| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
| Microphthalmia/Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cerebellar hypoplasia, Intrauterine growth retardation, Edema, Microphthalmia |
OMIM:616570 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum morphology, Turr... |
ORPHA:1532 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Cerebellar hypoplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia, Cra... |
ORPHA:1528 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
| Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Orbital encephalocele, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion |
OMIM:613885 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Meckel Syndrome, Type 4 |
|
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Mol... |
OMIM:611134 |
| Gombo Syndrome |
|
Delayed puberty, Microphthalmia |
OMIM:233270 |
| Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Frontal encephalocele, Microphthalmia, Craniosynostosis, Optic nerve hypop... |
OMIM:218670 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Albinism, Hypopigmentation of the skin, Pallor |
ORPHA:2786 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Intrauterine growth retardation, Cerebellar hypoplasi... |
OMIM:616171 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Intrauterine growth retardation, Molar tooth sign on MRI, Micropht... |
OMIM:615665 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Brachycephaly, Growth delay, Microphthalmia |
ORPHA:2528 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ... |
ORPHA:280195 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Short stature, Frontal bossing, Molar tooth sign on MRI |
ORPHA:166024 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Abnormal calvaria morphology, Microphthalmia |
ORPHA:2432 |
| Trisomy 13 |
|
Chiari malformation, Intrauterine growth retardation, Calvarial skull defect, Aplasia/Hypoplasia ... |
ORPHA:3378 |
| Meckel Syndrome 13 |
|
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:617562 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia,... |
OMIM:615181 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Coronal craniosynostosis, Intrauterine growth retardation, Oligohydramnios, Calvarial skull defec... |
ORPHA:228390 |
| 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 |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Hypoplasia of the brainstem, Microphthalmia |
OMIM:615771 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Flat occiput, Hypoplasia of the pons, Bicoronal synostosis, Brachyce... |
OMIM:618736 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Cerebellar malformation, Occipital encephalocele, Hydrocephalus, Microphthalmia |
ORPHA:324416 |
| Lissencephaly 8 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microphthalmia, Retr... |
OMIM:617255 |
| Hydrolethalus |
|
Anophthalmia, Hydrocephalus, Microphthalmia, Polyhydramnios, Anencephaly |
ORPHA:2189 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypop... |
OMIM:613155 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia |
ORPHA:1104 |
| Hartsfield Syndrome |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia, Craniosynostosis, Lobar holoprose... |
ORPHA:2117 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Multiple cafe-au-lait spots, Micro... |
OMIM:609054 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Frontal bossing, Dilated fourth ventricle, Cerebellar hypoplasia, Molar ... |
OMIM:614175 |
| Trisomy 1Q |
|
Increased nuchal translucency, Anophthalmia, Cerebellar hypoplasia, Hydrocephalus, Polyhydramnios... |
ORPHA:261344 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Peripheral edema, Pleural effusion, Oligohydramnios, Pallor, Per... |
ORPHA:60041 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
| Cofs Syndrome |
|
Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellum, Microphthalmia |
ORPHA:1466 |
| Joubert Syndrome 2 |
|
Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, Brainstem dysplasia, Encephaloc... |
OMIM:608091 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar cyst, Cereb... |
OMIM:613153 |
| Cleidocranial Dysplasia, Recessive Form |
|
Severe short stature, Brachycephaly |
OMIM:216330 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Encepha... |
OMIM:614424 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Hydrocephalus, Microphthalmia |
OMIM:614830 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Non-Distal Duplication 10Q |
|
Short stature, Brachycephaly, Frontal bossing, Aplasia/Hypoplasia affecting the eye |
ORPHA:1695 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal brainstem ... |
ORPHA:370959 |
| Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Intrauterine growth retardation, Occipital encephalocele, Molar to... |
OMIM:614815 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Joubert Syndrome 16 |
|
Dandy-Walker malformation, Encephalocele, Molar tooth sign on MRI |
OMIM:614465 |
| Craniosynostosis 6 |
|
Plagiocephaly, Cerebellar atrophy, Parietal foramina, Right unilambdoid synostosis, Bicoronal syn... |
OMIM:616602 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Growth delay, Frontal bossing, Molar tooth sign on MRI, Polyhydramn... |
OMIM:300804 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
| Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Anophthalmia, Spina bifida, Hydrocephalus, Microphthalmia, Polyh... |
ORPHA:3412 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Short stature, Cerebellar hypoplasia, Abnormality of skin pigmentation, Microphthalmia |
OMIM:251270 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:291 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia, B... |
OMIM:608027 |
| Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Proboscis, Postnatal growth retardation, Encephalocele, Anophthalmi... |
OMIM:605627 |
| Fanconi Anemia, Complementation Group I |
|
Chiari malformation, Intrauterine growth retardation, Pallor, Microphthalmia, Short stature, Cafe... |
OMIM:609053 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Microphthalmia, Short stature, Frontal bos... |
OMIM:619185 |
| Slc35A2-Cdg |
|
Abnormal midbrain morphology, Hypopigmentation of the skin, Cerebellar atrophy, Intrauterine grow... |
ORPHA:356961 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin, Pallor |
ORPHA:75563 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Dry skin, Brachycephaly, Cutis laxa, Abnormality of skin pigmentati... |
OMIM:612379 |
| Pierpont Syndrome |
|
Excessive wrinkling of palmar skin, Brachycephaly, Chiari malformation, Microphthalmia |
ORPHA:487825 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
| Hb Bart'S Hydrops Fetalis |
|
Oligohydramnios, Pallor, Hydrocephalus, Polyhydramnios, Hydrops fetalis |
ORPHA:163596 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Congenital Toxoplasmosis |
|
Ascites, Intrauterine growth retardation, Hydrocephalus, Microphthalmia |
ORPHA:858 |
| Joubert Syndrome 25 |
|
Cerebellar hypoplasia, Molar tooth sign on MRI |
OMIM:616781 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Dysgenesis of the cerebellar vermis, Hypoplasia of t... |
OMIM:617751 |
| Fanconi Anemia, Complementation Group G |
|
Multiple cafe-au-lait spots, Growth delay, Microphthalmia |
OMIM:614082 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Biemond Syndrome Type 2 |
|
Short stature, Delayed puberty, Hydrocephalus, Microphthalmia |
ORPHA:141333 |
| Cerebrooculonasal Syndrome |
|
Brachycephaly, Anophthalmia |
ORPHA:66625 |
| Joubert Syndrome 7 |
|
Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:611560 |
| Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Molar tooth sign on MRI |
OMIM:614120 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Atrophy/Degeneration affecting the brainstem |
OMIM:620200 |
| Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... |
OMIM:609583 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Microphthalmia, Holoprosencephaly, Growth delay |
ORPHA:77298 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Frontal bossing, Molar tooth sign on MRI |
OMIM:617757 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Hypermelanotic macule, Anophthalmia |
ORPHA:90322 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly, Dandy-W... |
OMIM:603194 |
| Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Cerebellar hypoplasia, Cerebellar calcifications, Microphthalmia, Short s... |
OMIM:606744 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Solitary Median Maxillary Central Incisor |
|
Short stature, Holoprosencephaly, Anophthalmia, Microphthalmia |
OMIM:147250 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Intrauterine growth retardation, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia... |
ORPHA:163966 |
| Pierpont Syndrome |
|
Short stature, Brachycephaly, Chiari malformation, Microphthalmia |
OMIM:602342 |
| Microphthalmia With Limb Anomalies |
|
Frontal bossing, Postnatal growth retardation, Anophthalmia, Microphthalmia, Growth delay |
OMIM:206920 |
| Crouzon Syndrome |
|
Chiari malformation, Hypopigmented skin patches, Multiple suture craniosynostosis, Melanocytic ne... |
ORPHA:207 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Abnormal cerebellar vermis mo... |
ORPHA:899 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Brachyturricephaly, Bilateral microphthalmos, Ethmoidal encephalocele, Hyperpigmented nevi, Front... |
OMIM:607597 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
| Cat-Eye Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:195 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Melanocytic nevus, Craniosynostosis, Hydrocephalus |
OMIM:612247 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor |
OMIM:613561 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:617127 |
| Frontonasal Dysplasia 2 |
|
Cerebellar vermis hypoplasia, Parietal foramina, Intrauterine growth retardation, Oligohydramnios... |
OMIM:613451 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Intrauterine growth retardation, Hydrocephalus, Microphthalmia, Short stature, Fronta... |
OMIM:300863 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Cerebellar vermis atrophy, Abnormal pons morphology, Bilateral microphthalmos, Atrophy/Degenerati... |
ORPHA:77299 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Anophthalmia, Microphthalmia |
ORPHA:139471 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Cerebellar hypoplasia, Plagiocephaly, Hypoplasia of the pons |
OMIM:607313 |
| Linear Nevus Sebaceus Syndrome |
|
Irregular hyperpigmentation, Plagiocephaly, Frontal bossing, Melanocytic nevus, Prominent occiput... |
ORPHA:2612 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Microphthalmia, Platybasia, Frontal bossing, Cloverleaf skull |
ORPHA:93267 |
| Bresek Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Hydrocephalus, Microphthalmia, Growth delay, Opti... |
ORPHA:85284 |
| 2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Umbilical hernia, Aniridia, Anophthalmia, Dolichocephaly |
ORPHA:1101 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Adenylosuccinate Lyase Deficiency |
|
Brachycephaly, Flat occiput |
ORPHA:46 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Warburg Micro Syndrome 1 |
|
Short stature, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Microphthalmia |
OMIM:600118 |
| Joubert Syndrome 30 |
|
Dandy-Walker malformation, Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on... |
OMIM:617622 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Al-Gazali-Bakalinova Syndrome |
|
Frontal bossing, Molar tooth sign on MRI, Lymphedema |
OMIM:607131 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI |
OMIM:619111 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Thickened calvaria, Craniosynostosis, Brachycephaly |
ORPHA:178377 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the brainstem, Dry skin, Dilat... |
OMIM:619306 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Hydrocephalus, Dolichocephaly |
ORPHA:272 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Dysgenesis of the cerebellar vermis, Hypoplasia of t... |
OMIM:213300 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Brachycephaly |
OMIM:300699 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Growth delay, Microphthalmia |
OMIM:308350 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Short stature, Brachycephaly, Intrauterine growth retardation, Umbilical hernia |
OMIM:615834 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:3469 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Intrauterine growth retardation, Oligohydramnios, Turricephaly, Brachycephaly, Short stature, Cra... |
ORPHA:2145 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Brachycephaly, Plagiocephaly, Flat occiput |
ORPHA:2898 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Postnatal growth retardation, Brachycephaly |
OMIM:309545 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Chiari malformation, Umbilical hernia, Turricephaly, Brachycephaly, Hydrocephalus, Craniosynostosis |
ORPHA:171839 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Anophthalmia, Elongated supe... |
OMIM:615636 |
| Microphthalmia, Syndromic 13 |
|
Short stature, Microphthalmia |
OMIM:300915 |
| Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Brachyturricephaly, Encephalocele, Polyhydramnios, Short stature |
ORPHA:314621 |
| Joubert Syndrome 27 |
|
Frontal bossing, Molar tooth sign on MRI |
OMIM:617120 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Hypoplasia of the brainstem |
OMIM:614563 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Dysgenesis of the cerebellar vermis, Rhizo... |
ORPHA:397715 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Plagiocephaly |
ORPHA:459074 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
| Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Chiari type I malformation, Brachycephaly, Hydrocephalus, Short stature, Abno... |
OMIM:218350 |
| Achondrogenesis, Type Ii |
|
Abnormally large globe, Disproportionate short-limb short stature, Brachycephaly, Disproportionat... |
OMIM:200610 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Polyhydramnios, Frontal bossing, Microphthalmia |
ORPHA:2547 |
| Holoprosencephaly |
|
Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the cere... |
ORPHA:2162 |
| Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Biparietal n... |
ORPHA:2318 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Short stature, Microphthalmia |
OMIM:610023 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Trigonocephaly, Macular hypoplasia... |
OMIM:613792 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Brachycephaly, Occipital encephalocele |
OMIM:614416 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Monosomy 18P |
|
Lymphedema, Brachycephaly, Microphthalmia, Short stature, Holoprosencephaly |
ORPHA:1598 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:48431 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Short stature, Brachycephaly, Cerebellar atrophy |
ORPHA:320385 |
| Aminopterin Syndrome Sine Aminopterin |
|
Umbilical hernia, Intrauterine growth retardation, Brachycephaly, Short stature, Frontal bossing |
OMIM:600325 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Polyhydramnios, Rhizomelic arm shortening, Abnormally large globe, Posterior plagiocephaly |
ORPHA:96190 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly |
ORPHA:35099 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Biparietal n... |
ORPHA:220497 |
| Microphthalmia, Syndromic 5 |
|
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Chylothorax, Skin ulcer, Lymphedema, Dry skin, Pleural effusion, Anophthalm... |
ORPHA:2526 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Short stature, Growth delay, Pallor |
OMIM:615631 |
| Coach Syndrome 1 |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Aplasia/Hypoplasia of the cerebellar vermi... |
OMIM:216360 |
| Adams-Oliver Syndrome 2 |
|
Oligohydramnios, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Retrocerebellar cyst |
OMIM:614219 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Chiari malformation, Turricephaly, Brachycephaly, Aplasia/Hypoplasia of the cerebellum, Hydroceph... |
ORPHA:93262 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Irregular hyperpigmentation, Umbilical hernia, Microphthalmia, Short stature, Edema |
ORPHA:2505 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Melanocytic nevus, Brachycephaly, Spina bifida, Short stature |
ORPHA:1327 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Cerebellar dysplasia, Encephalocele, Cerebellar hypoplasia, Partial ... |
OMIM:613150 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Frontal bossing, Microphthalmia |
ORPHA:1438 |
| Meckel Syndrome |
|
Oligohydramnios, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Hydrocephalus, Micr... |
ORPHA:564 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Cerebellar atrophy, Abnormal brainstem morphology, Intrauterine growth retardation, Pallor, Cereb... |
OMIM:301310 |
| Joubert Syndrome 6 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su... |
OMIM:610688 |
| Gomez-Lopez-Hernandez Syndrome |
|
Cerebellar vermis hypoplasia, Skull asymmetry, Fusion of the cerebellar hemispheres, Turricephaly... |
OMIM:601853 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Chiari type I malformation, Brachycephaly |
OMIM:618859 |
| Fibular Hemimelia |
|
Craniosynostosis, Spina bifida, Anophthalmia |
ORPHA:93323 |
| Baraitser-Winter Syndrome 2 |
|
Short stature, Trigonocephaly, Microphthalmia |
OMIM:614583 |
| Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Biparietal n... |
ORPHA:220493 |
| 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 |
| Temtamy Syndrome |
|
Dolichocephaly, Microphthalmia |
ORPHA:1777 |
| Craniodigital-Intellectual Disability Syndrome |
|
Short stature, Spina bifida occulta, Brachycephaly |
ORPHA:1514 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia |
OMIM:136760 |
| Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI |
OMIM:618161 |
| Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology |
ORPHA:206448 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:264470 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Occipital meningocele, Hydrocephalus, ... |
OMIM:616546 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology, Growth delay |
ORPHA:411493 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Plagiocephaly, Hypoplasia of the brainstem, Umbilical hernia, Cerebellar dysplasia, Cerebellar hy... |
ORPHA:500159 |
| Menkes Disease |
|
Hypopigmentation of the skin, Intrauterine growth retardation, Brachycephaly, Cutis laxa, Short s... |
OMIM:309400 |
| Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling, Microphthalmia |
OMIM:601349 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI |
OMIM:608629 |
| Sporadic Fetal Brain Disruption Sequence |
|
Plagiocephaly, Prominent occiput |
ORPHA:1665 |
| Frontofacionasal Dysplasia |
|
Short stature, Brachycephaly, Encephalocele, Microphthalmia |
ORPHA:1791 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis |
OMIM:266200 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Alkuraya-Kucinskas Syndrome |
|
Plagiocephaly, Hypoplasia of the brainstem, Cerebellar dysplasia, Pleural effusion, Cerebellar hy... |
OMIM:617822 |
| Cornelia De Lange Syndrome 2 |
|
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly |
OMIM:300590 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Parietal foramina, Turricephaly |
OMIM:601224 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Delayed puberty, Parietal foramina |
ORPHA:52022 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... |
ORPHA:370022 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Cerebral edema, Facial erythema, Pallor |
ORPHA:439218 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Sh... |
OMIM:601186 |
| Alg3-Cdg |
|
Hypopigmentation of the skin, Dandy-Walker malformation, Hypoplasia of the pons, Neural tube defect |
ORPHA:79321 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Cerebellar hypoplasia, Pallor |
OMIM:613839 |
| Neurooculocardiogenitourinary Syndrome |
|
Abnormal cerebellum morphology, Redundant neck skin, Microphthalmia |
OMIM:618652 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
| Congenital Rubella Syndrome |
|
Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor, Cafe-au-lait spot |
OMIM:615234 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydrocephalus, Agenesis of cerebella... |
ORPHA:163961 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Plagiocephaly, Hypopigmented skin patches, Brachycephaly, Hydrocephalus... |
ORPHA:53271 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Plagiocephaly, Bilateral microphthalmos, Umbilical hernia, Brachycephaly, Short stature |
ORPHA:369891 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Dolichocephaly, Brachycephaly, Alobar holoprosencephaly, Plagiocephaly |
OMIM:615433 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Increased nuchal translucency, Brachycephaly, Polyhydramnios, Short stature |
OMIM:618862 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Prominent occiput, Microphthalmia, Polyhydramnios, Growth delay, Da... |
OMIM:616920 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Hypermelanotic macule, Anophthalmia |
ORPHA:90321 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Polyhydramnios, Plagiocephaly |
ORPHA:521390 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microphthalmia, Short stature, F... |
OMIM:206900 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Lymphedema |
ORPHA:3226 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia,... |
OMIM:614643 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Postnatal growth retardation, Intrauterine growth retardation, Micr... |
ORPHA:494344 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:602501 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Hydrocephalus, Unilambdoid synostosis |
OMIM:618577 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Frontal bossing, Microphthalmia |
ORPHA:2788 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Unicoronal synostosis, Encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI,... |
OMIM:616300 |
| American Trypanosomiasis |
|
Periorbital edema, Pallor, Edema |
ORPHA:3386 |
| Malan Overgrowth Syndrome |
|
Plagiocephaly, Optic disc hypoplasia, Hypoplasia of the brainstem, Scaphocephaly, Frontal bossing |
ORPHA:420179 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar hypoplasia, Cerebellar atrophy, Dehydration, Microphthalmia |
OMIM:214150 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly |
OMIM:615419 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Cranial asymmetry, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Nonimmune hydrops fetalis, Short... |
OMIM:618265 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microphthalmia, Short stature, Mild short stature, Optic nerve hypoplasia |
OMIM:614833 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Brachycephaly, Intrauterine growth retardation |
OMIM:620688 |
| Frontonasal Dysplasia 3 |
|
Brachycephaly, Microphthalmia |
OMIM:613456 |
| Marden-Walker Syndrome |
|
Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Postnatal growth retardation,... |
OMIM:248700 |
| Microcephaly-Micromelia Syndrome |
|
Intrauterine growth retardation, Oligohydramnios, Microphthalmia, Aqueductal stenosis, Craniosyno... |
OMIM:251230 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cerebellar hypoplasia, Microphthalmia |
OMIM:613730 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Charge Syndrome |
|
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Anophthalmia, Ap... |
ORPHA:138 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Umbilical hernia, Intrauterine growth retardation, Brachycephaly, Cutis laxa, Short stature, Fron... |
OMIM:219150 |
| Sandestig-Stefanova Syndrome |
|
Trigonocephaly, Intrauterine growth retardation, Microphthalmia |
OMIM:618804 |
| Cebalid Syndrome |
|
Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly |
OMIM:618774 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Cerebellar hypoplasia, Microphthalmia, Short stature, Optic nerv... |
OMIM:617914 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Trigonocephaly, Cerebellar hypoplasia, Microphthalmia, Short stature, Dolichocephaly, Holoprosenc... |
OMIM:612530 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Intrauterine growth retardation, Growth delay, Microphthalmia |
OMIM:610756 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Stevenson-Carey Syndrome |
|
Cerebellar hypoplasia, Brachycephaly, Microphthalmia |
OMIM:611961 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Severe postnatal growth retardation, Brachycephaly, Microphthalmia, Short sta... |
OMIM:615663 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ascites, Intrauterine growth retardation, Pleural effusion, Cerebellar hypoplasia, Brachycephaly,... |
OMIM:616897 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Houge-Janssens Syndrome 3 |
|
Hypoplasia of the brainstem, Frontal bossing, Plagiocephaly, Umbilical hernia |
OMIM:618354 |
| Galloway-Mowat Syndrome 1 |
|
Hypopigmentation of the skin, Cerebellar atrophy, Hypoplasia of the iris, Hypoplasia of the brain... |
OMIM:251300 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Short stature, Frontal bossing, Generalized hypopigmentation, Microphthalmia |
OMIM:617306 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Brachycephaly |
OMIM:615031 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Cerebellar hypoplasia, Brachycephaly |
ORPHA:352530 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Erythema, Hypopigmented skin patches, Anophthalmia, Hyperpigmentation of th... |
ORPHA:2556 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology, Abnormal cerebellum morphology |
ORPHA:255182 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short stature, Microphthalmia |
OMIM:300887 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Pallor, Growth delay |
OMIM:600462 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Scaphocephaly, Oligohydramnios, Plagiocephaly |
ORPHA:1143 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Brachycephaly, Frontal bossing |
OMIM:617364 |
| Kleefstra Syndrome 2 |
|
Plagiocephaly, Growth delay |
OMIM:617768 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Trigonocephaly, Encephalocele, Anencephaly, Brachycephaly, Microphthalmia, Short stature, Cafe-au... |
OMIM:619148 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Flat occiput, Lymphedema |
OMIM:152950 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Frontal bossing, Anterior plagiocephaly, Microphthalmia |
ORPHA:163649 |
| Band Heterotopia |
|
Plagiocephaly, Hydrocephalus |
OMIM:600348 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Brachycephaly, Intrauterine growth retardation, Plagiocephaly, Frontal bossing |
OMIM:616801 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Oligohydramnios, Prominent occiput, Spina bifida, Microphthalmia... |
ORPHA:99776 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Short stature, Plagiocephaly, Frontal bossing |
OMIM:618330 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Short stature, Brachycephaly |
OMIM:309541 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Growth delay, Frontal bossing, Ascites, Intrauterine growth retardation, Increased nuchal translu... |
ORPHA:1052 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Plagiocephaly, Growth delay, Anophthalmia, Microphthalmia, Frontal bossing |
ORPHA:2538 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Cerebellar malformation, Cerebellar dysplas... |
OMIM:236670 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Abnormally large globe, Plagiocephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Postn... |
OMIM:300749 |
| Primary Myelofibrosis |
|
Purpura, Petechiae, Pallor, Ecchymosis |
ORPHA:824 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia,... |
OMIM:253800 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cerebellar hypoplasia, Microphthalmia |
OMIM:618805 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida occulta, Microphthalmia |
OMIM:169550 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Pentasomy X |
|
Short stature, Plagiocephaly, Delayed puberty |
ORPHA:11 |
| Trisomy 18 |
|
Growth delay, Chiari malformation, Intrauterine growth retardation, Oligohydramnios, Prominent oc... |
ORPHA:3380 |
| German Syndrome |
|
Short stature, Dolichocephaly, Brachycephaly, Lymphedema |
ORPHA:2077 |
| Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Growth delay, Hydrocephalus, Microphthalmia |
OMIM:617244 |
| Fetal Alcohol Syndrome |
|
Short stature, Intrauterine growth retardation, Biparietal narrowing, Microphthalmia |
ORPHA:1915 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hypoplasia of th... |
OMIM:610828 |
| Cerebellar-Facial-Dental Syndrome |
|
Severe short stature, Abnormal midbrain morphology, Infancy onset short-trunk short stature, Infe... |
ORPHA:444072 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Plagiocephaly, Brachycephaly, Short stature, Cloverleaf skull |
OMIM:602849 |
| Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:619562 |
| Curry-Jones Syndrome |
|
Unicoronal synostosis, Bicoronal synostosis, Chiari type I malformation, Lipomyelomeningocele, Mi... |
OMIM:601707 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Dolichocephaly, Brachycephaly, Plagiocephaly, Prominent occiput |
OMIM:618672 |
| Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Prominent occiput, Brachycephaly, Hydrocephalus, Dandy-Walker ma... |
OMIM:220210 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Chiari malformation, Intrauterine growth retardation, Large placenta, Ol... |
OMIM:249000 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
| Focal Dermal Hypoplasia |
|
Hypopigmentation of the skin, Chiari malformation, Umbilical hernia, Myelomeningocele, Aniridia, ... |
OMIM:305600 |
| Trichothiodystrophy 3, Photosensitive |
|
Short stature, Trigonocephaly, Intrauterine growth retardation, Microphthalmia |
OMIM:616395 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing |
OMIM:619264 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short stature, Brachycephaly, Anophthalmia, Optic nerve aplasia |
ORPHA:264200 |
| Dominant Beta-Thalassemia |
|
Skin ulcer, Frontal bossing, Pallor, Hyperpigmentation of the skin, Delayed puberty, Growth delay |
ORPHA:231226 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Skin ulcer, Abnormality of skin pigmentation, Microphthalmia |
ORPHA:1806 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Fumarase Deficiency |
|
Hypoplasia of the brainstem, Ascites, Pallor, Polyhydramnios, Frontal bossing |
OMIM:606812 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal craniosynost... |
ORPHA:459061 |
| Hallermann-Streiff Syndrome |
|
Dry skin, Thin calvarium, Scaphocephaly, Proportionate short stature, Parietal bossing, Brachycep... |
OMIM:234100 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Lymphedema |
ORPHA:79279 |
| Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Intrauterine growth retardation, Oligohydramnios, Microphthalmia, Short statu... |
OMIM:617729 |
| Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Anemic pallor, Hyperpigmentation of the skin, Microphthalmia, Sh... |
OMIM:227645 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:261272 |
| Incontinentia Pigmenti |
|
Erythema, Pallor, Hypoplasia of the fovea, Abnormality of skin pigmentation, Microphthalmia, Shor... |
OMIM:308300 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Oligohydramnios, Increased nuchal translucency, Microphthalmia |
OMIM:618494 |
| Histiocytoid Cardiomyopathy |
|
Cerebellar malformation, Pallor, Pulmonary edema, Hydrocephalus, Congenital aphakia, Microphthalmia |
ORPHA:137675 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Skin ulcer, Abnormal cerebel... |
ORPHA:68 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Increased nuchal translucency, Plagiocephaly |
ORPHA:77300 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Anophthalmia, Microphthalmia |
OMIM:615877 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly, Cerebellar atrophy |
OMIM:618008 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Brachycephaly, Rieger anomaly, Hydrocephalus |
OMIM:109120 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Short stature, Craniosynostosis, Brachycephaly, Frontal bossing |
ORPHA:314575 |
| Japanese Encephalitis |
|
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Pulmonary edema, Cerebral ede... |
ORPHA:79139 |
| Gracile Bone Dysplasia |
|
Ascites, Aniridia, Hydrocephalus, Microphthalmia, Short stature |
OMIM:602361 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Short stature, Spina bifida occulta, Brachycephaly, Palmoplantar cutis laxa |
OMIM:268850 |
| Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth sign on MRI, Sho... |
OMIM:619476 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Ascites, Brachycephaly, Pericardial effusion, Hydrops fetalis, Frontal bossing |
OMIM:608776 |
| Galloway-Mowat Syndrome 4 |
|
Short stature, Hypermelanotic macule, Plagiocephaly, Cerebellar hypoplasia |
OMIM:617730 |
| Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Hyperpigmentation of the skin, Microphthalmia, Short stature, Cafe-au-lait spot |
OMIM:600901 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Buphthalmo... |
ORPHA:370997 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Plagiocephaly, Intrauterine growth retardation, Prominent occiput, Redundant neck skin, Polyhydra... |
OMIM:617360 |
| Pseudodiastrophic Dysplasia |
|
Severe short stature, Brachycephaly, Rhizomelia, Frontal bossing |
OMIM:264180 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the brainstem, Cerebellar dysplasia, Pallor, Hypoplasia of the retina, Cerebellar h... |
OMIM:253280 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Short stature, Brachycephaly |
ORPHA:93950 |
| Even-Plus Syndrome |
|
Severe short stature, Brachycephaly, Oligohydramnios |
OMIM:616854 |
| Curry-Jones Syndrome |
|
Craniosynostosis, Hypopigmented skin patches, Microphthalmia |
ORPHA:1553 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly, Cerebellar atrophy |
OMIM:617481 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Clark-Baraitser Syndrome |
|
Dolichocephaly, Brachycephaly |
OMIM:617752 |
| Fg Syndrome Type 1 |
|
Plagiocephaly, Umbilical hernia, Facial wrinkling, Abnormal cerebellum morphology, Prominent occi... |
ORPHA:93932 |
| Adams-Oliver Syndrome |
|
Ascites, Calvarial skull defect, Encephalocele, Hydrocephalus, Microphthalmia |
ORPHA:974 |
| Baraitser-Winter Syndrome 1 |
|
Short stature, Postnatal growth retardation, Trigonocephaly, Microphthalmia |
OMIM:243310 |
| Spondylo-Ocular Syndrome |
|
Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp... |
ORPHA:85194 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Abnormality of skin pigmentation, Microphthalmia, Short stature, Cafe-au-lait spot |
OMIM:227650 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Inferior cerebellar vermis hypoplasia, Microphthalmia, Short stature, Dolichocephaly, Frontal bos... |
OMIM:618571 |
| Williams-Beuren Region Duplication Syndrome |
|
Short stature, Cerebellar vermis hypoplasia, Brachycephaly, Hydrocephalus |
OMIM:609757 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cerebellar hypoplasia, Plagiocephaly |
OMIM:618731 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Intrauterine growth retardation, Abnormal cerebellum morphology, De... |
ORPHA:2510 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal brainstem morphology, Cerebellar atrophy, Hypoplasia of the pons |
ORPHA:300573 |
| Holoprosencephaly 9 |
|
Alobar holoprosencephaly, Anophthalmia, Hydrocephalus, Microphthalmia, Short stature, Holoprosenc... |
OMIM:610829 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| 9P13 Microdeletion Syndrome |
|
Umbilical hernia, Dry skin, Brachycephaly, Short stature, Cafe-au-lait spot |
ORPHA:324313 |
| Cooper-Jabs Syndrome |
|
Short stature, Brachycephaly, Frontal bossing, Umbilical hernia |
ORPHA:1488 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly |
OMIM:618725 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Oligohydramnios, Increased nuchal translucency, Decreased calvarial ossi... |
OMIM:619879 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Cranios... |
OMIM:604757 |
| Grant Syndrome |
|
Short stature, Brachycephaly, Frontal bossing |
ORPHA:2097 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Linear hyperpigmentation, Cerebellar hypoplasia, Hydrocephalus, Microphth... |
OMIM:613001 |
| Arima Syndrome |
|
Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brainstem, Brainstem dysplasia, Dil... |
OMIM:243910 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Laurence-Moon Syndrome |
|
Short stature, Brachycephaly |
ORPHA:2377 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Dolichocephaly, Microphthalmia |
OMIM:167730 |
| Garg-Mishra Progeroid Syndrome |
|
Short stature, Postnatal growth retardation, Cafe-au-lait spot, Microphthalmia |
OMIM:620601 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Fanconi Anemia, Complementation Group F |
|
Intrauterine growth retardation, Hyperpigmentation of the skin, Microphthalmia, Polyhydramnios, S... |
OMIM:603467 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Brachycephaly, Short stature,... |
ORPHA:1292 |
| Cornelia De Lange Syndrome 5 |
|
Short stature, Postnatal growth retardation, Brachycephaly |
OMIM:300882 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, Postnatal growth retardation, Intrauterine growth retardation, Brachyceph... |
OMIM:612513 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Plagiocephaly, Intrauterine growth retardation, Hydrocephalus, Polyhydramnios, Short stature |
OMIM:619833 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Short stature, Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Craniofrontonasal Dysplasia |
|
Craniosynostosis, Brachycephaly, Plagiocephaly, Frontal bossing |
ORPHA:1520 |
| Prune1-Related Neurological Syndrome |
|
Plagiocephaly, Cerebellar atrophy |
ORPHA:544469 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Myelomeningocele, Calvarial skull defect, Encephalocele, Anophthalmia, ... |
OMIM:219000 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Beta-Thalassemia Major |
|
Skin ulcer, Frontal bossing, Pallor, Hyperpigmentation of the skin, Delayed puberty, Growth delay |
ORPHA:231214 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Brachycephaly, Flat occiput |
ORPHA:2511 |
| Beta-Ketothiolase Deficiency |
|
Pallor, Dehydration, Edema |
ORPHA:134 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Flat occiput, Hypoplasia of the brainstem, Postnatal... |
ORPHA:300570 |
| Bartsocas-Papas Syndrome 2 |
|
Prominent occiput, Microphthalmia |
OMIM:619339 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Plagiocephaly, Brachycephaly, Short stature, Dolichocephaly, Frontal bossing |
OMIM:619721 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, Plagiocephaly |
OMIM:618603 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Plagiocephaly, Umbilical hernia, Cerebellar hypoplasia, Brachycephaly, Short stature |
ORPHA:261652 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Waldenström Macroglobulinemia |
|
Pallor, Pleural effusion, Periorbital edema, Purpura, Pedal edema |
ORPHA:33226 |
| Summitt Syndrome |
|
Craniosynostosis, Plagiocephaly |
ORPHA:3210 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postnatal growth retardation, Dandy-Walker malformation, Microphthalmia, Polyhydramni... |
OMIM:302960 |
| Noonan Syndrome With Multiple Lentigines |
|
Multiple lentigines, Intrauterine growth retardation, Melanocytic nevus, Excessive wrinkled skin,... |
ORPHA:500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Microphthalmia, Buphthalmos, Cerebellar cyst |
OMIM:616538 |
| Noonan Syndrome 13 |
|
Plagiocephaly, Lymphedema, Multiple lentigines, Dry skin, Cafe-au-lait spot |
OMIM:619087 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Postnatal growth retardation, Frontal bossing, Severe intrauterine growth retarda... |
OMIM:241410 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Fetal Trimethadione Syndrome |
|
Brachycephaly, Intrauterine growth retardation |
ORPHA:1913 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
| Coffin-Siris Syndrome 6 |
|
Short stature, Plagiocephaly, Frontal bossing |
OMIM:617808 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor, Cafe-au-lait spot |
ORPHA:300298 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Microphthalmia |
OMIM:614105 |
| 19P13.13 Microdeletion Syndrome |
|
Increased nuchal translucency, Chiari type I malformation, Brachycephaly, Dolichocephaly, Cafe-au... |
ORPHA:357001 |
| 2Q32Q33 Microdeletion Syndrome |
|
Short stature, Brachycephaly, Growth delay |
ORPHA:251019 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Frontal bossing, Biparietal narrowing, Molar tooth sign on MRI, Sho... |
ORPHA:2754 |
| 6Q25 Microdeletion Syndrome |
|
Short stature, Plagiocephaly |
ORPHA:251056 |
| Temtamy Syndrome |
|
Frontal bossing, Microphthalmia |
OMIM:218340 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Short stature, Brachycephaly |
ORPHA:1387 |
| Recombinant Chromosome 8 Syndrome |
|
Postnatal growth retardation, Brachycephaly, Growth delay |
OMIM:179613 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Scaling skin, Microphthalmia, Short stature, Frontal bossing |
ORPHA:35173 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Plagiocephaly, Chiari malformation, Hypoplasia of the pons, Frontal bossing |
OMIM:619293 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Intrauterine growth retardation, Cerebellar hypoplasia, Bilateral microphthalmos |
OMIM:610758 |
| Myoclonic-Astatic Epilepsy |
|
Premature skin wrinkling, Microphthalmia |
ORPHA:1942 |
| Incontinentia Pigmenti |
|
Erythema, Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Umbilical hernia, ... |
ORPHA:464 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Microphthalmia |
ORPHA:3191 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Agenesi... |
OMIM:610188 |
| Isolated Posterior Meningocele |
|
Hydromyelia, Chiari malformation, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital men... |
ORPHA:268810 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Brachycephaly, Intrauterine growth retardation |
OMIM:618142 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Moebius Syndrome |
|
Hypoplasia of the brainstem, Microphthalmia |
OMIM:157900 |
| Sepsis In Premature Infants |
|
Pallor, Purpura, Petechiae, Edema |
ORPHA:90051 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Scaphocephaly, Hydrocephalus, Cranial asymmetry, Short stature, Growth delay |
OMIM:614886 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly |
ORPHA:94066 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Plagiocephaly |
OMIM:618821 |
| Lessel-Kreienkamp Syndrome |
|
Scaphocephaly, Plagiocephaly, Frontal bossing |
OMIM:619149 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
| Chopra-Amiel-Gordon Syndrome |
|
Short stature, Postnatal growth retardation, Brachycephaly |
OMIM:619504 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Umbilical hernia, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Polyhydram... |
ORPHA:2166 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, Pallor |
OMIM:617675 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Severe short stature, Facial hyperostosis, Thickened calvaria, Brachycephaly, Spina bifida occult... |
ORPHA:2780 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Short stature, Cerebellar atrophy, Freckling, Microphthalmia |
OMIM:610651 |
| Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Brachycephaly, Microphthalmia |
OMIM:614222 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal brainstem morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia |
ORPHA:467166 |
| 8Q12 Microduplication Syndrome |
|
Brachycephaly |
ORPHA:228399 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Short stature, Brachycephaly, Intrauterine growth retardation, Flat occiput |
OMIM:617452 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Cerebellar atrophy, Microphthalmia |
OMIM:301108 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Oligohydramnios, Microphthalmia |
OMIM:619053 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Short stature, Craniosynostosis, Holoprosencephaly |
ORPHA:2163 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Brachycephaly, Hydrocephalus, Frontal bossing, Dandy-Walker malformation |
OMIM:612582 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Microphthalmia, Syndromic 2 |
|
Umbilical hernia, Anophthalmia, Phthisis bulbi, Microphthalmia, Short stature, Dandy-Walker malfo... |
OMIM:300166 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Frontal bossing |
OMIM:615085 |
| Frontorhiny |
|
Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia |
ORPHA:391474 |
| Acromelic Frontonasal Dysplasia |
|
Brachycephaly, Meningocele, Retrocerebellar cyst, Encephalocele |
ORPHA:1827 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Severe postnatal growth retardation, Dolichocephaly, Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Posterior plagiocephaly |
OMIM:619927 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Plagiocephaly, Umbilical hernia, Oligohydramnios, Turricephaly, Brachycephaly, Hydrocephalus, Spi... |
OMIM:613776 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Orofaciodigital Syndrome Vi |
|
Short stature, Cerebellar vermis hypoplasia, Occipital meningocele, Molar tooth sign on MRI |
OMIM:277170 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
| Desanto-Shinawi Syndrome |
|
Brachycephaly |
OMIM:616708 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Fraser Syndrome |
|
Umbilical hernia, Myelomeningocele, Calvarial skull defect, Encephalocele, Anophthalmia, Micropht... |
ORPHA:2052 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Short stature, Intrauterine growth retardation, Plagiocephaly, Frontal bossing |
ORPHA:371364 |
| De Barsy Syndrome |
|
Cerebellar vermis hypoplasia, Umbilical hernia, Postnatal growth retardation, Intrauterine growth... |
ORPHA:2962 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly |
OMIM:615761 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Dehydration, Edema |
ORPHA:20 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Generalized h... |
ORPHA:2720 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Cerebellar vermis atrophy, Brachycephaly, Dandy-Walker malformation, Microphthalmia |
OMIM:156610 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Short stature, Plagiocephaly |
OMIM:618089 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Brachycephaly, Microphthalmia |
ORPHA:404440 |
| Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph... |
ORPHA:98755 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Short stature, Brachycephaly, Intrauterine growth retardation, Flat occiput |
ORPHA:505237 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Brachycephaly |
ORPHA:70472 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Proboscis Lateralis |
|
Proboscis, Anophthalmia, Microphthalmia, Holoprosencephaly, Optic nerve hypoplasia |
ORPHA:141099 |
| Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... |
OMIM:278000 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Dehydration |
OMIM:246450 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Holoprosencephaly |
OMIM:264480 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Hydrocephalus, Abnormality of skin pigmentation, Microphthalmia, Short stature, Ca... |
OMIM:227646 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly |
OMIM:619972 |
| Al Kaissi Syndrome |
|
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly |
OMIM:617694 |
| Ritscher-Schinzel Syndrome 4 |
|
Plagiocephaly, Cerebellar hypoplasia, Brachycephaly, Short stature, Dandy-Walker malformation |
OMIM:619435 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:616789 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Bilateral microphthalmos, Mesomelic/rhizomelic limb shortening, Neonatal short-t... |
ORPHA:2839 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Brachycephaly, Optic nerve hypoplasia |
OMIM:618828 |
| Microphthalmia, Syndromic 6 |
|
Lambdoidal craniosynostosis, Inferior cerebellar vermis hypoplasia, Plagiocephaly, Anophthalmia, ... |
OMIM:607932 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| 2Q23.1 Microdeletion Syndrome |
|
Short stature, Brachycephaly, Growth delay |
ORPHA:228402 |
| 19P13.12 Microdeletion Syndrome |
|
Brachycephaly, Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellar vermis, Cran... |
ORPHA:254346 |
| Degcags Syndrome |
|
Hypopigmentation of the skin, Plagiocephaly, Intrauterine growth retardation, Pallor, Abnormality... |
OMIM:619488 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Brachycephaly, Oligohydramnios |
OMIM:263210 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Plagiocephaly |
OMIM:615516 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Brachycephaly, Frontal bossing |
OMIM:615828 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Growth delay, Edema |
ORPHA:329971 |
| Monosomy 9Q22.3 |
|
Chiari malformation, Umbilical hernia, Trigonocephaly, Hydrocephalus, Microphthalmia |
ORPHA:77301 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly |
OMIM:615985 |
| Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Brachycephaly, Microphthalmia |
OMIM:614225 |
| Distal Deletion 10Q |
|
Inferior cerebellar vermis hypoplasia, Postnatal growth retardation, Cerebellar hypoplasia, Brach... |
ORPHA:96148 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Increased nuchal translucency, Cerebellar hypoplasia, Microphthalmi... |
ORPHA:1692 |
| Fanconi Anemia, Complementation Group S |
|
Short stature, Microphthalmia |
OMIM:617883 |
| Pde4D Haploinsufficiency Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Thickened calvaria, Brachycephaly,... |
ORPHA:439822 |
| Microphthalmia With Limb Anomalies |
|
True anophthalmia, Hydrocephalus, Microphthalmia, Short stature, Frontal bossing |
ORPHA:1106 |
| Fanconi Anemia |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Umbilical hernia, Frontal bossing, Intra... |
ORPHA:84 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Sagittal ... |
OMIM:201000 |
| Trichothiodystrophy 1, Photosensitive |
|
Short stature, Dry skin, Freckling, Microphthalmia |
OMIM:601675 |
| Chromosome 5P13 Duplication Syndrome |
|
Craniosynostosis, Brachycephaly, Frontal bossing, Turricephaly |
OMIM:613174 |
| Branchiooculofacial Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Anophthalmia, M... |
OMIM:113620 |
| 2P15P16.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Cerebellar hypoplasia, Brachycephaly, Polyhydramnios, Growth del... |
ORPHA:261349 |
| Fanconi Anemia, Complementation Group L |
|
Growth delay, Intrauterine growth retardation, Cerebellar hypoplasia, Hydrocephalus, Microphthalm... |
OMIM:614083 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Spina bifida occulta, Plagiocephaly, Cafe-au-lait spot |
OMIM:619227 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia |
ORPHA:2728 |
| Rodrigues Blindness |
|
Short stature, Microphthalmia |
OMIM:268320 |
| Cockayne Syndrome B |
|
Severe short stature, Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth r... |
OMIM:133540 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Brachycephaly, Frontal bossing |
OMIM:615539 |
| Refsum Disease |
|
Dry skin, Microphthalmia |
ORPHA:773 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon, Craniosynostosis, Poorly formed meten... |
OMIM:601374 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:618430 |
| Focal Dermal Hypoplasia |
|
Erythema, Hypoplasia of the iris, Umbilical hernia, Spina bifida, Abnormality of skin pigmentatio... |
ORPHA:2092 |
| Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Cerebellar vermis hypoplasia, Microphthalmia |
OMIM:619135 |
| Xq28 (MECP2) duplication |
|
Brachycephaly |
DECIPHER:45 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Cerebellar hypopl... |
OMIM:257300 |
| Hereditary Spherocytosis |
|
Growth delay, Skin ulcer, Pallor |
ORPHA:822 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Cerebellar hypoplasia, Plagiocephaly, Growth delay |
OMIM:619188 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Polyhydramnios, Brachycephaly, Short stature |
OMIM:301041 |
| 1Q21.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Microphthalmia, Short stature, Frontal bossing |
ORPHA:250989 |
| Acrofrontofacionasal Dysostosis 2 |
|
Short stature, Brachycephaly, Redundant neck skin |
OMIM:239710 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor, Pedal edema |
ORPHA:86839 |
| 3P25.3 Microdeletion Syndrome |
|
Brachycephaly, Microphthalmia |
ORPHA:435638 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Cerebellar vermis hypoplasia, Brachycephaly, Retrocerebellar cyst |
ORPHA:364028 |
| Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Coronal craniosynostosis, Umbilical hernia, Premature skin wrinklin... |
OMIM:612289 |
| Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ... |
OMIM:123500 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Short stature, Brachycephaly, Frontal bossing, Microphthalmia |
OMIM:257850 |
| Cousin Syndrome |
|
Hydranencephaly, Disproportionate short stature, Rhizomelia, Hydrocephalus, Microphthalmia, Front... |
OMIM:260660 |
| Intellectual Disability-Strabismus Syndrome |
|
Polyhydramnios, Intrauterine growth retardation, Plagiocephaly, Short stature |
ORPHA:363528 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Plagiocephaly, Growth delay, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Fr... |
OMIM:617193 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Pallor |
ORPHA:29072 |
| Acrofrontofacionasal Dysostosis |
|
Short stature, Brachycephaly, Hypopigmented skin patches |
ORPHA:1784 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Brachycephaly, Growth delay |
ORPHA:3306 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Coronal craniosynostosis, Brachycephaly, Umbilical hernia |
ORPHA:2095 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Septo-optic dysplasia, Hydrocephalus, Microphthalmia |
ORPHA:3301 |
| Trisomy 20P |
|
Plagiocephaly, Umbilical hernia, Brachycephaly, Spina bifida, Dolichocephaly, Frontal bossing |
ORPHA:261318 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Intrauterine growth retardation, Oligohydramnios, Cafe-au-lait spot, Microphthalmia |
ORPHA:364577 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Cerebellar atrophy, Hypoplasia of the pons, Bilateral microphthalmos, Intra... |
ORPHA:468631 |
| Jacobsen Syndrome |
|
Trigonocephaly, Intrauterine growth retardation, Macular hypoplasia, Hydrocephalus, Microphthalmi... |
OMIM:147791 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Houge-Janssens Syndrome 2 |
|
Plagiocephaly, Hydrocephalus |
OMIM:616362 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Chiari type I malformation, Cerebellar vermis hypoplasia, Plagiocephaly, Frontal bossing |
OMIM:619720 |
| 20Q11.2 Microduplication Syndrome |
|
Trigonocephaly, Brachycephaly, Severe intrauterine growth retardation, Periorbital edema, Palpebr... |
ORPHA:363659 |
| Momo Syndrome |
|
Short stature, Brachycephaly, Frontal bossing, Bilateral microphthalmos |
ORPHA:2563 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Disproportionate short-limb short stature, Intrauterine growth retardation, Melanocytic nevus, Mi... |
OMIM:101800 |
| 3Q29 Microduplication Syndrome |
|
Craniosynostosis, Aniridia, Biparietal narrowing, Microphthalmia |
ORPHA:251038 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Short stature, Hypopigmentation of the skin, Growth delay, Cranial asymmetry |
OMIM:163200 |
| Alagille Syndrome |
|
Intrauterine growth retardation, Brachycephaly, Delayed puberty, Spina bifida occulta, Frontal bo... |
ORPHA:52 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dysgenesis of the cerebellar vermis, Disproportionate short-limb short stature, Molar tooth sign ... |
OMIM:619479 |
| Kury-Isidor Syndrome |
|
Brachycephaly, Growth delay, Frontal bossing |
OMIM:619762 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short stature, Brachycephaly |
OMIM:600430 |
| Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
| ERI1-related disease |
|
Trigonocephaly, Intrauterine growth retardation, Brachycephaly, Short stature, Frontal bossing |
OMIM:608739 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
| Cohen Syndrome |
|
Intrauterine growth retardation, Delayed puberty, Abnormality of skin pigmentation, Microphthalmi... |
ORPHA:193 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Plagiocephaly, Umbilical hernia |
OMIM:616579 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Polyhydramnios, Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:617296 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Flat occiput |
OMIM:619383 |
| Diamond-Blackfan Anemia 1 |
|
Parietal foramina, Intrauterine growth retardation, Pallor, Short stature, Spina bifida occulta |
OMIM:105650 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Brachycephaly, Bicoronal synostosis |
ORPHA:93258 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Short stature, Brachycephaly |
ORPHA:1173 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Abnormally large globe, Brachycephaly, Cutis laxa, Hydrocephalus, Short stature, Cran... |
OMIM:245600 |
| Martsolf Syndrome 1 |
|
Short stature, Brachycephaly, Microphthalmia |
OMIM:212720 |
| Anauxetic Dysplasia 3 |
|
Severe short stature, Cutis laxa, Plagiocephaly |
OMIM:618853 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:1352 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Brachycephaly |
OMIM:620240 |
| Larsen-Like Syndrome |
|
Short stature, Brachycephaly, Frontal bossing |
OMIM:608545 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly |
OMIM:300958 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Intrauterine growth retardation, Multiple c... |
OMIM:616975 |
| Neu-Laxova Syndrome 1 |
|
Generalized edema, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbili... |
OMIM:256520 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Lig4 Syndrome |
|
Erythema, Brachycephaly, Growth delay, Biparietal narrowing |
ORPHA:99812 |
| Papillorenal Syndrome |
|
Short stature, Chiari type I malformation, Edema, Microphthalmia |
OMIM:120330 |
| Charge Syndrome |
|
Umbilical hernia, Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Delayed ... |
OMIM:214800 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Basal Cell Nevus Syndrome 1 |
|
Parietal bossing, Hydrocephalus, Spina bifida, Microphthalmia, Frontal bossing |
OMIM:109400 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... |
ORPHA:2334 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly |
OMIM:218000 |
| Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Hyperpigmentation of the skin, Cafe-au-lait spot, Microphthalmia |
OMIM:610832 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin, Brachycephaly, Flat occiput |
OMIM:618797 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht... |
OMIM:153400 |
| Premature Aging Syndrome, Penttinen Type |
|
Frontal bossing, Thin calvarium, Corneal stromal edema, Microphthalmia, Retrocerebellar cyst |
OMIM:601812 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Frontal bossing, Microphthalmia |
OMIM:620098 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Plagiocephaly, Abnormally large globe, Hydrocephalus |
OMIM:239300 |
| Cerebellofaciodental Syndrome |
|
Short stature, Cerebellar hypoplasia, Hypoplasia of the pons, Hypoplasia of the midbrain |
OMIM:616202 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Weill-Marchesani Syndrome 2 |
|
Microspherophakia, Umbilical hernia, Striae distensae, Proportionate short stature, Lack of skin ... |
OMIM:608328 |
| Osteogenesis Imperfecta, Type Xx |
|
Brachycephaly, Intrauterine growth retardation, Plagiocephaly, Disproportionate short-limb short ... |
OMIM:618644 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Hypoplasia of the frontal bone, Brachycephaly, Microphthalmia |
OMIM:229400 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Short stature, Postnatal growth retardation, Brachycephaly, Cutis laxa |
OMIM:614800 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hydrops fetalis, Pallor, Dehydration |
OMIM:557000 |
| Apert Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, Rhizomelic arm shorten... |
OMIM:101200 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Short stature, Few cafe-au-lait spots, Plagiocephaly |
OMIM:618106 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Brachycephaly, Mesomelic short stature, Dolichocephaly |
ORPHA:2633 |
| Adenylosuccinase Deficiency |
|
Brachycephaly, Growth delay, Cerebellar atrophy |
OMIM:103050 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar hypoplasia, Lambdoidal craniosynostosis, Brachycephaly, Cerebellar atrophy |
OMIM:615398 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Monosomy 13Q14 |
|
Trigonocephaly, Intrauterine growth retardation, Microphthalmia, Short stature, Holoprosencephaly |
ORPHA:1587 |
| Kapur-Toriello Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:244300 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Hyperparathyroidism, Transient Neonatal |
|
Umbilical hernia, Brachycephaly, Polyhydramnios, Communicating hydrocephalus, Frontal bossing |
OMIM:618188 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Plagiocephaly, Oligohydramnios, Brachycephaly, Growth delay, Abnormal parietal bone morphology |
ORPHA:247262 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Trichothiodystrophy |
|
Diffuse cerebellar atrophy, Bilateral microphthalmos, Umbilical hernia, Dry skin, Intrauterine gr... |
ORPHA:33364 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration |
ORPHA:2131 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Optic nerve h... |
OMIM:243605 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Plagiocephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Abnormal dentate nucleus morphology... |
OMIM:619512 |
| White-Sutton Syndrome |
|
Cerebellar atrophy, Hypoplasia of the pons, Vitiligo, Brachycephaly, Short stature |
ORPHA:468678 |
| Duane Retraction Syndrome |
|
Irregular hyperpigmentation, Plagiocephaly, Optic disc hypoplasia, Hypopigmented skin patches, An... |
ORPHA:233 |
| Acrodysostosis |
|
Short stature, Brachycephaly, Melanocytic nevus, Frontal bossing |
ORPHA:950 |
| X-Linked Intellectual Disability, Wilson Type |
|
Brachycephaly, Growth delay |
ORPHA:85290 |
| Aicardi Syndrome |
|
Plagiocephaly, Aplasia/Hypoplasia of the cerebellum, Delayed puberty, Abnormality of skin pigment... |
ORPHA:50 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| 47,Xyy Syndrome |
|
Abnormal brainstem morphology, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydroce... |
ORPHA:8 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Dry skin, Intrauterine growth retardation, Oligohydramnios, Brachycephaly |
OMIM:619229 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Brachycephaly |
OMIM:620073 |
| Lujan-Fryns Syndrome |
|
Brachycephaly |
ORPHA:776 |
| Chromosome 13Q14 Deletion Syndrome |
|
Growth delay, Umbilical hernia, Microphthalmia, Dolichocephaly, Holoprosencephaly, Frontal bossing |
OMIM:613884 |
| Familial Acute Necrotizing Encephalopathy |
|
Cerebral edema, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
| 22Q11.2 Deletion Syndrome |
|
Hypopigmented skin patches, Multiple suture craniosynostosis, Umbilical hernia, Intrauterine grow... |
ORPHA:567 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Prolactinoma |
|
Delayed puberty, Pallor |
ORPHA:2965 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Cerebrofaciothoracic Dysplasia |
|
Polyhydramnios, Cerebellar vermis hypoplasia, Brachycephaly, Short stature |
ORPHA:1394 |
| Baller-Gerold Syndrome |
|
Severe short stature, Erythema, Lambdoidal craniosynostosis, Coronal craniosynostosis, Chiari mal... |
OMIM:218600 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pallor, Hydrocephalus |
OMIM:277400 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Brachycephaly, Plagiocephaly |
OMIM:619910 |
| Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
| Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Trigonocephaly, Cerebellar hypoplasia, Mol... |
OMIM:615948 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Increased nuchal translucency, Branchial anomaly,... |
ORPHA:453499 |
| Hypomandibular Faciocranial Dysostosis |
|
Polyhydramnios, Trigonocephaly, Brachycephaly, Craniosynostosis |
ORPHA:1790 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia |
OMIM:234050 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Angelman Syndrome |
|
Brachycephaly, Hypopigmentation of the skin, Flat occiput |
OMIM:105830 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| White-Sutton Syndrome |
|
Short stature, Brachycephaly, Intrauterine growth retardation, Optic nerve hypoplasia |
OMIM:616364 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Brachycephaly, Growth delay |
OMIM:300260 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Growth delay, Microphthalmia |
OMIM:120200 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Cerebellar vermis hypoplasia, Postnatal growth retardation, Brachycephaly, Short stature, Frontal... |
OMIM:156200 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Polyhydramnios, Brachycephaly, Short stature |
OMIM:619859 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly |
OMIM:616083 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Frank-Ter Haar Syndrome |
|
Abnormally large globe, Flat occiput, Redundant neck skin, Brachycephaly, Buphthalmos, Growth del... |
OMIM:249420 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Short stature, Brachycephaly, Lobar holoprosencephaly, Skull asymmetry |
OMIM:614701 |
| Hallermann-Streiff Syndrome |
|
Proportionate short stature, Cerebellar hypoplasia, Brachycephaly, Microphthalmia, Frontal bossing |
ORPHA:2108 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Brachycephaly, Frontal bossing, Microphthalmia |
ORPHA:1236 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Robinow-Sorauf Syndrome |
|
Craniosynostosis, Plagiocephaly, Pansynostosis |
OMIM:180750 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Baller-Gerold Syndrome |
|
Brachyturricephaly, Frontal bossing, Intrauterine growth retardation, Brachycephaly, Short statur... |
ORPHA:1225 |
| Yunis-Varon Syndrome |
|
Bilateral microphthalmos, Postnatal growth retardation, Abnormal occipital bone morphology, Incre... |
ORPHA:3472 |
| Oculopalatocerebral Syndrome |
|
Short stature, Microphthalmia |
OMIM:257910 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Polyhydramnios, Dolichocephaly, Plagiocephaly, Severe short stature |
ORPHA:2215 |
| Roberts Syndrome |
|
Postnatal growth retardation, Brachycephaly, Severe intrauterine growth retardation, Microphthalm... |
ORPHA:3103 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Brachycephaly, Sagittal... |
OMIM:603116 |
| Antley-Bixler Syndrome |
|
Craniosynostosis, Brachycephaly, Frontal bossing, Turricephaly |
ORPHA:83 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Generalized edema, Pallor, Edema, Pleural empyema |
ORPHA:544482 |
| 7Q31 Microdeletion Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Plagiocephaly |
ORPHA:251061 |
| Esophageal Atresia |
|
Polyhydramnios, Growth delay, Pallor |
ORPHA:1199 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Plagiocephaly, Turricephaly, Hydrocephalus, Polyhydramnios, Frontal bossing |
OMIM:613603 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Chiari malformation, Postnatal growth retardation, Spina bifida, Mi... |
OMIM:304050 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Brachycephaly, Encephalocele, Exencephaly, Flat occiput |
ORPHA:2211 |
| Developmental And Epileptic Encephalopathy 110 |
|
Posterior plagiocephaly |
OMIM:620149 |
| Distal Deletion 3P |
|
Short stature, Brachycephaly, Intrauterine growth retardation, Umbilical hernia |
ORPHA:1620 |
| Ring Chromosome 7 Syndrome |
|
Plagiocephaly, Abnormal cerebellum morphology, Hyperpigmented nevi, Brachycephaly, Abnormality of... |
ORPHA:1449 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:608688 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Hydrocephalus, Frontal bossing |
OMIM:207410 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Brachycephaly, Microphthalmia, Frontal bossing |
ORPHA:861 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Polyhydramnios, Plagiocephaly, Growth delay, Cerebellar atrophy |
ORPHA:496641 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Plagiocephaly, Growth delay, Anterior plagiocephaly, Left unicoronal synostosis |
OMIM:614749 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pallor, Pleural effusion, Joint swelling, Angioedema |
ORPHA:3260 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Brachycephaly, Growth delay, Flat occiput |
ORPHA:2707 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Short stature, Craniosynostosis, Plagiocephaly, Growth delay |
ORPHA:457193 |
| Teebi-Shaltout Syndrome |
|
Short stature, Scaphocephaly, Turricephaly, Microphthalmia |
OMIM:272950 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short stature, Brachycephaly, Microphthalmia |
OMIM:201180 |
| Sweeney-Cox Syndrome |
|
Polyhydramnios, Brachycephaly, Cerebellar hypoplasia, Flat occiput |
OMIM:617746 |
| Opitz-Kaveggia Syndrome |
|
Plagiocephaly, Facial wrinkling, Umbilical hernia, Hydrocephalus, Short stature, Frontal bossing |
OMIM:305450 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Brachycephaly, Plagiocephaly, Hydrocephalus |
ORPHA:500055 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Skin ulcer, Umbilical hernia, Joint swelling, Delayed puberty, Generalized hypopigmentation, Micr... |
ORPHA:534 |
| Alg12-Cdg |
|
Posterior plagiocephaly, Intrauterine growth retardation, Redundant skin, Cerebellar hypoplasia, ... |
ORPHA:79324 |
| 3Q29 Microdeletion Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia |
ORPHA:65286 |
| Alpha-Mannosidosis, Infantile Form |
|
Cerebellar atrophy, Chiari malformation, Cranial hyperostosis, Umbilical hernia, Thickened calvar... |
ORPHA:309282 |
| Apert Syndrome |
|
Chiari malformation, Brachyturricephaly, Hydrocephalus, Frontal bossing, Acrobrachycephaly, Clove... |
ORPHA:87 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dry skin, Brachycephaly |
OMIM:619244 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Growth delay, Hydrocephalus, Pallor |
ORPHA:667 |
| Oculo-Palato-Cerebral Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:2714 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Short stature, Brachycephaly |
ORPHA:562528 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Proboscis, Cerebellar hypoplasia, Ethmocephaly, Microphthalmia, Short s... |
OMIM:236100 |
| Aymé-Gripp Syndrome |
|
Plagiocephaly, Postnatal growth retardation, Chiari type I malformation, Brachycephaly, Hydroceph... |
ORPHA:1272 |
| Achard Syndrome |
|
Brachycephaly, Broad skull |
OMIM:100700 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Contractural Arachnodactyly, Congenital |
|
Dolichocephaly, Brachycephaly, Frontal bossing, Scaphocephaly |
OMIM:121050 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79240 |
| Cleidocranial Dysplasia |
|
Short stature, Spina bifida occulta, Brachycephaly, Frontal bossing |
ORPHA:1452 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Cartilage-Hair Hypoplasia |
|
Rhizomelia, Spinal dysraphism, Disproportionate short-limb short stature, Brachycephaly, Aplasia/... |
ORPHA:175 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| 49,Xxxxy Syndrome |
|
Short stature, Brachycephaly, Holoprosencephaly |
ORPHA:96264 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Scaphocephaly, Severe postnatal growth retardation, Microphthalm... |
OMIM:620005 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Oculoauricular Syndrome |
|
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Gapo Syndrome |
|
Plagiocephaly, Growth delay, Umbilical hernia, Redundant skin, Frontal bossing |
OMIM:230740 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Unilateral microphthalmos, Cafe-au-lait spot |
OMIM:618874 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia |
OMIM:620454 |
| Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Optic disc hypoplasia, Microphthalmia |
OMIM:607323 |
| Cat Eye Syndrome |
|
Short stature, Microphthalmia, Umbilical hernia |
OMIM:115470 |
| Phace Association |
|
Cerebellar hypoplasia, Optic nerve hypoplasia, Dandy-Walker malformation, Microphthalmia |
OMIM:606519 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Short stature, Postnatal growth retardation, Brachycephaly, Cerebellar hypoplasia |
OMIM:212066 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Short stature, Brachycephaly |
OMIM:619995 |
| Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Growth delay |
OMIM:222748 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
| Mend Syndrome |
|
Spotty hypopigmentation, Hydrocephalus, Microphthalmia, Short stature, Dandy-Walker malformation |
ORPHA:401973 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly, Growth delay, Cerebellar atrophy |
OMIM:615471 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Short stature, Brachycephaly |
OMIM:618885 |
| Fryns Syndrome |
|
Polyhydramnios, Dandy-Walker malformation, Microphthalmia |
ORPHA:2059 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Brachycephaly, Cerebellar hemisphere hypoplasia, Delayed puberty, Mild postnatal growth retardation |
ORPHA:456312 |
| Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Chiari malformation, Oxycephaly, Trigonoce... |
OMIM:614188 |
| Weill-Marchesani Syndrome 1 |
|
Microspherophakia, Proportionate short stature, Brachycephaly, Short stature, Broad skull |
OMIM:277600 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Hydrocephalus, Microphthalmia |
ORPHA:268249 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... |
ORPHA:470 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:264580 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Plagiocephaly, Frontal bossing, Postnatal growth retardation, Oligohydramnios, Hydrocephalus, Der... |
ORPHA:536467 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
| 7Q11.23 Microduplication Syndrome |
|
Cerebellar hypoplasia, Brachycephaly, Hydrocephalus, Craniosynostosis, Short stature, Dolichoceph... |
ORPHA:96121 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Hyperpigmented streaks, Microphthalmia |
OMIM:300952 |
| Craniofacial Microsomia 1 |
|
Chiari malformation, Occipital encephalocele, Branchial anomaly, Anophthalmia, Hydrocephalus, Mic... |
OMIM:164210 |
| 2Q31.1 Microdeletion Syndrome |
|
Short stature, Trigonocephaly, Microphthalmia |
ORPHA:251014 |
| Von Hippel-Lindau Disease |
|
Macular edema, Pallor, Cerebellar hemangioblastoma |
ORPHA:892 |
| Marshall Syndrome |
|
Short stature, Brachycephaly, Frontal bossing, Thickened calvaria |
ORPHA:560 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Oligohydramnios, Rieger anomaly, Hypoplasia of the ciliary body, Macular ... |
OMIM:609049 |
| Microphthalmia, Lenz Type |
|
Short stature, Microphthalmia |
ORPHA:568 |
| Diamond-Blackfan Anemia |
|
Short stature, Growth delay, Pallor, Nonimmune hydrops fetalis |
ORPHA:124 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Dolichocephaly, ... |
OMIM:620186 |
| Pallister-Hall Syndrome |
|
Intrauterine growth retardation, Microphthalmia, Short stature, Holoprosencephaly, Growth delay |
OMIM:146510 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Intrauterine growth retardation, Oligohydramnios, Cafe-au-lait spot, Microphthalmia |
OMIM:608670 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Chiari type I malformation, Plagiocephaly, Turricephaly |
OMIM:620224 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth retardation, Microphtha... |
OMIM:223370 |
| Wilson Disease |
|
Ascites, Face of the giant panda sign, Edema, Pedal edema |
OMIM:277900 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Delayed puberty, Pallor |
ORPHA:91347 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Brachycephaly, Growth delay, Flat occiput |
ORPHA:96147 |
| Craniofrontonasal Syndrome |
|
Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Short stature, Frontal bossing |
OMIM:304110 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Plagiocephaly, Cerebellar atrophy, Ascites, Brachycephaly, Short stature |
OMIM:301072 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Dolichocephaly, Plagiocephaly, Frontal bossing |
ORPHA:457279 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
| Neurofaciodigitorenal Syndrome |
|
Short stature, Brachycephaly, Intrauterine growth retardation, Plagiocephaly |
ORPHA:2673 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Plagiocephaly, Olivopontocerebellar hypoplasia, Optic nerve hypoplasia |
ORPHA:457284 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Short stature, Brachycephaly, Dandy-Walker malformation, Cerebellar hypoplasia |
OMIM:300968 |
| Ohdo Syndrome, X-Linked |
|
Cafe-au-lait spot, Microphthalmia |
OMIM:300895 |
| Turnpenny-Fry Syndrome |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Intrauterine growth retardation, Melanocytic nevus, ... |
OMIM:618371 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Posterior plagiocephaly, Umbilical hernia, Few cafe-au-lait spots, ... |
OMIM:620330 |
| Myhre Syndrome |
|
Intrauterine growth retardation, Thickened calvaria, Birth length less than 3rd percentile, Micro... |
OMIM:139210 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Edema of the dorsum of hands, Brachycephaly,... |
OMIM:274000 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Plagiocephaly, Frontal bossing, Dolichocephaly, Cutis laxa, Polyhydramnios, Craniosyn... |
OMIM:613610 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dolichocephaly, Intrauterine growth retardation, Plagiocephaly, Frontal bossing |
OMIM:619005 |
| Hydrolethalus Syndrome 1 |
|
Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Anencephaly, Dandy-Walker malfor... |
OMIM:236680 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Posterior plagiocephaly, Plagiocephaly, Frontal bossing, Intrauteri... |
OMIM:619841 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly |
OMIM:605282 |
| Developmental And Epileptic Encephalopathy 84 |
|
Plagiocephaly |
OMIM:618792 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Brachycephaly, Posterior plagiocephaly, Growth delay |
OMIM:617798 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Hypoplasia of the frontal bone, Microphthalmia |
ORPHA:306542 |
| Raine Syndrome |
|
Plagiocephaly, Brachyturricephaly, Brachycephaly, Hydrocephalus, Short stature |
OMIM:259775 |
| Momo Syndrome |
|
Brachycephaly, Frontal bossing |
OMIM:157980 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Buphthalmos, Brachycephaly, Rieger anomaly |
ORPHA:521445 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short stature, Postnatal growth retardation, Rhizomelia, Microphthalmia |
OMIM:608940 |
| Prader-Willi Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:176270 |
| Osteogenesis Imperfecta, Type Xi |
|
Short stature, Brachycephaly |
OMIM:610968 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Brachycephaly, Decreased calvarial ossification, Frontal bossing, Microphthalmia |
OMIM:617925 |
| Trichohepatoneurodevelopmental Syndrome |
|
Polyhydramnios, Brachycephaly, Plagiocephaly, Cerebellar hypoplasia |
OMIM:618268 |
| Au-Kline Syndrome |
|
Plagiocephaly, Dolichocephaly, Sagittal craniosynostosis, Lipomyelomeningocele, Craniosynostosis |
OMIM:616580 |
| Acromelic Frontonasal Dysostosis |
|
Parietal foramina, Encephalocele, Brachycephaly, Retrocerebellar cyst, Optic nerve hypoplasia |
OMIM:603671 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short stature, Optic nerve hypoplasia, Spina bifida, Microphthalmia |
ORPHA:508498 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short stature, Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:610759 |
| Saethre-Chotzen Syndrome |
|
Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly |
ORPHA:794 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Delayed puberty, Abnormal midbrain morphology |
ORPHA:293987 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Severe short stature, Rhizomelia, Microphthalmia |
ORPHA:85167 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Short stature, Brachycephaly, Hypermelanotic macule, Frontal bossing |
OMIM:259600 |
| Neuroblastoma |
|
Anemic pallor |
ORPHA:635 |
| Atelis Syndrome 2 |
|
Frontal bossing, Microphthalmia |
OMIM:620185 |
| Trisomy 9P |
|
Brachycephaly |
ORPHA:236 |
| Beck-Fahrner Syndrome |
|
Brachycephaly |
OMIM:618798 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Plagiocephaly, Growth delay, Hypoplasia of the brainstem |
OMIM:254940 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Short stature, Dry skin, Brachycephaly |
OMIM:601701 |
| Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Plagiocephaly |
ORPHA:2063 |
| Hoxha-Aliu Syndrome |
|
Brachycephaly |
OMIM:620662 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Plagiocephaly |
OMIM:619680 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
| Dysostosis, Stanescu Type |
|
Short stature, Brachycephaly |
ORPHA:1798 |
| Cockayne Syndrome |
|
Severe short stature, Cerebellar dentate nucleus calcification, Cerebellar atrophy, Premature ski... |
ORPHA:191 |
| Gorlin Syndrome |
|
Brachycephaly, Melanocytic nevus, Frontal bossing, Hydrocephalus |
ORPHA:377 |
| Alg9-Cdg |
|
Rhizomelia, Cerebellar atrophy, Oligohydramnios, Brachycephaly, Pericardial effusion, Hydrops fet... |
ORPHA:79328 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Short stature, Plagiocephaly |
ORPHA:2916 |
| Adnp Syndrome |
|
Plagiocephaly, Umbilical hernia, Trigonocephaly, Brachycephaly, Short stature |
ORPHA:404448 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Spinal dysraphism, Growth delay, Plagiocephaly, Frontal bossing, Postnatal growth retardation, In... |
ORPHA:96334 |
| Monosomy 9P |
|
Trigonocephaly, Brachycephaly, Calvarial skull defect, Microphthalmia |
ORPHA:261112 |
| 48,Xxxy Syndrome |
|
Brachycephaly |
ORPHA:96263 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Saethre-Chotzen Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f... |
OMIM:101400 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Premature skin wrinkling, Frontal bossing, Intrauterine growth retardation... |
ORPHA:3455 |
| Atelosteogenesis Type Ii |
|
Polyhydramnios, Rhizomelic arm shortening, Plagiocephaly, Rhizomelia |
ORPHA:56304 |
| Branchioskeletogenital Syndrome |
|
Periorbital wrinkles, Umbilical hernia, Blepharochalasis, Thickened calvaria, Brachycephaly, Cran... |
ORPHA:1299 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia |
ORPHA:91495 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia |
ORPHA:275761 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Plagiocephaly, Umbilical hernia, Dry skin, Brachycephaly, Frontal bossing |
OMIM:280000 |
| Down Syndrome |
|
Short stature, Brachycephaly, Delayed puberty, Umbilical hernia |
ORPHA:870 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
| Bartsocas-Papas Syndrome 1 |
|
Dry skin, Intrauterine growth retardation, Microphthalmia |
OMIM:263650 |
| Adams-Oliver Syndrome 1 |
|
Calvarial skull defect, Encephalocele, Microphthalmia |
OMIM:100300 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Cerebellar vermis atrophy, Brachycephaly, Plagiocephaly |
ORPHA:495818 |
| Osteogenesis Imperfecta |
|
Rhizomelia, Brain stem compression, Umbilical hernia, Intrauterine growth retardation, Prominent ... |
ORPHA:666 |
| Orofaciodigital Syndrome Type 14 |
|
Trigonocephaly, Dilated fourth ventricle, Dandy-Walker malformation, Molar tooth sign on MRI |
ORPHA:434179 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Short stature, Plagiocephaly |
OMIM:615656 |
| Kleefstra Syndrome |
|
Short stature, Brachycephaly |
ORPHA:261494 |
| Gangliocytoma |
|
Abnormal brainstem morphology, Abnormal cerebellum morphology |
ORPHA:251937 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Severe short stature, Brachycephaly |
OMIM:156400 |
| Humeroradial Synostosis |
|
Brachycephaly |
OMIM:236400 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Short stature, Frontal bossing, Microphthalmia |
OMIM:268400 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Frontal bossing |
ORPHA:85199 |
| Cree Impaired Intellectual Development Syndrome |
|
Brachycephaly |
OMIM:606851 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Postnatal growth retardation, Brachycephaly, Delayed puberty, Short stature |
OMIM:616263 |
| Kleefstra Syndrome 1 |
|
Brachycephaly |
OMIM:610253 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Microphthalmia |
OMIM:221900 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Postnatal growth retardation, Brachycephaly, Polyhydramnios, Craniosynostosis, Short stature |
OMIM:213980 |
| Cartilage-Hair Hypoplasia |
|
Brachycephaly, Neonatal short-limb short stature, Absent pubertal growth spurt |
OMIM:250250 |
| Doors Syndrome |
|
Sirenomelia, Prominent occiput, Small cerebellar cortex, Anterior plagiocephaly, Brachycephaly, S... |
ORPHA:79500 |
| Loeys-Dietz Syndrome 5 |
|
Short stature, Dolichocephaly, Brachycephaly, Growth delay |
OMIM:615582 |
| Lig4 Syndrome |
|
Brachycephaly |
OMIM:606593 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Short stature, Brachycephaly, Thickened calvaria |
OMIM:309583 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal brainstem morphology, Intrauterine growth retardation, Oligohydramnios, Birth length les... |
ORPHA:464311 |
| Fibrochondrogenesis |
|
Short stature, Plagiocephaly |
ORPHA:2021 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Chiari malformation, Turricephaly, Brachycephaly, Delayed puberty, Hydrocephalus, Craniosynostosi... |
ORPHA:95699 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| X-Linked Intellectual Disability, Snyder Type |
|
Short stature, Cerebral edema, Brachycephaly, Patchy hypo- and hyperpigmentation |
ORPHA:3063 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Brachycephaly |
ORPHA:371428 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Plagiocephaly, Growth delay, Proportionate short stature |
OMIM:613457 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Hydrocephalus, Microphthalmia |
OMIM:309801 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypopigmentation of the skin, Plagiocephaly, Intrauterine growth retardation, Melanocytic nevus, ... |
OMIM:619475 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Pallister-Hall Syndrome |
|
Umbilical hernia, Trigonocephaly, Intrauterine growth retardation, Oligohydramnios, Scaphocephaly... |
ORPHA:672 |
| Fucosidosis |
|
Brachycephaly |
ORPHA:349 |
| Arboleda-Tham Syndrome |
|
Plagiocephaly, Growth delay, Intrauterine growth retardation, Upper eyelid edema, Freckling, Cran... |
OMIM:616268 |
| Roberts-Sc Phocomelia Syndrome |
|
Postnatal growth retardation, Brachycephaly, Hydrocephalus, Frontal encephalocele, Microphthalmia... |
OMIM:268300 |
| Fraser Syndrome 2 |
|
Oligohydramnios, Microphthalmia |
OMIM:617666 |
| Alobar Holoprosencephaly |
|
Proboscis, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth delay, Neural tube... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Proboscis, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth delay, Neural tube... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Proboscis, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth delay, Neural tube... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Proboscis, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth delay, Neural tube... |
ORPHA:220386 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Intrauterine growth retardation, Redundant neck skin, Brachycephaly, Polyhydramn... |
OMIM:617157 |
| Phace Syndrome |
|
Cerebellar hypoplasia, Microphthalmia, Lens coloboma, Dandy-Walker malformation, Optic nerve hypo... |
ORPHA:42775 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Dolichocephaly, Plagiocephaly, Frontal bossing, Spina bifida |
OMIM:619480 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retardation, Short st... |
ORPHA:93325 |
| Acro-Renal-Ocular Syndrome |
|
Postnatal growth retardation, Optic disc hypoplasia, Microphthalmia |
ORPHA:959 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Brachycephaly, Cerebellar atrophy |
ORPHA:369837 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Polyhydramnios, Plagiocephaly |
OMIM:618548 |
| Steinfeld Syndrome |
|
Holoprosencephaly, Microphthalmia |
OMIM:184705 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Short stature, Cerebellar vermis hypoplasia, Plagiocephaly |
OMIM:620083 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Cockayne Syndrome Type 3 |
|
Cerebellar dentate nucleus calcification, Mild postnatal growth retardation, Microphthalmia |
ORPHA:90324 |
| Peters Plus Syndrome |
|
Rhizomelia, Disproportionate short-limb short stature, Umbilical hernia, Frontal bossing, Postnat... |
ORPHA:709 |
| Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Proboscis, Cerebellar hypoplasia, Micropht... |
OMIM:157170 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Hypoplasia of the pons, Sagittal craniosynostosis, S... |
OMIM:620455 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Plagiocephaly |
OMIM:261990 |
| Cornelia De Lange Syndrome 1 |
|
Short stature, Brachycephaly, Intrauterine growth retardation |
OMIM:122470 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Brachycephaly, Hydrops fetalis |
OMIM:263520 |
| Fryns Syndrome |
|
Polyhydramnios, Chylothorax, Dandy-Walker malformation, Microphthalmia |
OMIM:229850 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Short stature, Brachycephaly, Frontal bossing |
OMIM:616728 |
| Wiedemann-Rautenstrauch Syndrome |
|
Chiari malformation, Premature skin wrinkling, Dry skin, Intrauterine growth retardation, Parieta... |
OMIM:264090 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Parietal foramina, Microphthalmia |
OMIM:609945 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Prominent occiput, Turricephaly, Brachycephaly, Palmoplantar erythema, Microphthalmia, Frontal bo... |
OMIM:612474 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Plagiocephaly, Optic nerve hypoplasia |
ORPHA:45358 |
| Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Brachycephaly |
OMIM:244450 |
| Hamamy Syndrome |
|
Craniosynostosis, Brachycephaly |
OMIM:611174 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Excessive wrinkled skin, Brachycephaly, Short stature, Growth delay, Cafe-au-lait spot |
OMIM:619950 |
| Hunter-Macdonald Syndrome |
|
Short stature, Brachycephaly, Umbilical hernia |
OMIM:611962 |
| Carpenter Syndrome 2 |
|
Umbilical hernia, Oxycephaly, Trigonocephaly, Brachycephaly, Cutis laxa, Craniosynostosis, Fronta... |
OMIM:614976 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Cerebellar h... |
ORPHA:480880 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Brachycephaly, Growth delay |
OMIM:601353 |
| Kenny-Caffey Syndrome, Type 2 |
|
Severe short stature, Microphthalmia |
OMIM:127000 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Growth delay, Frontal bossing, Intrauterine growth retardation, Microphthalmia... |
OMIM:613406 |
| Faundes-Banka Syndrome |
|
Fetal ascites, Plagiocephaly, Intrauterine growth retardation, Delayed puberty, Frontal bossing |
OMIM:619376 |
| Ayme-Gripp Syndrome |
|
Short stature, Craniofacial asymmetry, Chiari type I malformation, Brachycephaly |
OMIM:601088 |
| Coffin-Siris Syndrome 1 |
|
Plagiocephaly, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, B... |
OMIM:135900 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Plagiocephaly, Oligohydramnios, Thickened calvaria, Brachycephaly, Short stature |
ORPHA:2785 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Brachycephaly |
ORPHA:2988 |
| Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
| Renpenning Syndrome 1 |
|
Short stature, Brachycephaly, Microphthalmia |
OMIM:309500 |
| Cornelia De Lange Syndrome |
|
Intrauterine growth retardation, Increased nuchal translucency, Severe postnatal growth retardati... |
ORPHA:199 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Brachycephaly, Frontal bossing |
OMIM:616078 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Erythema, Fetal ascites, Few cafe-au-lait spots, Dry skin, Oligohydramnios, Joint swelling, Brach... |
OMIM:619503 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Skin ulcer, Ecchymosis, Brachycephaly, Delayed puberty, Hydrocephalus, Growth delay |
ORPHA:2072 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Microphthalmia |
ORPHA:3186 |
| Microphthalmia, Syndromic 1 |
|
Growth delay, Anophthalmia, Microphthalmia |
OMIM:309800 |
| Faciocardiorenal Syndrome |
|
Plagiocephaly |
ORPHA:1973 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Brachycephaly, Ecchymosis, Umbilical hernia |
OMIM:601776 |
| Chime Syndrome |
|
Erythema, Brachycephaly, Skin ulcer |
ORPHA:3474 |
| 8Q24.3 Microdeletion Syndrome |
|
Infancy onset short-trunk short stature, Branchial cyst, Bilateral microphthalmos, Intrauterine g... |
ORPHA:508488 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Phthisis bulbi, Microphthalmia |
OMIM:259770 |
| Schinzel-Giedion Syndrome |
|
Chiari type I malformation, Frontal bossing, Neural tube defect, Umbilical hernia |
ORPHA:798 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Short stature, Brachycephaly, Frontal bossing |
ORPHA:1974 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Brachycephaly |
OMIM:618223 |
| Distal Deletion 12Q |
|
Short stature, Brachycephaly, Growth delay, Frontal bossing |
ORPHA:96149 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Brachycephaly |
ORPHA:2062 |
| Neuroocular Syndrome 1 |
|
Umbilical hernia, Hypoplasia of the fovea, Microphthalmia, Short stature, Lens coloboma |
OMIM:619539 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short stature, Microphthalmia |
OMIM:616734 |
| Common Variable Immunodeficiency |
|
Brachycephaly, Purpura |
ORPHA:1572 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Plagiocephaly, Cerebellar hypoplasia, Chiari type I malformation, Thickened calvaria, Delayed pub... |
ORPHA:466791 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Chiari malformation, Pleural effusion, Nonimmune hydrops fetalis, Brachycephaly, Polyhydramnios |
OMIM:265380 |
| Traboulsi Syndrome |
|
Microphthalmia |
OMIM:601552 |
| Kbg Syndrome |
|
Short stature, Brachycephaly |
OMIM:148050 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Bicoronal synostosis, Delayed puberty, Anterior plagiocephaly |
OMIM:619718 |
| Liver Disease, Severe Congenital |
|
Plagiocephaly, Umbilical hernia, Ascites, Intrauterine growth retardation, Pulmonary edema, Derma... |
OMIM:619991 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
| Aicardi-Goutières Syndrome |
|
Short stature, Dry skin, Plagiocephaly |
ORPHA:51 |
| 6Q Terminal Deletion Syndrome |
|
Cerebellar hypoplasia, Dolichocephaly, Plagiocephaly |
ORPHA:75857 |
| Cleidocranial Dysplasia 2 |
|
Plagiocephaly |
OMIM:620099 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Short stature, Trigonocephaly, Brachycephaly, Craniosynostosis |
OMIM:309590 |
| Congenital Myopathy 13 |
|
Short stature, Brachycephaly |
OMIM:255995 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Intrauterine growth retardation, Posterior plagiocephaly |
OMIM:615873 |
| Down Syndrome |
|
Short stature, Brachycephaly, Redundant neck skin |
OMIM:190685 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Brachycephaly, Proportionate short stature |
OMIM:227330 |
| Congenital Disorder Of Deglycosylation 1 |
|
Brachycephaly |
OMIM:615273 |
| Specc1L-Related Hypertelorism Syndrome |
|
Brachycephaly, Umbilical hernia |
ORPHA:1519 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus, Microphthalmia |
OMIM:273395 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Postnatal growth retardation, Brachycephaly, Frontal bossing |
OMIM:619127 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Plagiocephaly, Skull asymmetry, Dry skin, Redundant skin in infancy, Mild postnatal growth retard... |
OMIM:150230 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Brachycephaly |
OMIM:608980 |
| Norrie Disease |
|
Hypoplasia of the iris, Aplasia/Hypoplasia of the cerebellum, Delayed puberty, Aplasia/Hypoplasia... |
ORPHA:649 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... |
OMIM:309000 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Craniosynostosis, Plagiocephaly |
ORPHA:1521 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Cerebellar atrophy, Hydrocephalus, Microphthalmia |
OMIM:175780 |
| Viss Syndrome |
|
Umbilical hernia, Frontal bossing, Brachycephaly, Cutis laxa, Polyhydramnios, Dolichocephaly, Sho... |
OMIM:619472 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Short stature, Plagiocephaly |
ORPHA:444077 |
| Elsahy-Waters Syndrome |
|
Phthisis bulbi, Brachycephaly |
OMIM:211380 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Short stature, Plagiocephaly, Hydrocephalus |
ORPHA:3042 |
| 1P36 Deletion Syndrome |
|
Short stature, Brachycephaly, Frontal bossing |
ORPHA:1606 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Chiari malformation, Oligohydramnios, Brachycephaly, Craniosynostosis, Frontal bossing, Cloverlea... |
OMIM:201750 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Enlarged cerebellum, Cerebellar hypoplasia, Chiari type I malformat... |
ORPHA:261537 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Brachycephaly, Growth delay, Hydrocephalus, Frontal bossing |
OMIM:607872 |
| X-Linked Intellectual Disability, Armfield Type |
|
Short stature, Brachycephaly |
ORPHA:85276 |
| Townes-Brocks Syndrome |
|
Short stature, Chiari malformation, Delayed puberty, Microphthalmia |
ORPHA:857 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Enlarged cerebellum, Cerebellar hypoplasia, Chiari type I malformat... |
ORPHA:261552 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short stature, Brachycephaly |
OMIM:610442 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Enlarged cerebellum, Anterior plagiocephaly, Microphthalmia, Short ... |
ORPHA:2152 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
| Mowat-Wilson Syndrome |
|
Short stature, Microphthalmia |
OMIM:235730 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Short stature, Postnatal growth retardation, Plagiocephaly |
OMIM:613355 |
| Aspartylglucosaminuria |
|
Short stature, Brachycephaly, Thickened calvaria |
OMIM:208400 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
| Primrose Syndrome |
|
Short stature, Brachycephaly, Delayed puberty |
OMIM:259050 |
