Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Holoprosencephaly, Iris coloboma, Bilateral... |
OMIM:611638 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Microphthalmia, Iris coloboma |
OMIM:616428 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma, Microphthalmia |
OMIM:614497 |
Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Microphthalmia, Facial cleft, Anophthalmia |
OMIM:600776 |
Thyroid Hormone Metabolism, Abnormal |
|
Elevated circulating thyroid-stimulating hormone concentration |
OMIM:609698 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Microphthalmia, Isolated 3 |
|
Sclerocornea, Anophthalmia, Microphthalmia |
OMIM:611038 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Cortical dysplasia, Polymicrogyria, Microcephaly |
OMIM:615771 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microphthalmia |
OMIM:251505 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate, Facial cleft |
OMIM:600251 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... |
OMIM:617542 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Cleft palate, Facial cleft, Brachycephaly |
OMIM:613456 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma, Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormal prolactin level, Agenesis of corpus callosum, Septo-optic dysplasia, Holoprosencephaly, ... |
ORPHA:95494 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Prominent nose, Absent septum pellucidum, Simplified gyral pattern, Hypoplasia of the brainstem, ... |
OMIM:618492 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Brachyturricephaly, Cleft palate, Facial cleft, Cleft upper lip, Optic nerve... |
OMIM:607597 |
Gombo Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:233270 |
Cerebrooculonasal Syndrome |
|
Widely spaced teeth, High palate, Facial cleft, Microdontia, U-Shaped upper lip vermilion, Long p... |
ORPHA:66625 |
Solitary Median Maxillary Central Incisor |
|
Anterior hypopituitarism, Midnasal stenosis, Microphthalmia, Holoprosencephaly, Anophthalmia, Cyc... |
OMIM:147250 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hydrocephalu... |
OMIM:604213 |
Congenital Varicella Syndrome |
|
Microcephaly, Microphthalmia, Cataract, Cerebral cortical atrophy |
ORPHA:291 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia |
OMIM:613094 |
Mental Retardation, Autosomal Dominant 22 |
|
Depressed nasal bridge, Hypertelorism, Abnormality of the pinna, Agenesis of corpus callosum, Mic... |
OMIM:612337 |
Non-Acquired Panhypopituitarism |
|
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... |
ORPHA:90695 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Simplified gyral pattern, Hearing impairment, Proptosis, Cerebellar hypopl... |
OMIM:608716 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract |
OMIM:610623 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Cerebellar hypoplasia, Hypoplasia of the co... |
OMIM:610031 |
3Q13 Microdeletion Syndrome |
|
Hypertelorism, Wide nasal bridge, Macrocephaly, Anteverted nares, Cryptorchidism, Agenesis of cor... |
ORPHA:1621 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Microlissencephaly, Hypertelorism, Macrotia, Simplified gyral pattern, Hypoplasia of the brainste... |
OMIM:617090 |
Anophthalmia Plus Syndrome |
|
Bilateral cleft lip and palate, Cleft palate, Facial cleft, Anophthalmia, Non-midline cleft lip |
ORPHA:1104 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corp... |
OMIM:164180 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia, Cerebral atrophy, Coloboma, Agenesis of corpus callosum, Microcephaly |
OMIM:274270 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Warburg Micro Syndrome 1 |
|
Optic atrophy, Perisylvian polymicrogyria, Microphthalmia, Macrotia, Wide nasal bridge, Deeply se... |
OMIM:600118 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Optic atrophy, Death in infancy, Depressed nasal bridge, Frontal cortical atrophy, Bulbous nose, ... |
OMIM:618766 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Partial agenesis of the corpus callosum, Prominent nose, Simplified gyral pattern, Cerebellar hyp... |
OMIM:616051 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum, Co... |
OMIM:614039 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Hypertelorism, Wide nasal bridge, Macrocephaly, Cerebral atrophy, Hypoplasia of the corpus callos... |
ORPHA:166024 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Microphthalmia |
ORPHA:2432 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Large beaked nose, Convex nasal ridge, Death in infancy, Microphthalmia, Hearing impairment, Micr... |
OMIM:610756 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Prominent nasal bridge, Deeply set eye, Sensorineural hearing impairment, Cerebel... |
OMIM:214150 |
Lissencephaly 4 |
|
Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Micr... |
OMIM:614019 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Perisylvian polymicrogyria, Microphthal... |
OMIM:615663 |
Band Heterotopia |
|
Subcortical band heterotopia, Macrocephaly, Polymicrogyria, Hydrocephalus, Agenesis of corpus cal... |
OMIM:600348 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Recurrent upper respiratory tract inf... |
OMIM:614963 |
Mental Retardation, Autosomal Dominant 47 |
|
Prominent nasal bridge, Microcephaly, Cerebral atrophy, Cryptorchidism, Deeply set eye |
OMIM:617635 |
Corpus Callosum, Agenesis Of |
|
Macrocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, Prominent nose, High-frequency hearing impairment, Sensorineural heari... |
OMIM:304340 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Large earlobe, Broad nasal tip, Sensorineural hearing impairment, Hypoplasia of the corpus callos... |
OMIM:612948 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Large earlobe, Dandy-Walker malformation, Hypertelorism, Bulbous nose, Hypoplasia of the corpus c... |
ORPHA:262767 |
Developmental And Epileptic Encephalopathy 88 |
|
Partial agenesis of the corpus callosum, Depressed nasal bridge, Hypoplasia of the pons, Inferior... |
OMIM:618959 |
Lissencephaly 3 |
|
Lissencephaly, Pachygyria, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Polymicrogy... |
OMIM:611603 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... |
ORPHA:101029 |
Forsythe-Wakeling Syndrome |
|
Macrotia, Prominent nasal bridge, Microcephaly, Deeply set eye |
OMIM:613606 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Depressed nasal bridge, Microphthalmia, Holoprosencephaly, Hypotelorism, Deeply set eye, Microtia... |
OMIM:612530 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Type II lissencephaly, Hydrocephalus |
OMIM:614830 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Prominent nose, Optic atrophy, Optic disc pallor, Microphthalmia, Simplified gyral pattern, Propt... |
OMIM:616171 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Oculomaxillofacial Dysostosis |
|
Cleft palate, Facial cleft, Abnormality of the dentition, Median cleft lip, Aplasia/Hypoplasia af... |
ORPHA:1794 |
Pontocerebellar Hypoplasia, Type 6 |
|
Death in childhood, Prominent nasal bridge, Deeply set eye, Progressive microcephaly, Cerebellar ... |
OMIM:611523 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract, Microcephaly |
OMIM:278780 |
Hydrolethalus |
|
Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Low-set, posteriorly rotated ears, Ab... |
ORPHA:2189 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Low-set, posteriorly rotat... |
ORPHA:1528 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Broad nasal tip, Anophthalmia, Hypoplasia of the pons, Prominent ear helix, Promin... |
ORPHA:411986 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Broad nasal tip, Microphthalmia, Short columella, Hypertelorism, W... |
OMIM:136760 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Prominent nose, Temporal cortical atrophy, Partial absence of cerebellar vermis, Caudate atrophy,... |
ORPHA:137831 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Depressed nasal bridge, Hypertelorism, Posteriorly rotated ears, Interhypothalamic Adhesion, Deep... |
OMIM:618929 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Short nose, Hypertelorism, Wide nasal bridge, Cerebral atrophy, Anteverte... |
OMIM:616430 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly,... |
OMIM:218670 |
Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Microphthalmia, Anophthalmia, Short nose, Microcephaly |
OMIM:613885 |
Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Hypointensity of cerebral white matter on MRI, Short nose, Microcephaly |
ORPHA:46 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hypotelorism, Hypertelorism, Narrow nasal ridge, Deeply set eye, Bulbous nose, Hydrocephalus, Pro... |
OMIM:612940 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dysgenesis of the hippocampus, Polymicrogyria, Cerebellar hypoplasia, Abnormality of thalamus mor... |
ORPHA:300570 |
Alazami Syndrome |
|
Depressed nasal bridge, Wide nose, Wide nasal bridge, Deeply set eye, Microcephaly |
OMIM:615071 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, Cerebral cortical atrop... |
ORPHA:401830 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300067 |
Frontofacionasal Dysplasia |
|
Cleft palate, Facial cleft, Microphthalmia, Brachycephaly, Non-midline cleft lip, Midface retrusion |
ORPHA:1791 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Chorioretinal coloboma, Posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellar vermis, Ma... |
OMIM:300864 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Perisylvian polymicrogyria, Hypertelorism, Prominent nasal bridge, Deeply set eye, Cerebellar hyp... |
OMIM:618443 |
Septooptic Dysplasia |
|
Diabetes insipidus, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidum, Ante... |
OMIM:182230 |
Acrofacial Dysostosis, Weyers Type |
|
Hypodontia, Facial cleft, Solitary median maxillary central incisor, Advanced eruption of teeth, ... |
ORPHA:952 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Death in infancy, Agenesis of corpus callosum |
ORPHA:85334 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Hypertelorism, Central diabetes insipidus, Decreased circulating osteocalc... |
OMIM:125700 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, Depressed nasal bridge, Short nose, Low-set, posteriorly rotated ears, Hypert... |
ORPHA:1695 |
Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... |
ORPHA:83461 |
Cofs Syndrome |
|
Optic atrophy, Death in infancy, Microphthalmia, Wide nasal bridge, Hypogonadism, Sensorineural h... |
ORPHA:1466 |
Craniopharyngioma |
|
Optic atrophy, Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus... |
ORPHA:54595 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 level, D... |
ORPHA:171706 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Prominent nose, Macrotia, Microcephaly, Deeply set eye |
OMIM:615541 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401820 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Cryptorchidism, Microphthalmia |
OMIM:615524 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flared nostrils, Wide nasal bridge, Basal ganglia cysts, Cerebral atrophy, Anteverted nares, Agen... |
OMIM:312170 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Short nose, Hypertelorism, Wide nasal bridge, Hydrocephalus, Proptosis, Anteverted nares, Cryptor... |
OMIM:618577 |
Biemond Syndrome Type 2 |
|
Coloboma, Microphthalmia, Hydrocephalus |
ORPHA:141333 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Deeply set eye |
OMIM:618859 |
Masa Syndrome |
|
Macrocephaly, Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:303350 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Microcephaly |
ORPHA:2528 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon |
OMIM:609218 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Microcephaly, Cryptorchidism, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616681 |
Holoprosencephaly 7 |
|
Short nose, Macrotia, Hypotelorism, Iris coloboma, Flat nasal alae, Macrocephaly, Panhypopituitar... |
OMIM:610828 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Partial agenesis of the corpus callosum, Hypoplastic hippocampus, ... |
ORPHA:85179 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Short nose, Delayed puberty, Microcephaly |
ORPHA:217340 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hypertelorism, Wide nasal bridge, Macrocephaly, Hydrocephalus, Agenesis of corp... |
ORPHA:380 |
Pierpont Syndrome |
|
Abnormal cortical gyration, Microphthalmia, Wide nasal ridge, Macrotia, Posteriorly rotated ears,... |
ORPHA:487825 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Microcephaly |
OMIM:616570 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Optic atrophy, Hypoplasia of the pons, Hearing impairment, Microcephaly, Agenesis of corpus callo... |
OMIM:617669 |
Triopia |
|
Cleft palate, Frontal bossing, Abnormality of the fontanelles or cranial sutures, Midline facial ... |
ORPHA:3374 |
Pierpont Syndrome |
|
Broad nasal tip, Microphthalmia, Large fleshy ears, Wide nose, Short nose, Hypertelorism, Posteri... |
OMIM:602342 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly, Deeply set eye, Microcephaly... |
ORPHA:2570 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Hypertelorism, Posteriorly rotated ears, Agenesis of corpus callosum |
OMIM:619548 |
Pituicytoma |
|
Increased circulating prolactin concentration, Hypogonadotropic hypogonadism, Pituitary hypothyro... |
ORPHA:251623 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Hypertelorism, Abnormality of the pinna, Hearing impairment, Pachygyria, Coloboma... |
OMIM:614583 |
Mental Retardation Syndrome, Belgian Type |
|
Wide nose, Cleft ala nasi, Diabetes mellitus, Hypergonadotropic hypogonadism, Coloboma, Deeply se... |
OMIM:249599 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Progressive macrocephaly, Depressed nasal bridge, Megalencephaly, Microphthalmia, ... |
OMIM:602501 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Death in infancy, Simplified gyral pattern, Hypoplasia o... |
OMIM:619302 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Short nose, Hypertelorism, Abnormal cerebral white matter morphology, Ant... |
OMIM:613443 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short nose, Macrotia, Prominent nasal bridge, Deeply set eye, Hydrocephalus, Anteverted nares, Mi... |
OMIM:300558 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Age... |
ORPHA:139471 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Coloboma, Microphthalmia |
OMIM:120433 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Optic atrophy, Dandy-Walker malformation, Protruding ear, Microphthal... |
ORPHA:899 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea |
OMIM:269400 |
Dystonia 30 |
|
Hypothalamic hamartoma, Globus pallidus hypointensity on susceptibility-weighted imaging, Diffuse... |
OMIM:619291 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Sensorineural hearing impairment, Narrow nasal bridge, Hypoplasia of the corpus callo... |
OMIM:618379 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Wide nasal bridge, Microcephaly, Deeply set eye |
OMIM:618342 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis of the basal gangl... |
ORPHA:300573 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:311895 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Lissencephaly, Sensorineural hearing impairment, Abnormally large globe, Progress... |
OMIM:615249 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia |
OMIM:606713 |
O'Donnell-Luria-Rodan Syndrome |
|
Abnormal corpus callosum morphology, Macrocephaly, Abnormal cerebral white matter morphology, Cry... |
OMIM:618512 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Short nose, Frontal cortical atrophy, Ante... |
ORPHA:228384 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Prominent nasal bridge, Cerebellar vermis hypoplasia, Bulbous nose, S... |
OMIM:616900 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Imagawa-Matsumoto Syndrome |
|
Umbilical hernia, Wide nasal ridge, Hypertelorism, Macrocephaly, Polymicrogyria, Cryptorchidism, ... |
OMIM:618786 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft lip and palate, Facial cleft, Cleft upper lip |
OMIM:601357 |
Adams-Oliver Syndrome 2 |
|
Optic atrophy, Depressed nasal bridge, Microphthalmia, Hypertelorism, Bulbous nose, Polymicrogyri... |
OMIM:614219 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Lobar holoprosencephaly, Holoprosencephaly, Hypotelorism, Macrotia, Hyper... |
OMIM:609637 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Depressed nasal bridge, Macrotia, Bulbous nose, Cerebral atrophy, Anteverted nares, Deeply set eye |
OMIM:617268 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Type II lissencephaly, Microphthalmia, Hydrocephalus |
ORPHA:324416 |
Cubitus Valgus With Mental Retardation And Unusual Facies |
|
Microcephaly, Deeply set eye |
OMIM:300471 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Remnants of the hyal... |
ORPHA:231736 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Hypothalamic hamartoma, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve ... |
OMIM:206900 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Facial cleft, Cleft palate, Narrow mouth |
OMIM:239800 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Broad nasal tip, Depressed nasal bridge, Hearing impairment, Deeply set eye, Bulbous nose, Anteve... |
ORPHA:480907 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Dandy-Walker malformation, Depressed nasal bridge, Short nose, Macrotia, Hypertelorism, Progressi... |
ORPHA:438178 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Hypertelorism, Hearing impairment, Abnormality of the pituitary... |
ORPHA:314621 |
Holoprosencephaly |
|
Iris coloboma, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the cerebellum, Aplas... |
ORPHA:2162 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Abnormal corpus callosum morphology, Abnormality of the basal ganglia, Hyp... |
ORPHA:255182 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Chorioretinal coloboma, Overfolded helix, Short nose, Hypertelorism, Wide nasal b... |
OMIM:243310 |
Orofaciodigital Syndrome Xv |
|
Anteverted nares, Wide nasal bridge, Hypertelorism, Agenesis of corpus callosum |
OMIM:617127 |
Microform Holoprosencephaly |
|
Maternal diabetes, Midnasal stenosis, Holoprosencephaly, Short nose, Cyclopia, Hypotelorism, Iris... |
ORPHA:280200 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Depressed nasal bridge, Agenesis of corpus... |
OMIM:615286 |
X-Linked Intellectual Disability, Schimke Type |
|
Hearing impairment, Narrow nasal bridge, Secondary microcephaly, Cerebral cortical atrophy, Deepl... |
ORPHA:85285 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Depressed nasal ridge, Abnormality of the endocrine system, Hypertelorism, Thick corpus callosum,... |
ORPHA:464288 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... |
OMIM:617395 |
Bowen Syndrome Of Multiple Malformations |
|
Agenesis of corpus callosum, Death in childhood |
OMIM:211200 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Lissencephaly... |
OMIM:614833 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Microphthalmia, Hypoplasia of the pons, Death in childhood, Lissenceph... |
OMIM:613153 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Adrenal insufficiency, Microcephaly |
OMIM:619025 |
Peho-Like Syndrome |
|
Optic atrophy, Short nose, Pachygyria, Progressive microcephaly, Hypoplasia of the corpus callosu... |
OMIM:617507 |
Microhydranencephaly |
|
Hydranencephaly, Macrotia, Prominent nasal bridge, Pachygyria, Hypoplasia of the brainstem, Propt... |
OMIM:605013 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Aganglionic megacolon, Inferior vermis hypoplasia, Hydro... |
OMIM:304100 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Short columella, Hypertelorism, Prominent nasal bridge, W... |
OMIM:243605 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 level, Central hypothyroidism, Inappropriately normal thyroid-stimu... |
OMIM:301033 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Wide nasal bridge, Neuronal loss in the cerebral cortex, Pachygyria, Cerebellar hypoplasia, Cereb... |
ORPHA:168486 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Chorioretinal coloboma, Abnormal cerebral cortex morphology, Agenesis ... |
ORPHA:163961 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Underdeveloped nasal alae, Wide nose, Abnormal nasal bone morphology, Hypertelorism, Wide nasal b... |
ORPHA:521308 |
Acromelic Frontonasal Dysostosis |
|
Broad nasal tip, Hypertelorism, Wide nasal bridge, Bifid nose, Hypopituitarism, Cryptorchidism, H... |
OMIM:603671 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Periventricular white matter hyperintensities, Postnatal macrocephaly, Deeply set eye, Microtia |
OMIM:618158 |
Temtamy Syndrome |
|
Convex nasal ridge, Microphthalmia, Chorioretinal coloboma, Hypertelorism, Iris coloboma, Macroce... |
ORPHA:1777 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microlissencephaly, Wide nose, Hypertelorism, Wide nasal bridge, Primary microcephaly, 4-layered ... |
ORPHA:89844 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Sclerocornea, Anophthalmia, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
Joubert Syndrome 37 |
|
Microphthalmia, Wide nose, Hypertelorism, Posteriorly rotated ears, Wide nasal bridge, Cerebellar... |
OMIM:619185 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Hypertelorism, Microphthalmia, Agenesis of corpus callosum |
ORPHA:93267 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Depressed nasal bridge, Micr... |
OMIM:610829 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:300064 |
Hartsfield Syndrome |
|
Depressed nasal bridge, Lobar holoprosencephaly, Microphthalmia, Hypertelorism, Low-set, posterio... |
ORPHA:2117 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Holoprosencephaly, Hydrocephalus, Cryptorchidism, Agenesis of corpu... |
ORPHA:77298 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Conductive hearing impairment, Depressed nasal ridge, Optic atrophy, Hypotelorism, Hypertelorism,... |
OMIM:618672 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Depressed nasal bridge, Hypothalamic hamartoma, Short nose, Macrocephaly, Hydro... |
OMIM:241800 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Microphthalmia, Annular pancreas, Hypoplasia of the pons, Hypotelorism, Abnormalit... |
OMIM:616975 |
Christianson Syndrome |
|
Macrotia, Abnormality of the nose, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Deeply set... |
ORPHA:85278 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Hypoplasia of the corpus callosum, Macrotia, Microcephaly, Deeply set eye |
OMIM:300934 |
Mental Retardation, Buenos Aires Type |
|
Partial agenesis of the corpus callosum, Prominent nose, Hypertelorism, Wide nasal bridge, Hydroc... |
OMIM:249630 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Abnormal cranial nerve morphology, Holoprosencephaly, Low-set, posteriorly rotated ears, Aplasia/... |
ORPHA:990 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Coloboma, Ectopic posterior... |
OMIM:610125 |
X-Linked Intellectual Disability, Cilliers Type |
|
Macrotia, Prominent nasal bridge, Absence of secondary sex characteristics, Increased circulating... |
ORPHA:163971 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Small cerebral cortex, Optic nerve hypoplasia, Simplified gyral pattern, Microcep... |
OMIM:617914 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Short nose, Posteriorly rotated ears, Proptosis, Anteverted nares, Microce... |
ORPHA:1832 |
Al-Raqad Syndrome |
|
Short nose, Microcephaly, Deeply set eye |
OMIM:616459 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Optic atrophy, Death in infancy, Short nose, Protruding ear, Hypoplasia of the corpus callosum, M... |
ORPHA:1495 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Diffuse white matter abnormalities, Microphthalmia, Hypoplasia of the pons, Optic ... |
ORPHA:370959 |
Mmep Syndrome |
|
Cryptorchidism, Microphthalmia, Microcephaly |
ORPHA:3434 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Partial agenesis of the corpus callosum |
OMIM:233810 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Leukoencephalopathy, Prominent nasal bridge, Broad columella, Deeply set eye |
ORPHA:457365 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Short nose, Wide nasal bridge, Simplified gyral pattern, Microcephaly,... |
OMIM:615803 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Microphthalmia, Short nose, Hypertelorism, Bulbous nose, Hypoplasia of th... |
OMIM:614105 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Partial agenesis of the corpus callosum, Optic atrophy, Depressed nasal bridge, Proptosis, Microc... |
OMIM:618346 |
Desanto-Shinawi Syndrome |
|
Depressed nasal bridge, Hypertelorism, Abnormality of the pinna, Posteriorly rotated ears, Hearin... |
OMIM:616708 |
6Q25 Microdeletion Syndrome |
|
Hypertelorism, Low-set, posteriorly rotated ears, Abnormality of the pinna, Wide nasal bridge, Se... |
ORPHA:251056 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Microphthalmia, Iris coloboma |
OMIM:610023 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Short nose, Hypertelorism, Posteriorly rotated ears, Proboscis, Prominent nasal bri... |
OMIM:605627 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Death in childhood |
OMIM:613163 |
Microphthalmia, Syndromic 13 |
|
Coloboma, Microphthalmia, Microcephaly |
OMIM:300915 |
Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, ... |
OMIM:619301 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Posteriorly rotated ears, Hearing impairment, Low hanging columella, Cerebellar vermis hypoplasia... |
OMIM:618494 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Optic nerve hypoplasia, Short nose, Prominent nasal bridge, Simplified gy... |
OMIM:618828 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Hypertelorism, Macrocephaly, Agenesis of corpus callosum |
ORPHA:459074 |
Glycine Encephalopathy |
|
Death in infancy, Agenesis of corpus callosum |
OMIM:605899 |
Trisomy 1Q |
|
Depressed nasal bridge, Anophthalmia, Wide nose, Hypotelorism, Hypertelorism, Macrocephaly, Hydro... |
ORPHA:261344 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus, Cataract |
OMIM:601794 |
Williams-Beuren Region Duplication Syndrome |
|
Broad nasal tip, Overfolded helix, Cerebellar vermis hypoplasia, Macrocephaly, Hydrocephalus, Cry... |
OMIM:609757 |
17P13.3 Microduplication Syndrome |
|
Short nose, Wide nose, Hypoplasia of the corpus callosum, Hypertelorism |
ORPHA:217385 |
Holoprosencephaly 11 |
|
Holoprosencephaly, Hypotelorism, Proptosis, Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... |
OMIM:604229 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Small cerebral cortex, Hypertelorism, Posteriorly rotated ears, Wide nasal bridge, Hypoplasia of ... |
OMIM:617360 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Protruding ear, Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly |
ORPHA:2508 |
Warburg Micro Syndrome 3 |
|
Optic atrophy, Microphthalmia, Short nose, Macrotia, Microcephaly, Polymicrogyria, Secondary micr... |
OMIM:614222 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:212550 |
Holoprosencephaly 2 |
|
Aplasia of the nose, Microphthalmia, Diabetes insipidus, Holoprosencephaly, Hypotelorism, Probosc... |
OMIM:157170 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Large earlobe, Prominent nasal tip, Depressed nasal bridge, Deeply set eye, Bulbous nose, Antever... |
OMIM:616809 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Abnormal palate morphology, Hypodontia, Facial cleft, Microphthalmia, Brachycephaly, Frontal boss... |
ORPHA:1236 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia, Short nose, Hypertelorism, Macrocephaly, Ectopic posterior pituitary |
OMIM:600775 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Optic atrophy, Death in infancy, Cerebral white matter atrophy, Short nose, Hypotelorism, Cerebel... |
OMIM:615042 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentration, Reduced rad... |
ORPHA:226307 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Protruding ear, Prominent nasal bridge, Deeply set eye, Macrocephaly, Cryptorchidism, Decreased t... |
ORPHA:85279 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Optic atrophy, Depressed nasal bridge, Wide nose, Short nose, Abnormality of the pinna, Deeply se... |
OMIM:613457 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Depressed nasal bridge, Optic disc hypoplasia, Hypoplasia of the brainstem, Ma... |
ORPHA:420179 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hypertelorism, Wide nasal bridge, Macrocephaly, Hydrocephalus, Cryptorchidism, ... |
OMIM:175700 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Hypoplasia of the pons, Optic nerve hypoplasia, Dilation of lateral ve... |
OMIM:618736 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Short nose, Hypertelorism, Posteriorly rotated ears, Hypoplasia of the corpus ... |
OMIM:300887 |
Jaberi-Elahi Syndrome |
|
Optic atrophy, Depressed nasal bridge, Short nose, Protruding ear, Agenesis of corpus callosum, M... |
OMIM:617988 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Chorioretinal coloboma, Short nose, Posteriorly rotated ears, Hearing imp... |
ORPHA:284169 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Wide nasal bridge, Simplified gyral pattern, Deeply set eye, Sensorineural hearing impairment, Pa... |
OMIM:615966 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Facial diplegia, Decreased sensory nerve conduction ve... |
OMIM:218000 |
Isolated Dandy-Walker Malformation |
|
Frontal bossing, Prominent occiput, Cleft palate, Platybasia |
ORPHA:217 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Rieger anomaly, Hypertelorism, Sensorineural hearing impairm... |
OMIM:109120 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Simplified gyral pattern, Deeply set e... |
OMIM:610758 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Microphthalmia, Hypertelorism, Prominent nasal bridge, Posteriorly rot... |
OMIM:614424 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Miller-Dieker Syndrome |
|
Short nose, Lissencephaly, Anteverted nares, Hypoplasia of the corpus callosum, Cerebral cortical... |
ORPHA:531 |
Bresek Syndrome |
|
Protruding ear, Aganglionic megacolon, Convex nasal ridge, Microphthalmia, Optic nerve hypoplasia... |
ORPHA:85284 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Short nose, Progressive microcephaly, Hypoplasia of the corpus callosum, ... |
OMIM:617802 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Prominent nose, Macrotia, Deeply set eye, Premature ovarian insufficiency, Abnormal cerebral whit... |
ORPHA:391307 |
Lissencephaly 6 With Microcephaly |
|
Partial agenesis of the corpus callosum, Microlissencephaly, Macrotia, Simplified gyral pattern, ... |
OMIM:616212 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Diabetes insipidus, Septo-optic dysplasia, Abnormality of the hypothalamus-pitu... |
ORPHA:95496 |
Parietal Foramina 1 |
|
Cleft upper lip, Cleft palate, Symmetrical, oval parietal bone defects, Parietal foramina |
OMIM:168500 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Broad nasal tip, Depressed nasal bridge, Hypoplasia of t... |
OMIM:222448 |
Mucolipidosis Iv |
|
Hypergastrinemia, Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly |
OMIM:252650 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Ke... |
ORPHA:2334 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Microphthalmia, Remnants of t... |
OMIM:614643 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Hypertelorism, Macrotia, Wide nasal bridge, Deeply set eye, Bulbous nose, Microcephaly |
ORPHA:261304 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad nasal tip, Posteriorly rotated ears, Wide nasal base, Sensorineural hearing impairment, Bro... |
OMIM:617763 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ectopia lentis, Short nose, Microcephaly, Deeply set eye |
ORPHA:833 |
Coach Syndrome 2 |
|
Chorioretinal coloboma, Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Agenesis of corpus... |
OMIM:619111 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Partial agenesis of the corpus callosum, Posteriorly rotated ears, Primary microcephaly, Cerebell... |
OMIM:616819 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Simplified gyral pattern, Pachygyria, Cerebral atrophy, Microcephaly |
OMIM:251270 |
Craniosynostosis 6 |
|
Dandy-Walker malformation, Hypertelorism, Abnormal corpus callosum morphology, Sensorineural hear... |
OMIM:616602 |
Cornelia De Lange Syndrome 5 |
|
Broad nasal tip, Depressed nasal bridge, Hypertelorism, Prominent nasal bridge, Hearing impairmen... |
OMIM:300882 |
Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Hypogonadotropic hypogonadism, Dysgenesis o... |
ORPHA:238722 |
Rhyns Syndrome |
|
Hearing impairment, Deeply set eye, Hypopituitarism |
ORPHA:140976 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... |
OMIM:300888 |
14Q22Q23 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Diabetes insipidus, Anophthalmia, Hypertelorism, Abnormality of the hy... |
ORPHA:264200 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos, Cataract |
OMIM:608763 |
Borjeson-Forssman-Lehmann Syndrome |
|
Macrotia, Deeply set eye, Cryptorchidism, Delayed puberty, Microcephaly |
OMIM:301900 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Short nose, Short columella, Hypertelorism, Abnormality of the septum pel... |
ORPHA:171839 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral white matter atrophy, Hypertelorism, Deeply set eye, Microcephaly, Sensorineural hearing... |
ORPHA:464282 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Megalencephaly, Abnormal corpus callosum morphology, Abnormality of t... |
ORPHA:280195 |
Chromosome 3Q29 Duplication Syndrome |
|
Short nose, Wide nasal bridge, Abnormally large globe, Bulbous nose, Macrocephaly, Microcephaly |
OMIM:611936 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Iris coloboma, Sensorineural hearing impairment, Choanal atresia, ... |
OMIM:147950 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Hypertelorism, Macrotia, Alobar holoprosencephaly, Cryptorchidism, Decreased testicular size, Age... |
OMIM:615433 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Increased circulating gonadotropin level, Hypogonadism, Bulbous nose, Cryptorchidism, Decreased t... |
OMIM:300869 |
Ssr4-Cdg |
|
Macrotia, Absent septum pellucidum, Deeply set eye, Abnormal periventricular white matter morphol... |
ORPHA:370927 |
Treacher-Collins Syndrome |
|
Cleft palate, High palate, Wide mouth, Open bite, Facial cleft, Rectovaginal fistula, Cleft upper... |
ORPHA:861 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract |
ORPHA:1473 |
Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Bulbous nose, Premature ovarian insufficiency, Cryptorchidism, Decreased testicular... |
ORPHA:261483 |
Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Depressed nasal bridge, Agenesis of corpus callosum, Microcephaly |
ORPHA:261519 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Low-set, posteriorly rotated ears, Primary microcephaly, Cerebellar vermis hypoplasia, Anteverted... |
ORPHA:466688 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Dysgenesis of the hippocampus, Macrotia, Noncommunicating hydrocephalus, Posteriorly rotated ears... |
OMIM:619320 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Agyria, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:616342 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic atrophy, Optic disc pallor, Short nose, Hypertelorism, Wide nasal bridge, Frontal cortical ... |
OMIM:618437 |
Microphthalmia, Isolated 8 |
|
Coloboma, Optic nerve hypoplasia, Microphthalmia |
OMIM:615113 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Nizon-Isidor Syndrome |
|
Depressed nasal bridge, Hypertelorism, Prominent nasal bridge, Iris coloboma, Bulbous nose, Antev... |
OMIM:618872 |
Isolated Exencephaly |
|
Maternal diabetes, Depressed nasal bridge, Posterior pituitary agenesis, Holoprosencephaly, Aplas... |
ORPHA:563612 |
Foxg1 Syndrome |
|
Optic disc hypoplasia, Abnormal corpus callosum morphology, Pachygyria, Progressive microcephaly,... |
ORPHA:561854 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume, Hypoplasia of the olfactory bulb, Abnormality of the basal ganglia |
OMIM:618646 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Failure of eruption of permanent teeth, Hypoplasia of the olfactory bulb, Anophth... |
ORPHA:2250 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Agenesis of corpus callosum, Goiter |
OMIM:225040 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Short nose, Hypertelorism, Posteriorly rotated ears, Iris coloboma, Senso... |
ORPHA:2143 |
Mental Retardation, Autosomal Recessive 45 |
|
Wide nasal bridge, Deeply set eye |
OMIM:615979 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Dandy-Walker malformation, Microphthalmia, Anencephaly, Hypertelorism, Posteriorly rotated ears, ... |
OMIM:619148 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy |
OMIM:614924 |
Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Abnormality of the hypothalamus-pituitary axis, Low-set, posteriorly rotat... |
ORPHA:220497 |
Oculocerebrodental Syndrome |
|
Conductive hearing impairment, Dysplastic corpus callosum, Depressed nasal bridge, Wide nasal bri... |
ORPHA:557003 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia, Leukoencephalopathy, Polymicrogyria, Cataract, Hydrocepha... |
OMIM:615181 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Underdeveloped nasal alae, Depressed nasal bridge, Microphthalmia, Agenesis of cerebellar vermis,... |
ORPHA:228390 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic atrophy, Death in infancy, Microcephaly, Cerebral atrophy, Deeply set eye |
OMIM:614388 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Cleft palate, Stomach cancer |
OMIM:137215 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal corpus striatum morphology, Abnormal globus pallidus morphology, Abnormal caudate nucleu... |
ORPHA:397725 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Death in childhood, Hypoplastic hippocampus, Thin corpus... |
OMIM:619517 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... |
OMIM:618157 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Holoprosencephaly, Abnormality of the pinna, Cryptorchidism, Agenesis of corpus callosum, Microce... |
OMIM:610680 |
Pituitary Carcinoma |
|
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... |
ORPHA:300385 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Depressed nasal bridge, Microphthalmia, Hypertelorism, Posteriorly rotated ears, Microtia, Crypto... |
OMIM:616734 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Orthostatic hypotension, Focal T2 hyperintense basal ganglia lesion, Abnorm... |
ORPHA:2822 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia, Leukoencephalopathy, Hypergonadotropic hypogonadism, Abnormality of thalamus morphology |
OMIM:613724 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, Cerebellar hypo... |
OMIM:619072 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia, Deep philtrum, Frontal ... |
OMIM:206920 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Broad nasal tip, Depressed nasal bridge, Wide nasal bridge, Deeply set eye, Pseudohypoparathyroid... |
OMIM:617157 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Underdeveloped nasal alae, Optic disc pallor, Diabetes insipidus, Hypertelorism, Aplasia/Hypoplas... |
ORPHA:423479 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Abnormal globus pallidus morphology, Hypertelorism, Hypoplasia of the corpus callosum, Agenesis o... |
OMIM:618603 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Flared nostrils, Wide nose, Hypertelorism, Hypergonadotropic hypogonadism, Decreased response to ... |
ORPHA:280679 |
Chromosome 5P13 Duplication Syndrome |
|
Hypotelorism, Hypertelorism, Wide nasal bridge, Bulbous nose, Macrocephaly, Proptosis, Agenesis o... |
OMIM:613174 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Broad nasal tip, Hypoplasia of the olfactory bulb, Thick nasal alae, Hypertelorism, ... |
ORPHA:1827 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia, Sclerocornea, Post... |
OMIM:610256 |
Temtamy Syndrome |
|
Convex nasal ridge, Chorioretinal coloboma, Ectopia lentis, Hypertelorism, Iris coloboma, Lens lu... |
OMIM:218340 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Hypoplasia of the corpus callosum, Deeply set eye |
OMIM:618381 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Hypertelorism, Optic atrophy, Microcephaly |
OMIM:245349 |
Mental Retardation, Autosomal Dominant 7 |
|
Hypotelorism, Macrotia, Abnormality of the pinna, Deeply set eye, Microcephaly, Bulbous nose, Thi... |
OMIM:614104 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Adrenal insufficiency, Agenesis of corpus callosum, Caudate atrophy |
OMIM:618238 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Holoprosencephaly, Short nose, Cyclopia, Sensorineural hearing impairment... |
ORPHA:261236 |
Even-Plus Syndrome |
|
Depressed nasal ridge, Dysplastic corpus callosum, Short nose, Microtia, Bifid nasal tip, Agenesi... |
OMIM:616854 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Colpocephaly, Overfolded helix, Short nose, Hearing impairment, Microti... |
OMIM:618619 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Short nose, Macrotia, Microcephaly |
OMIM:617061 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Depressed nasal bridge, Short nose, Hypertelorism, Cryptorchidism,... |
OMIM:616910 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Hypoplasia of the brainstem, Hydrocephalus, Cerebella... |
OMIM:225790 |
Trisomy 13 |
|
High, narrow palate, Cleft palate, Microphthalmia, Long philtrum, Anophthalmia, Aplasia/Hypoplasi... |
ORPHA:3378 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bulbous nose, Microcephaly, Deeply set eye |
OMIM:612474 |
Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Trigonocephaly, Prominent metopic ridge, Brachycephaly |
OMIM:275595 |
Oculocerebrocutaneous Syndrome |
|
Facial cleft, Wide mouth, Calvarial skull defect, Oral cleft |
ORPHA:1647 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Decreased testicular size, Hypoplasia of the brainstem, H... |
OMIM:615287 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly |
OMIM:619466 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Corticospinal tract hypoplasia, Absent septum pellucidum, Macrocephaly, Hydrocephalus, Agenesis o... |
OMIM:307000 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Holoprosencephaly, Hypertelorism, Proptosis, Cyclopia, Microcephaly |
ORPHA:2165 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Retinal coloboma, Abnormality of the hypothalamus-pituitary axis, Low-set,... |
ORPHA:220493 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Primary microcephaly |
OMIM:245570 |
Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
Xk Aprosencephaly Syndrome |
|
Hypotelorism, Microphthalmia, Abnormality of the nares, Microcephaly |
ORPHA:3469 |
14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypertelorism, Short nose, Low-set, posteriorly rotated ears, Deeply set eye |
ORPHA:261120 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Congenital hypoparathyroidism, Depressed nasal bridge, Convex nasal ridge, Posteriorly rotated ea... |
OMIM:241410 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Microcephaly, Deeply set eye |
ORPHA:85280 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Optic atrophy, Microphthalmia, Short nose, Macrotia, Mic... |
OMIM:234050 |
Hyperthyroidism, Familial Gestational |
|
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level |
OMIM:603373 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Microcephaly |
ORPHA:2512 |
Cleft Palate, Isolated |
|
Increased overbite, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Lissencephaly, X-Linked, 2 |
|
Prominent nasal bridge, Wide nasal bridge, Pachygyria, Lissencephaly, Decreased testicular size, ... |
OMIM:300215 |
4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypertelorism, Hearing impairment, Cerebellar hypoplasia, Agenesis of cor... |
ORPHA:238750 |
Craniosynostosis 2 |
|
Brachyturricephaly, Brachycephaly, Cleft soft palate, Trigonocephaly, Supernumerary tooth, Cranio... |
OMIM:604757 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Narrow nose, Depressed nasal bridge, Short nose, Hypotelorism, Posteriorly rotated ears, Prominen... |
OMIM:618454 |
Perlman Syndrome |
|
Short nose, Posteriorly rotated ears, Wide nasal bridge, Anteverted nares, Macrocephaly, Abnormal... |
ORPHA:2849 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Ectopic posterior pi... |
ORPHA:67045 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Hypointensity of cerebral white matter on MRI, Depressed nasal bridge, Hypertelorism, Macrocephal... |
OMIM:300860 |
Heart And Brain Malformation Syndrome |
|
Dandy-Walker malformation, Depressed nasal bridge, Microphthalmia, Global brain atrophy, Hypertel... |
OMIM:616920 |
Amish Lethal Microcephaly |
|
Optic atrophy, Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Lissencephaly, Agene... |
ORPHA:99742 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Hypertelorism, Short nose, Deeply set eye, Cerebellar hypoplasia, Microcephaly |
OMIM:618087 |
Microgastria-Limb Reduction Defects Association |
|
Arrhinencephaly, Anophthalmia, Absent gallbladder, Polymicrogyria, Porencephalic cyst, Cryptorchi... |
OMIM:156810 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Hypertelorism, Hypergonadotropic hypogonadism, Decreased response to growth hormone st... |
OMIM:300845 |
Cog2-Cdg |
|
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... |
ORPHA:435934 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Convex nasal ridge, Hearing impairment, Microcephaly, Deeply set eye |
OMIM:610965 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Depressed nasal bridge, Hypertelorism, Ce... |
ORPHA:459061 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Male hypogonadism, Subcortical white matter calc... |
ORPHA:90322 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Neonatal death, Short nose, Wide nasal bridge, Anteverted nares, Dilation... |
OMIM:610015 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Microphthalmia, Septo-optic dysplasia, Iris coloboma, Aplasia/Hypoplasia involving... |
ORPHA:3301 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Hypertelorism, Prominent nasal bridge, Sensorineural hearing impairment, Bilatera... |
OMIM:618652 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal cerebral cortex morphology, Abnormal hypothalamus morphology, Facial palsy, Encephalomal... |
ORPHA:68 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Wide nose, Hypertelorism, Recurrent upper respiratory tract infections, Depressed... |
ORPHA:2399 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge, Microcephaly |
OMIM:200130 |
Fumarase Deficiency |
|
Optic atrophy, Depressed nasal bridge, Hypertelorism, Hypoplasia of the brainstem, Polymicrogyria... |
OMIM:606812 |
Verheij Syndrome |
|
Short nose, Wide nasal bridge, Cerebral atrophy, Coloboma, Microcephaly |
OMIM:615583 |
Stevenson-Carey Syndrome |
|
Underdeveloped nasal alae, Prominent nasal tip, Microphthalmia, Posteriorly rotated ears, Cerebel... |
OMIM:611961 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Short nose, Bulbous nose, Abnormal antihelix morphology, Protruding ear, ... |
ORPHA:261144 |
Vici Syndrome |
|
Optic atrophy, Death in infancy, Hypoplasia of the pons, Hypotelorism, Hypertelorism, Sensorineur... |
ORPHA:1493 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Short nose, Hypertelorism, Deeply set eye, Aplasia/Hypoplasia of the cere... |
ORPHA:1812 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Facial cleft, Large fontanelles, Microphthalmia, Intestinal malrotatio... |
ORPHA:99776 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Optic atrophy, Depressed nasal bridge, Long nose, Short nose, Posteriorly rotated ears, Cerebella... |
OMIM:618590 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:614082 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Anencephaly, Hydrocephalus |
OMIM:614120 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... |
OMIM:604360 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Hypotelorism, Microcephaly, Deeply set eye |
ORPHA:276422 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Abnormality of globe location, Deeply set eye, Abnormal cerebral white matter morphology |
ORPHA:576283 |
Mental Retardation, Autosomal Dominant 29 |
|
High palate, Brachycephaly, Narrow palate, Thin upper lip vermilion, Dental crowding |
OMIM:616078 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... |
ORPHA:2182 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Leukoencephalopathy, Basal ganglia calcification, T2 hypointense thalamus, Hypop... |
OMIM:618193 |
Trisomy 9P |
|
Hypertelorism, Macrotia, Deeply set eye, Impacted tooth, Protruding ear, Abnormal nasal morpholog... |
ORPHA:236 |
Congenital Toxoplasmosis |
|
Microphthalmia, Hearing impairment, Hydrocephalus, Cerebral calcification, Microcephaly |
ORPHA:858 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nose, Hearing impairment, Hypogonadism, Short nasal septum, Anosmia... |
OMIM:302950 |
Mental Retardation, X-Linked, Syndromic 12 |
|
Thick lower lip vermilion, Thick upper lip vermilion, Wide mouth, Brachycephaly |
OMIM:309545 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Optic atrophy, Depressed nasal bridge, Aplasia/Hypoplasia of the cerebellum, Macrocephaly, Polymi... |
ORPHA:60040 |
20P13 Microdeletion Syndrome |
|
Hypertelorism, Prominent nasal bridge, Posteriorly rotated ears, Deeply set eye, Macrocephaly, Mi... |
ORPHA:313781 |
Radio-Tartaglia Syndrome |
|
Large earlobe, Conductive hearing impairment, Prominent nasal tip, Depressed nasal bridge, Hypert... |
OMIM:619312 |
Curry-Jones Syndrome |
|
Microphthalmia, Megalencephaly, Hemimegalencephaly, Polymicrogyria, Coloboma, Agenesis of corpus ... |
OMIM:601707 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Basal ganglia gliosis, Basal gan... |
ORPHA:79243 |
Leukodystrophy, Hypomyelinating, 10 |
|
Short nose, Hearing impairment, Microcephaly, Progressive microcephaly, Bulbous nose, Cerebral at... |
OMIM:616420 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deeply set eye, Aplasia/Hypoplasia involving the central nervous system, Microcephaly, Hearing im... |
OMIM:278760 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormality of the pinna, Prominent nasal bridge, Optic disc coloboma, Hearing impairment, Sensor... |
ORPHA:52055 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Joubert Syndrome 22 |
|
Microphthalmia, Hypoplasia of the corpus callosum, Temporal cortical atrophy |
OMIM:615665 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Cerebral hypoplasia, Abnormal periventri... |
ORPHA:468631 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Abnormal palate morphology, Smooth philtrum, Facial cleft, Abnormality of the dent... |
ORPHA:1786 |
Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Diabetes insipidus, Septo-optic dysplasia, Optic nerve hypoplasia, Abnormality... |
ORPHA:3157 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Microphthalmia, Retinal coloboma, Posteriorly rotated ears, Iris colo... |
ORPHA:2328 |
Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Dilation of lateral ventricles, Bilateral micr... |
ORPHA:77299 |
Warburg Micro Syndrome 2 |
|
Optic atrophy, Microphthalmia, Asymmetry of the ears, Global brain atrophy, Short nose, Macrotia,... |
OMIM:614225 |
Galloway-Mowat Syndrome 5 |
|
Hypertelorism, Hearing impairment, Microcephaly, Pachygyria, Deeply set eye |
OMIM:617731 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Hypogonadotropic hypogonadism, Delayed eruption of teeth, Deeply set eye, Autonomi... |
ORPHA:447896 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Cortical dysplasia, Deeply set eye |
ORPHA:261272 |
Emanuel Syndrome |
|
Macrotia, Hearing impairment, Low hanging columella, Deeply set eye, Delayed eruption of primary ... |
OMIM:609029 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Periventricular cysts, Deeply set eye, Hypothyroidism, Hypopituitarism, Microcephaly |
OMIM:619013 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Cryptorchidism, Decreased testicular size |
OMIM:614880 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Wide nasal bridge, Deeply set eye, Sensorineural hearing impairment, Iris colobom... |
ORPHA:250989 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Chorioretinal coloboma, Hypertelorism, Bifid nose, Hearing impairment, Anotia, Ir... |
ORPHA:268249 |
Non-Distal Trisomy 13Q |
|
Short nose, Hypotelorism, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the earlobe... |
ORPHA:1702 |
Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Hypertelorism, Bulbous nose, Uplifted earlobe, Agenesis of corpus callosum |
OMIM:618779 |
Wolfram-Like Syndrome |
|
Male hypogonadism, Diabetes mellitus, Hypothyroidism, Central diabetes insipidus, Primary gonadal... |
ORPHA:411590 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Hypoplasia of the corpus callosum, Deeply set eye |
ORPHA:521390 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Septo-optic dysplasia, Agenesis of cerebellar vermis, Short nose, Low-set,... |
ORPHA:59315 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Hypertelorism, Macrot... |
ORPHA:544488 |
Bangstad Syndrome |
|
Convex nasal ridge, Increased circulating cortisol level, Polycystic ovaries, Deeply set eye, Abn... |
ORPHA:1227 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
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Anteverted nares, Basal ganglia cysts, Posteriorly rotated ears, Agenesis of corpus callosum |
OMIM:613623 |
Alkuraya-Kucinskas Syndrome |
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Depressed nasal bridge, Short nose, Hypotelorism, Posteriorly rotated ears, Hypertelorism, Hypopl... |
OMIM:617822 |
Bardet-Biedl Syndrome 7 |
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Hypogonadism, Hypertelorism, Depressed nasal bridge, Deeply set eye |
OMIM:615984 |
Meckel Syndrome 12 |
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Wide nasal bridge, Cerebellar hypoplasia, Anteverted nares, Cerebral hypoplasia, Agenesis of corp... |
OMIM:616258 |
Luo-Schoch-Yamamoto Syndrome |
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Depressed nasal bridge, Wide nose, Hypertelorism, Abnormality of the pinna, Primary microcephaly,... |
OMIM:619460 |
Wilson-Turner Syndrome |
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Broad nasal tip, Hypogonadotropic hypogonadism, Microtia, Cryptorchidism, Deeply set eye |
ORPHA:3459 |
Ring Chromosome 22 Syndrome |
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Macrotia, Wide nasal base, Absent septum pellucidum, Bulbous nose, Agenesis of corpus callosum, M... |
ORPHA:1446 |