:614082 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Short stature, Delayed puberty |
ORPHA:141333 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Anencephaly |
OMIM:614120 |
| Pierpont Syndrome |
|
Short stature, Brachycephaly, Chiari malformation, Microphthalmia, Midface retrusion |
OMIM:602342 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Brachycephaly |
ORPHA:66625 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly, Microphthalmia |
ORPHA:77298 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Frontal bossing, Abnormal cerebellum morphology |
OMIM:617757 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Joubert Syndrome 7 |
|
Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia |
OMIM:611560 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia, Hypermelanotic macule |
ORPHA:90322 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Dandy-Walker malformation, Intrauterine ... |
OMIM:603194 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly |
OMIM:147250 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia,... |
ORPHA:163966 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
| Microphthalmia With Limb Anomalies |
|
Frontal bossing, Anophthalmia, Postnatal growth retardation, Growth delay, Microphthalmia |
OMIM:206920 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia, Abnormal cerebellar vermis mo... |
ORPHA:899 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
| Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Short stature, Growth delay, Cerebellar hypoplasia, Microphthalmia |
OMIM:606744 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Optic nerve hypoplasia, Bilateral microphthalmos, Hyperpigmented nevi, Brachytur... |
OMIM:607597 |
| Cat-Eye Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor |
OMIM:613561 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Craniosynostosis 6 |
|
Cerebellar atrophy, Turricephaly, Dandy-Walker malformation, Craniosynostosis, Parietal foramina,... |
OMIM:616602 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:617127 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Bilateral microphthalmos, Cerebellar vermis atrophy, Atrophy/Degenerati... |
ORPHA:77299 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth re... |
OMIM:300863 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Anophthalmia |
ORPHA:139471 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Craniosynostosis, Par... |
OMIM:613451 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| 2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
| Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Melanocytic nevus, Prominent occiput, Plagiocephaly, Growth delay, Biparietal na... |
ORPHA:2612 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Plagiocephaly, Growth delay, Microphthalmia, Intrauterine ... |
ORPHA:85284 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Short stature, Abnormal midbrain morphology, Polyhydramnios, Brachyturricephaly, M... |
ORPHA:314621 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Cloverleaf skull, Rhizomelia, Platybasia, Microphthalmia |
ORPHA:93267 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia, Cerebellar vermis hypoplasia, Short stature, Cerebellar hypoplasia |
OMIM:600118 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia |
OMIM:619111 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Frontal bossing, Lymphedema |
OMIM:607131 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the ... |
OMIM:619306 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Plagiocephaly, Dolichocephaly, Aniridia, Umbilical hernia |
ORPHA:1101 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Hypopigmented skin patches, Multiple... |
ORPHA:207 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:48431 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Hydrocephalus, Brachycephaly, Melanocytic nevus, Midface retrusion |
OMIM:612247 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:3469 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital myelo... |
OMIM:213300 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Elongated supe... |
OMIM:615636 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature |
OMIM:300915 |
| Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microphthalmia, Growth delay |
OMIM:308350 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Frontal bossing |
OMIM:617120 |
| Holoprosencephaly |
|
Encephalocele, Frontal bossing, Anophthalmia, Flat occiput, Hydrocephalus, Spinal dysraphism, Bra... |
ORPHA:2162 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sig... |
ORPHA:2318 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Frontal bossing, Occipital encephalocele, Redundant neck skin, Short stature, Cerebellar vermis h... |
ORPHA:397715 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature |
OMIM:610023 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Frontal bossing, Polyhydramnios |
ORPHA:2547 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sig... |
ORPHA:220497 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
| Monosomy 18P |
|
Short stature, Lymphedema, Brachycephaly, Holoprosencephaly, Microphthalmia |
ORPHA:1598 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Anophthalmia, Edema, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Mic... |
ORPHA:2526 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... |
OMIM:216360 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Retrocerebellar cyst, Cerebellar hypoplasia, Microphthalmia, Oligohydramnios |
OMIM:614219 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Brachycephaly, Microphthalmia, Midface retrusion |
ORPHA:1791 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Short stature, Edema, Umbilical hernia, Microphthalmia, Irregular hyperpigmentation |
ORPHA:2505 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Partial absence of cerebellar vermis, Buphthalmos, Hypoplasia of th... |
OMIM:613150 |
| Meckel Syndrome |
|
Encephalocele, Anophthalmia, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla... |
ORPHA:564 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Frontal bossing, Intrauterine growth retardation |
ORPHA:1438 |
| Fibular Hemimelia |
|
Anophthalmia, Spina bifida, Craniosynostosis |
ORPHA:93323 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sig... |
ORPHA:220493 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microp... |
OMIM:615249 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Cerebellar hypoplasia, Molar tooth sign on MRI, Microphthalmia, Dandy-... |
OMIM:616300 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Midface retrusion |
ORPHA:1135 |
| Baraitser-Winter Syndrome 2 |
|
Trigonocephaly, Microphthalmia, Short stature |
OMIM:614583 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypopl... |
OMIM:616546 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Abno... |
ORPHA:163961 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Pontocerebellar Hypoplasia Type 10 |
|
Growth delay, Abnormal brainstem morphology |
ORPHA:411493 |
| Temtamy Syndrome |
|
Microphthalmia, Dolichocephaly |
ORPHA:1777 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Cafe-au-lait spot, Pallor |
OMIM:615234 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Premature skin wrinkling |
OMIM:601349 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Chiari type I malformation, Abnorma... |
OMIM:218350 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:608629 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor |
OMIM:266200 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Hypo... |
ORPHA:444072 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Flat occiput, Short stature, Oligohydramnios, Hypoplasia of the iris, Hypopla... |
OMIM:251300 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... |
OMIM:601186 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature |
OMIM:614833 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:290 |
| Alg3-Cdg |
|
Hypoplasia of the pons, Neural tube defect, Hypopigmentation of the skin, Dandy-Walker malformation |
ORPHA:79321 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Cerebellar hypoplasia, Pallor |
OMIM:613839 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Anophthalmia, Hydrocephalus, Erythema, Hypopigmented skin patches, Growth d... |
ORPHA:2556 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Prominent occiput, Growth delay, Microphthalmia, Da... |
OMIM:616920 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Hypoplasia of the brainstem, Pallor, Cerebe... |
OMIM:253280 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Redundant neck skin, Abnormal cerebellum morphology |
OMIM:618652 |
| Microphthalmia, Syndromic 3 |
|
Frontal bossing, Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postna... |
OMIM:206900 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:602501 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Optic nerve hypoplasia, Hydrocephalus, Hypoplasia of the brainste... |
OMIM:614643 |
| Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Cerebellar vermis hypoplasia, Postnatal growth retardation, Microphthalmia, Intr... |
ORPHA:494344 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Microphthalmia, Cerebellar hypoplasia, Dehydration |
OMIM:214150 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Lymphedema |
ORPHA:3226 |
| Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Anophthalmia, Hypermelanotic macule |
ORPHA:90321 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Frontal bossing, Short stature |
ORPHA:2788 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
| American Trypanosomiasis |
|
Periorbital edema, Pallor, Edema |
ORPHA:3386 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| Marden-Walker Syndrome |
|
Postnatal growth retardation, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microphthalmia,... |
OMIM:248700 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Achondrogenesis, Type Ii |
|
Frontal bossing, Edema, Abnormally large globe, Polyhydramnios, Disproportionate short-trunk shor... |
OMIM:200610 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Aqueductal stenosis, Microphthalmia, Intrauterine growth retardation, Oligohydr... |
OMIM:251230 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Brachycephaly |
OMIM:613456 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:613730 |
| Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphtha... |
OMIM:610829 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Cerebellar hypoplasia, Microphthalmia, Intrauterine growth... |
OMIM:617914 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Short stature, Brachycephaly, Severe postnatal growth retardation, Microphtha... |
OMIM:615663 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Short stature, Holoprosencephaly, Cerebellar hypoplasia, Dolichocephaly, Trigono... |
OMIM:612530 |
| Sandestig-Stefanova Syndrome |
|
Trigonocephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:618804 |
| Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Frontal bossing, Short stature, Edema, Oligohydramnios, Microphthalmia, Midfa... |
OMIM:617729 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Short stature, Bilateral microphthalmos, Brachycephaly, Plagiocephaly, Umbilical hernia, Midface ... |
ORPHA:369891 |
| Charge Syndrome |
|
Anophthalmia, Short stature, Polyhydramnios, Postnatal growth retardation, Aqueductal stenosis, H... |
ORPHA:138 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Frontal bossing, Short stature, Generalized hypopigmentation |
OMIM:617306 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short stature |
OMIM:300887 |
| Stevenson-Carey Syndrome |
|
Cerebellar hypoplasia, Microphthalmia, Brachycephaly |
OMIM:611961 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Flat occiput, Lymphedema |
OMIM:152950 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Short stature, Anencephaly, Brachycephaly, Trigonocephaly, Microphthalmia, Cafe-au... |
OMIM:619148 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
| Mosaic Trisomy 9 |
|
Spina bifida, Polyhydramnios, Hydrops fetalis, Oligohydramnios, Prominent occiput, Biparietal nar... |
ORPHA:99776 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos... |
OMIM:236670 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:618805 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Anterior plagiocephaly, Frontal bossing, Microphthalmia, Brachycephaly |
ORPHA:163649 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Frontal bossing, Short stature, Aplasia/Hypoplasia of the cerebellum, Polyhydramnios, Increased n... |
ORPHA:1052 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Baraitser-Winter Syndrome 1 |
|
Short stature, Postnatal growth retardation, Trigonocephaly, Microphthalmia, Midface retrusion |
OMIM:243310 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Ol... |
OMIM:249000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly, Cerebellar hypoplas... |
OMIM:253800 |
| Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Oligohydramnios, Prominent occiput, Growth delay, Chiar... |
ORPHA:3380 |
| Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia |
OMIM:619562 |
| Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bi... |
OMIM:610828 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Short stature |
OMIM:169550 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... |
ORPHA:68 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Short stature, Biparietal narrowing, Intrauterine growth retardation |
ORPHA:1915 |
| Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia, Hydrocephalus, Chiari type I malformation |
OMIM:617244 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Unicoronal synostosis, Lipomyelomeningocele, Chiari type I malformation, M... |
OMIM:601707 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
| Focal Dermal Hypoplasia |
|
Linear hyperpigmentation, Anophthalmia, Short stature, Myelomeningocele, Hydrocephalus, Reticular... |
OMIM:305600 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Frontal bossing, Anophthalmia, Plagiocephaly, Growth delay, Microphthalmia |
ORPHA:2538 |
| Trichothiodystrophy 3, Photosensitive |
|
Trigonocephaly, Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia, Short stature, Skin ulcer |
ORPHA:1806 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Lymphedema |
ORPHA:79279 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Short stature, Brachycephaly |
ORPHA:264200 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Short stature, Erythema, Abnormality of skin pigmentation, Pallor, Micro... |
OMIM:308300 |
| Fanconi Anemia, Complementation Group C |
|
Short stature, Anemic pallor, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, I... |
OMIM:227645 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Pallor, Cerebellar malformation, Microphthalmia, Congenital aphakia, Pulmonary edema |
ORPHA:137675 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:261272 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Dominant Beta-Thalassemia |
|
Frontal bossing, Skin ulcer, Growth delay, Pallor, Delayed puberty, Hyperpigmentation of the skin |
ORPHA:231226 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Cer... |
ORPHA:79139 |
| Joubert Syndrome 38 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Molar tooth sign on MRI, Inferior c... |
OMIM:619476 |
| Hallermann-Streiff Syndrome |
|
Frontal bossing, Spina bifida, Proportionate short stature, Scaphocephaly, Brachycephaly, Dry ski... |
OMIM:234100 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Increased nuchal translucency, Cerebellar vermis hypoplasia, Oligohydramnios |
OMIM:618494 |
| Fumarase Deficiency |
|
Frontal bossing, Polyhydramnios, Hypoplasia of the brainstem, Pallor, Ascites |
OMIM:606812 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Buphthalmos, Abnormal pons morpholog... |
ORPHA:370997 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Aniridia, Microphthalmia, Ascites |
OMIM:602361 |
| Fanconi Anemia, Complementation Group E |
|
Short stature, Anemic pallor, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:600901 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Microphthalmia, Ascites, Calvarial skull defect |
ORPHA:974 |
| Curry-Jones Syndrome |
|
Microphthalmia, Hypopigmented skin patches, Craniosynostosis |
ORPHA:1553 |
| Fanconi Anemia, Complementation Group A |
|
Short stature, Anemic pallor, Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot |
OMIM:227650 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... |
ORPHA:85194 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Delayed puberty, Mic... |
ORPHA:2510 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Frontal bossing, Short stature, Dolichocephaly, Microphthalmia, Inferior cerebellar vermis hypopl... |
OMIM:618571 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
| Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Short stature, Unilateral microphthalmos |
OMIM:619318 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Increased nuchal translucency, Decreased calvarial ossification, Holopro... |
OMIM:619879 |
| Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Myelomeningocele, Bilateral microphthalmos, Hydrocephalus, Calvarial... |
OMIM:219000 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypoplasia, Microphth... |
OMIM:613001 |
| Bartsocas-Papas Syndrome 2 |
|
Prominent occiput, Microphthalmia |
OMIM:619339 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Polyhydramnios, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, ... |
OMIM:603467 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Dolichocephaly |
OMIM:167730 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Beta-Thalassemia Major |
|
Frontal bossing, Skin ulcer, Growth delay, Pallor, Delayed puberty, Hyperpigmentation of the skin |
ORPHA:231214 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Chiari malformation, Hydrom... |
ORPHA:268810 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Edema, Polyhydramnios, Postnatal growth retardation, Microphthalmia,... |
OMIM:302960 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Microphthalmia, Cerebellar cyst |
OMIM:616538 |
| Waldenström Macroglobulinemia |
|
Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura |
ORPHA:33226 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Frontal bossing |
OMIM:614105 |
| Beta-Ketothiolase Deficiency |
|
Pallor, Edema, Dehydration |
ORPHA:134 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Cafe-au-lait spot, Pallor |
ORPHA:300298 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Frontal bossing, Postnatal growth retardation, Severe intrauterine growth retarda... |
OMIM:241410 |
| Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Growth delay, Biparietal narrowing,... |
ORPHA:2754 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia |
ORPHA:137634 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia, Calvarial skull ... |
ORPHA:2052 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Short stature |
ORPHA:3191 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Frontal bossing, Short stature, Severe postnatal growth retardation, Scaling skin, Microphthalmia |
ORPHA:35173 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Short stature, Cerebellar hypoplasia |
OMIM:610758 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Temtamy Syndrome |
|
Microphthalmia, Frontal bossing |
OMIM:218340 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Premature skin wrinkling |
ORPHA:1942 |
| Sepsis In Premature Infants |
|
Edema, Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
| Moebius Syndrome |
|
Microphthalmia, Hypoplasia of the brainstem |
OMIM:157900 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Incontinentia Pigmenti |
|
Short stature, Erythema, Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation... |
ORPHA:464 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Polyhydramnios, Hydrocephalus, Umbilical hernia, Holoprosencephaly, Cerebellar hyp... |
ORPHA:2166 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Frontal bossing, Unilateral microphthalmos |
OMIM:615085 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Microphthalmia, Freckling, Short stature |
OMIM:610651 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia, Brachycephaly |
OMIM:614222 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Brachycephaly, Plagiocephaly, Cerebellar hypoplasia, Lambdoidal craniosynostosis, M... |
OMIM:607932 |
| Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
| Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia, Short stature |
OMIM:277170 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation, Dolichocephaly |
ORPHA:2399 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Oligohydramnios |
OMIM:619053 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Short stature, Phthisis bulbi, Umbilical hernia, Microphthalmia, Dandy-Walker malfo... |
OMIM:300166 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia |
OMIM:264480 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum... |
ORPHA:2720 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Proboscis, Holoprosencephaly, Microphthalmia |
ORPHA:141099 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Edema, Dehydration |
ORPHA:20 |
| Fanconi Anemia, Complementation Group D2 |
|
Short stature, Anemic pallor, Hydrocephalus, Abnormality of skin pigmentation, Microphthalmia, Ca... |
OMIM:227646 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Brachycephaly |
ORPHA:404440 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Cerebellar vermis atrophy, Brachycephaly, Dandy-Walker malformation |
OMIM:156610 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
| Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Bilateral micro... |
ORPHA:2839 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Edema |
ORPHA:329971 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature |
OMIM:617883 |
| Mosaic Trisomy 1 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Polyhydramnios, Increased nuchal translucency, Cer... |
ORPHA:1692 |
| Microphthalmia With Limb Anomalies |
|
Frontal bossing, Short stature, Hydrocephalus, Microphthalmia, True anophthalmia |
ORPHA:1106 |
| Monosomy 9Q22.3 |
|
Hydrocephalus, Umbilical hernia, Chiari malformation, Trigonocephaly, Microphthalmia |
ORPHA:77301 |
| Fontaine Progeroid Syndrome |
|
Dermal translucency, Turricephaly, Cerebellar vermis hypoplasia, Short stature, Redundant skin, C... |
OMIM:612289 |
| Degcags Syndrome |
|
Craniosynostosis, Polyhydramnios, Plagiocephaly, Abnormality of skin pigmentation, Pallor, Microp... |
OMIM:619488 |
| Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Microphthalmia, Brachycephaly |
OMIM:614225 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:2728 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Agenesis of cerebellar vermis, Postnatal growth retardation, Branchial anomaly, Dol... |
OMIM:113620 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Growth delay, Cerebellar hypoplasia, Microphthalmia, Cafe-au-lait spot, Intrauteri... |
OMIM:614083 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
| Fanconi Anemia |
|
Frontal bossing, Short stature, Spina bifida, Hydrocephalus, Oligohydramnios, Hypopigmented skin ... |
ORPHA:84 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Frontal bossing, Midface retrusion |
OMIM:620098 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Freckling, Dry skin, Short stature |
OMIM:601675 |
| Refsum Disease |
|
Microphthalmia, Dry skin |
ORPHA:773 |
| Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia, Cerebellar vermis hypoplasia |
OMIM:619135 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis, Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Cerebellar d... |
OMIM:601374 |
| Hereditary Spherocytosis |
|
Growth delay, Pallor, Skin ulcer |
ORPHA:822 |
| Focal Dermal Hypoplasia |
|
Spina bifida, Erythema, Hypoplasia of the iris, Abnormality of skin pigmentation, Umbilical herni... |
ORPHA:2092 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Frontofacionasal Dysplasia |
|
Brachycephaly, Cranium bifidum occultum, Microphthalmia, Midface retrusion, Hypoplasia of the fro... |
OMIM:229400 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Cousin Syndrome |
|
Frontal bossing, Rhizomelia, Hydrocephalus, Disproportionate short stature, Hydranencephaly, Micr... |
OMIM:260660 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Polyhydramnios |
ORPHA:3301 |
| 1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation |
ORPHA:250989 |
| Cockayne Syndrome B |
|
Severe short stature, Cerebellar calcifications, Postnatal growth retardation, Hypoplasia of the ... |
OMIM:133540 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Brachycephaly |
ORPHA:435638 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| Premature Aging Syndrome, Penttinen Type |
|
Frontal bossing, Corneal stromal edema, Retrocerebellar cyst, Thin calvarium, Microphthalmia, Mid... |
OMIM:601812 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Cafe-au-lait spot, Oligohydramnios, Intrauterine growth retardation |
ORPHA:364577 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor, Pedal edema |
ORPHA:86839 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Pallor |
ORPHA:29072 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Frontal bossing, Short stature, Brachycephaly |
OMIM:257850 |
| Jacobsen Syndrome |
|
Flat occiput, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Trigonocephaly, Microphthalmi... |
OMIM:147791 |
| Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Frontal bossing, Dysgenesis of the cerebellar vermis, Disproportionate s... |
OMIM:619479 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Severe short stature, Optic nerve hypoplasia, Craniosynostosis, Abnormal occi... |
ORPHA:468631 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia, Biparietal narrowing, Craniosynostosis |
ORPHA:251038 |
| Diamond-Blackfan Anemia 1 |
|
Short stature, Parietal foramina, Pallor, Intrauterine growth retardation, Spina bifida occulta |
OMIM:105650 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Cohen Syndrome |
|
Short stature, Abnormality of skin pigmentation, Delayed puberty, Microphthalmia, Intrauterine gr... |
ORPHA:193 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Postnatal growth retardation, Unilateral microphthalmos, Umbilical ... |
OMIM:214800 |
| Neu-Laxova Syndrome 1 |
|
Generalized edema, Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Cerebellar... |
OMIM:256520 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Hypoplasia of the pons, Multiple ca... |
OMIM:616975 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
| Papillorenal Syndrome |
|
Chiari type I malformation, Microphthalmia, Short stature, Edema |
OMIM:120330 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Martsolf Syndrome 1 |
|
Microphthalmia, Short stature, Brachycephaly |
OMIM:212720 |
| Basal Cell Nevus Syndrome 1 |
|
Frontal bossing, Spina bifida, Hydrocephalus, Microphthalmia, Parietal bossing |
OMIM:109400 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
| Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain, Short stature, Cerebellar hypoplasia |
OMIM:616202 |
| Mend Syndrome |
|
Short stature, Hydrocephalus, Spotty hypopigmentation, Microphthalmia, Midface retrusion, Dandy-W... |
ORPHA:401973 |
| Holoprosencephaly 1 |
|
Short stature, Proboscis, Alobar holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Ethmoc... |
OMIM:236100 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
| 22Q11.2 Deletion Syndrome |
|
Turricephaly, Purpura, Short stature, Spina bifida, Polyhydramnios, Hydrocephalus, Meningocele, H... |
ORPHA:567 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor, Hydrops fetalis, Dehydration |
OMIM:557000 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Monosomy 13Q14 |
|
Short stature, Holoprosencephaly, Trigonocephaly, Microphthalmia, Intrauterine growth retardation |
ORPHA:1587 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Micro... |
OMIM:243605 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Trichothiodystrophy |
|
Craniosynostosis, Diffuse cerebellar atrophy, Bilateral microphthalmos, Numerous pigmented freckl... |
ORPHA:33364 |
| 47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... |
ORPHA:8 |
| Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Growth delay |
OMIM:614886 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration |
ORPHA:2131 |
| Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Growth delay, Umbilical hernia, Holoprosencephaly, Dolichocephaly, Microphthalmia |
OMIM:613884 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Aicardi Syndrome |
|
Plagiocephaly, Abnormality of skin pigmentation, Delayed puberty, Aplasia/Hypoplasia of the cereb... |
ORPHA:50 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Cerebral edema |
ORPHA:88619 |
| Momo Syndrome |
|
Frontal bossing, Bilateral microphthalmos, Short stature, Brachycephaly |
ORPHA:2563 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Holoprosencephaly, Cerebellar hypoplasia, ... |
OMIM:615948 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Treacher-Collins Syndrome |
|
Encephalocele, Frontal bossing, Branchial fistula, Brachycephaly, Microphthalmia, Midface retrusion |
ORPHA:861 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia |
OMIM:234050 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
| Wilson Disease |
|
Ascites, Pedal edema, Edema, Face of the giant panda sign |
OMIM:277900 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature |
OMIM:257910 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Short stature, Polyhydramnios, Abnormal occipital bone morphology, Postnatal... |
ORPHA:3472 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Postnatal growth retardation, Chiari malformation, Mi... |
OMIM:304050 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Frontal bossing, Brachycephaly |
ORPHA:1236 |
| Roberts Syndrome |
|
Craniosynostosis, Polyhydramnios, Postnatal growth retardation, Brachycephaly, Severe intrauterin... |
ORPHA:3103 |
| Esophageal Atresia |
|
Growth delay, Pallor, Polyhydramnios |
ORPHA:1199 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pleural empyema, Pallor, Edema, Generalized edema |
ORPHA:544482 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pleural effusion, Angioedema, Joint swelling, Pallor |
ORPHA:3260 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia, Turricephaly, Scaphocephaly, Short stature |
OMIM:272950 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Hallermann-Streiff Syndrome |
|
Frontal bossing, Proportionate short stature, Brachycephaly, Cerebellar hypoplasia, Microphthalmia |
ORPHA:2108 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Frontal bossing, Flat occiput, Short stature, Skin ulcer, Dehydration, Buphthalmos, Joint swellin... |
ORPHA:534 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Hydrocephalus, Pallor, Craniosynostosis |
ORPHA:667 |
| 3Q29 Microdeletion Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia |
ORPHA:65286 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Cafe-au-lait spot, Short stature, Unilateral microphthalmos |
OMIM:618874 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:2714 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Short stature, Polyhydramnios, Dolichocephaly, Microphthalmia, Midface retrusion,... |
OMIM:620186 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Short stature, Brachycephaly |
OMIM:201180 |
| Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Hypopigmentation of the skin, Cranial asymmetry, Short stature |
OMIM:163200 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:606519 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Craniosynostosis, Scaphocephaly, Severe postnatal growth retardation, Microphtha... |
OMIM:620005 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Short stature |
OMIM:115470 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus, Hydrops fetalis |
ORPHA:268249 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Fryns Syndrome |
|
Microphthalmia, Dandy-Walker malformation, Polyhydramnios |
ORPHA:2059 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Chiari malformation, Mic... |
OMIM:164210 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Hyperpigmented streaks |
OMIM:300952 |
| Von Hippel-Lindau Disease |
|
Cerebellar hemangioblastoma, Pallor, Macular edema |
ORPHA:892 |
| Myhre Syndrome |
|
Short stature, Pericardial effusion, Birth length less than 3rd percentile, Microphthalmia, Thick... |
OMIM:139210 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
| Diamond-Blackfan Anemia |
|
Growth delay, Nonimmune hydrops fetalis, Short stature, Pallor |
ORPHA:124 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| 2Q31.1 Microdeletion Syndrome |
|
Trigonocephaly, Microphthalmia, Short stature |
ORPHA:251014 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Short stature, Holoprosencephaly, Intrauterine growth retardation |
OMIM:146510 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor, Delayed puberty |
ORPHA:91347 |
| Microphthalmia, Lenz Type |
|
Microphthalmia, Short stature |
ORPHA:568 |
| Dubowitz Syndrome |
|
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine... |
OMIM:223370 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Cafe-au-lait spot, Oligohydramnios, Intrauterine growth retardation |
OMIM:608670 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Anencephaly, Severe hydrocephalus, Microphthalmia, Dandy-Walker malformation, Int... |
OMIM:236680 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia, Cafe-au-lait spot |
OMIM:300895 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia, Hypoplasia of the frontal bone |
ORPHA:306542 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Frontal bossing, Decreased calvarial ossification, Brachycephaly |
OMIM:617925 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Abnormal midbrain morphology, Delayed puberty |
ORPHA:293987 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida |
ORPHA:508498 |
| Atelis Syndrome 2 |
|
Microphthalmia, Frontal bossing |
OMIM:620185 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Severe short stature, Rhizomelia |
ORPHA:85167 |
| Holoprosencephaly 2 |
|
Proboscis, Alobar holoprosencephaly, Holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Mi... |
OMIM:157170 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Monosomy 9P |
|
Trigonocephaly, Calvarial skull defect, Microphthalmia, Brachycephaly |
ORPHA:261112 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Cockayne Syndrome |
|
Cerebellar atrophy, Severe short stature, Postnatal growth retardation, Growth delay, Delayed pub... |
ORPHA:191 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Dry skin, Intrauterine growth retardation |
OMIM:263650 |
| Orofaciodigital Syndrome Type 14 |
|
Trigonocephaly, Dilated fourth ventricle, Molar tooth sign on MRI, Dandy-Walker malformation |
ORPHA:434179 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia, Calvarial skull defect |
OMIM:100300 |
| Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Frontal bossing, Short stature |
OMIM:268400 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Abnormal brainstem morphology, Birth length less than 3rd percentile, Intrauterin... |
ORPHA:464311 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Hydrocephalus, Short stature |
OMIM:309801 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
| Pallister-Hall Syndrome |
|
Short stature, Scaphocephaly, Oligohydramnios, Umbilical hernia, Holoprosencephaly, Cerebellar hy... |
ORPHA:672 |
| Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:617666 |
| Roberts-Sc Phocomelia Syndrome |
|
Craniosynostosis, Polyhydramnios, Postnatal growth retardation, Hydrocephalus, Frontal encephaloc... |
OMIM:268300 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly |
OMIM:184705 |
| Semilobar Holoprosencephaly |
|
Short stature, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube... |
ORPHA:220386 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malfor... |
ORPHA:42775 |
| Alobar Holoprosencephaly |
|
Short stature, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube... |
ORPHA:93924 |
| Acro-Renal-Ocular Syndrome |
|
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... |
ORPHA:93325 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Severe short stature, Short stature |
OMIM:127000 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Fryns Syndrome |
|
Microphthalmia, Dandy-Walker malformation, Chylothorax, Polyhydramnios |
OMIM:229850 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
| Cockayne Syndrome Type 3 |
|
Microphthalmia, Mild postnatal growth retardation, Dense calcifications in the cerebellar dentate... |
ORPHA:90324 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia, Midface ... |
OMIM:619539 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Frontal bossing, Turricephaly, Brachycephaly, Prominent occiput, Palmoplantar erythema, Microphth... |
OMIM:612474 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Parietal foramina, Microphthalmia, Craniosynostosis |
OMIM:609945 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Midface retrusion |
OMIM:603457 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
| Witteveen-Kolk Syndrome |
|
Frontal bossing, Branchial fistula, Short stature, Polyhydramnios, Growth delay, Microphthalmia, ... |
OMIM:613406 |
| Schinzel-Giedion Syndrome |
|
Frontal bossing, Chiari type I malformation, Neural tube defect, Umbilical hernia, Midface retrusion |
ORPHA:798 |
| Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
| Renpenning Syndrome 1 |
|
Microphthalmia, Short stature, Brachycephaly |
OMIM:309500 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Holoprosencephaly |
ORPHA:3186 |
| Microphthalmia, Syndromic 1 |
|
Growth delay, Microphthalmia, Anophthalmia |
OMIM:309800 |
| Wiedemann-Rautenstrauch Syndrome |
|
Frontal bossing, Optic disc hypoplasia, Short stature, Hydrocephalus, Cranial asymmetry, Growth d... |
ORPHA:3455 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B... |
ORPHA:508488 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Short stature |
OMIM:259770 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| 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 |
|
Microphthalmia, Hydrocephalus |
OMIM:273395 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Delayed puberty, Aplasia/Hypoplasia of th... |
ORPHA:649 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Cerebellar atrophy |
OMIM:175780 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of cerebellar vermis, Short stature, Cerebellar vermis hypoplasia, Chiari type I malform... |
ORPHA:261537 |
| Townes-Brocks Syndrome |
|
Microphthalmia, Chiari malformation, Short stature, Delayed puberty |
ORPHA:857 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Frontal bossing, Agenesis of cerebellar vermis, Short stature, Cerebellar vermis hypoplasia, Chia... |
ORPHA:261552 |
| Mowat-Wilson Syndrome |
|
Agenesis of cerebellar vermis, Short stature, Cerebellar vermis hypoplasia, Growth delay, Microph... |
ORPHA:2152 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
| Mowat-Wilson Syndrome |
|
Microphthalmia, Short stature |
OMIM:235730 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
