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 |
|
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... |
OMIM:611638 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia |
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, Anophthalmia, Facial cleft, Microphthalmia |
OMIM:600776 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Sclerocornea, Microphthalmia |
OMIM:611038 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract, Microphthalmia |
OMIM:610092 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microphthalmia |
OMIM:251505 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Facial cleft, Cleft palate |
OMIM:600251 |
Frontonasal Dysplasia 3 |
|
Brachycephaly, Facial cleft, Cleft palate, Microphthalmia |
OMIM:613456 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:95494 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Optic nerve hypoplasia, Brachyturricephaly, F... |
OMIM:607597 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Agen... |
OMIM:617542 |
Cerebrooculonasal Syndrome |
|
High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Anophthalmia, Widely space... |
ORPHA:66625 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia |
OMIM:613094 |
Anencephaly 2 |
|
Anophthalmia, Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Hypotelorism, Decreased response to growth hormone stimulation t... |
OMIM:147250 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia |
OMIM:610623 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Anophthalmia, Bilateral cleft lip and palate, Facial cleft, Non-midline cleft lip |
ORPHA:1104 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Bulbous nose, Cerebral atrophy, Absent septum pellucidum, Microcephaly, Hypoplasia of the corpus ... |
OMIM:618492 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia |
OMIM:604219 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Gombo Syndrome |
|
Delayed puberty, Microphthalmia |
OMIM:233270 |
3Q13 Microdeletion Syndrome |
|
Macrocephaly, Hypertelorism, Anteverted nares, Cryptorchidism, Agenesis of corpus callosum, Wide ... |
ORPHA:1621 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea, Microphthalmia |
ORPHA:2432 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft ala nasi, Anophthalmia, Hypoplasia of the corpus callosum, Microphth... |
OMIM:164180 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Low-set ears, Bulbous nose, Frontal cortical atrophy, Depressed nasal bridge, Microcephaly, Parie... |
OMIM:618766 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Low-set ears, Deeply set eye, Cerebral atrophy, Microcephaly, Macroti... |
OMIM:600118 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Lissencephaly 4 |
|
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... |
OMIM:614019 |
Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Bulbous nose, Hypertelorism, Microcephaly, Cerebellar hypoplasia, Macrotia, Simplified gyral patt... |
OMIM:617090 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cerebellar vermis, Low-set ears, Posterior... |
OMIM:300864 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callos... |
OMIM:604213 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Cleft palate, Abnormality of the dentition, Facial cleft, M... |
ORPHA:1794 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... |
OMIM:614039 |
Frontonasal Dysplasia 1 |
|
Low-set ears, Conductive hearing impairment, Broad nasal tip, Bifid nose, Coloboma, Bifid nasal t... |
OMIM:136760 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... |
OMIM:608716 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Cerebral atrophy, Microcephaly, Coloboma, Optic atrophy, Microphthalmia, Agenesis of corpus callosum |
OMIM:274270 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thickened helices, Low-set ears, Deeply set eye, Hypertelorism, Supernumerary nipple, Macrocephal... |
OMIM:618929 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... |
OMIM:610031 |
Frontofacionasal Dysplasia |
|
Cleft palate, Non-midline cleft lip, Facial cleft, Microphthalmia, Brachycephaly, Midface retrusion |
ORPHA:1791 |
Hydrolethalus |
|
Low-set ears, Hydrocephalus, Deeply set eye, Absent septum pellucidum, Abnormality of the sense o... |
ORPHA:2189 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Microphthalmia |
OMIM:614402 |
Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... |
ORPHA:83461 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Macrocephaly, Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Primary mic... |
ORPHA:300570 |
Acrofacial Dysostosis, Weyers Type |
|
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... |
ORPHA:952 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Macrocephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Hypertelorism, Agenesis of cor... |
ORPHA:166024 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:615524 |
Band Heterotopia |
|
Hydrocephalus, Macrocephaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus cal... |
OMIM:600348 |
Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Meckel Syndrome, Type 8 |
|
Low-set ears, Depressed nasal ridge, Microcephaly, Anophthalmia, Short nose, Microphthalmia, Ence... |
OMIM:613885 |
Holoprosencephaly 7 |
|
Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Macrocephaly, Holoprosencephaly, Panhypopi... |
OMIM:610828 |
Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus, Microphthalmia |
ORPHA:141333 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Large earlobe, Sensorineural hearing impairment, Broad nasal tip, Hypoplasia of the corpus callos... |
OMIM:612948 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cer... |
OMIM:613153 |
Developmental And Epileptic Encephalopathy 88 |
|
Depressed nasal bridge, Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial ag... |
OMIM:618959 |
Mental Retardation Syndrome, Belgian Type |
|
Deeply set eye, Hypergonadotropic hypogonadism, Cleft ala nasi, Coloboma, Wide nose, Diabetes mel... |
OMIM:249599 |
Lissencephaly 3 |
|
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Cerebellar vermis hypopl... |
OMIM:611603 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Large earlobe, Bulbous nose, Hypoplasia of the corpus callosum, Hypertelorism, Agenesis of corpus... |
ORPHA:262767 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Coloboma, Microphthalmia |
OMIM:120433 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Hypertelorism, Hypoplasia of the corpus callosum, Short nose, Proptosis, Anteverte... |
OMIM:618577 |
Schizencephaly |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly |
OMIM:269160 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Hypertelorism, Abnormal hypothalamus morphology, Microcephaly... |
ORPHA:314621 |
Corpus Callosum, Agenesis Of |
|
Microcephaly, Macrocephaly, Agenesis of corpus callosum |
OMIM:217990 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Microphthalmia, Sclerocornea |
OMIM:269400 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Arrhinencephaly, Cerebellar hypoplasia,... |
ORPHA:1528 |
Septooptic Dysplasia |
|
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Optic nerve hypo... |
OMIM:182230 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae, Microphthalmia |
OMIM:156900 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
Acromelic Frontonasal Dysostosis |
|
Hypertelorism, Cryptorchidism, Encephalocele, Broad nasal tip, Bifid nose, Hypoplasia of the corp... |
OMIM:603671 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Microphthalmia, Cho... |
ORPHA:231736 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Frontal bossing, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... |
OMIM:609698 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Narrow mouth, Facial cleft, Cleft palate |
OMIM:239800 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hydrocephalus, Type II diabetes mellitus, Abnormal hypothalamus morphol... |
ORPHA:54595 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Hydrocephalus, Occipital encephalocele, Microphthalmia |
ORPHA:324416 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Bilateral cleft lip and palate, Facial cleft |
OMIM:601357 |
Walker-Warburg Syndrome |
|
Low-set ears, Hydrocephalus, Protruding ear, Macrocephaly, Pachygyria, Absent septum pellucidum, ... |
ORPHA:899 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Sensorineural hearing impairment, Deeply set eye, Basal ganglia calcification, Microcephaly, Deat... |
OMIM:214150 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Agenesis of corpus callosum, ... |
ORPHA:139471 |
Trisomy 1Q |
|
Low-set ears, Hydrocephalus, Hypotelorism, Hypertelorism, Macrocephaly, Depressed nasal bridge, A... |
ORPHA:261344 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal ce... |
ORPHA:101029 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum, Decreased response to growth h... |
OMIM:615286 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Microcephaly, Cryptorchidism, Simplified gyral pattern, Agenesis of corpus callosum |
OMIM:616681 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Low-set ears, Decreased response to growth hormone stimulation test, Cerebral atrophy, Depressed ... |
OMIM:616430 |
Microform Holoprosencephaly |
|
Hypotelorism, Holoprosencephaly, Panhypopituitarism, Microcephaly, Maternal diabetes, Narrow nasa... |
ORPHA:280200 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:171703 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Depressed nasa... |
ORPHA:2162 |
Craniotelencephalic Dysplasia |
|
Hypotelorism, Absent septum pellucidum, Optic nerve hypoplasia, Agenesis of corpus callosum, Arrh... |
OMIM:218670 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:2528 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... |
OMIM:614963 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death in infancy, ... |
OMIM:619302 |
Pettigrew Syndrome |
|
Sensorineural hearing impairment, High-frequency hearing impairment, Hydrocephalus, Deeply set ey... |
OMIM:304340 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Bulbous nose, Broad nasal tip, Anophthalmia, Hypoplasia of th... |
ORPHA:411986 |
Lissencephaly, X-Linked, 1 |
|
Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus callosum |
OMIM:300067 |
Masa Syndrome |
|
Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum |
OMIM:303350 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Triopia |
|
Cleft palate, Dolichocephaly, Midline facial cleft, Frontal bossing, Median cleft lip |
ORPHA:3374 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Anophthalmia, Iris coloboma, Microphthalmia, Agenesis of corpus... |
ORPHA:77298 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Macrocephaly, Umbilical hernia, Hypertelorism, Agenesis of corpus callosum, Wide n... |
ORPHA:380 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Low-set ears, Microphthalmia, Cryptorchidism, Hypertelorism, Depressed nasal bridge, Bifid nose, ... |
ORPHA:228390 |
Baraitser-Winter Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Hypertelorism, Pachygyria, Overfolded helix, Micr... |
OMIM:243310 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Frontal bossing, Plagiocephaly, Brachycephaly |
OMIM:300064 |
Non-Distal Trisomy 10Q |
|
Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Hypertelorism, Depressed nasal bridge, ... |
ORPHA:1695 |
Pierpont Syndrome |
|
Large fleshy ears, Deeply set eye, Hypertelorism, Broad nasal tip, Microcephaly, Hearing impairme... |
OMIM:602342 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the... |
ORPHA:370959 |
Holoprosencephaly 9 |
|
Hydrocephalus, Hypotelorism, Decreased response to growth hormone stimulation test, Cryptorchidis... |
OMIM:610829 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hearing impairment, Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of... |
ORPHA:401830 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flared nostrils, Cerebral atrophy, Basal ganglia cysts, Microcephaly, Anteverted nares, Agenesis ... |
OMIM:312170 |
Imagawa-Matsumoto Syndrome |
|
Macrocephaly, Hypertelorism, Polymicrogyria, Umbilical hernia, Cryptorchidism, Agenesis of corpus... |
OMIM:618786 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele, Bifid nasal tip, Wide nose, Choanal atresia, Underdeveloped nasal alae, Hy... |
ORPHA:521308 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum, Death in infancy |
ORPHA:85334 |
Forsythe-Wakeling Syndrome |
|
Deeply set eye, Microcephaly, Macrotia, Low-set ears, Prominent nasal bridge |
OMIM:613606 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma, Microphthalmia |
OMIM:610023 |
Baraitser-Winter Syndrome 2 |
|
Abnormal pinna morphology, Hypertelorism, Coloboma, Hearing impairment, Lissencephaly, Microphtha... |
OMIM:614583 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Microphthalmia |
OMIM:278780 |
Joubert Syndrome 14 |
|
Low-set ears, Hydrocephalus, Deeply set eye, Hypertelorism, Coloboma, Posteriorly rotated ears, M... |
OMIM:614424 |
Microhydranencephaly |
|
Microcephaly, Cerebellar hypoplasia, Proptosis, Macrotia, Pachygyria, Hydranencephaly, Prominent ... |
OMIM:605013 |
Pierpont Syndrome |
|
Uplifted earlobe, Deeply set eye, Hypertelorism, Macrotia, Abnormal cortical gyration, Hearing im... |
ORPHA:487825 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Cataract, Microphthalmia |
OMIM:601794 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Low-set ears, Hypertelorism, Posteriorly rotated ears, Agenesis of corpus callosum |
OMIM:619548 |
Alazami Syndrome |
|
Deeply set eye, Depressed nasal bridge, Microcephaly, Wide nose, Low-set ears, Wide nasal bridge |
OMIM:615071 |
Stromme Syndrome |
|
Low-set ears, Hydrocephalus, Stillbirth, Deeply set eye, Optic nerve hypoplasia, Microcephaly, Ce... |
OMIM:243605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Sensorineural hearing impairment, Hydrocephalus, Abnormally large globe, Microcephaly, Cerebellar... |
OMIM:615249 |
Pituicytoma |
|
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... |
ORPHA:251623 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Hypoplasia of the fovea, Microcornea, Rieger anomaly, Hypoplasia of the ir... |
OMIM:604229 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Deeply set eye, Microcephaly, Short nose, Macrotia, Anteverted nares, Prominent na... |
OMIM:300558 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Deeply set eye, Macrocephaly, Microtia, Neonatal death, Anteverted nares, Underdeveloped nasal alae |
OMIM:612138 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly, Adrenal insufficiency |
OMIM:619025 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Iris coloboma, Cataract, Microphthalmia |
OMIM:212550 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401820 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the pons, Optic atrophy, Hearing impairmen... |
OMIM:617669 |
Cofs Syndrome |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Microphthalmia, Cerebral calcificati... |
ORPHA:1466 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Temporal cortical atrophy, Deeply set eye, Frontal cortical atrophy, Aplasia/Hypoplasia of the ce... |
ORPHA:137831 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Bulbous nose, Dysplastic corpus callosum, Small basal ganglia, Cerebral atrophy, Deeply set eye, ... |
OMIM:616900 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Microcephaly, Optic atrophy, Optic disc pallor, Proptosis, Prominent nose, Micr... |
OMIM:616171 |
Holoprosencephaly 5 |
|
Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depres... |
OMIM:609637 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Microcephaly, Short nose, Delayed puberty |
ORPHA:217340 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Deeply set eye, Macrocephaly, Decreased response to growth hormone stimulation tes... |
OMIM:609757 |
Ventriculomegaly And Arthrogryposis |
|
Cerebellar hypoplasia, Agenesis of corpus callosum |
OMIM:619501 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Hypodontia, Lip pit, Frontal bossing, Facial cleft, Microphthalmia, Abnormal palate morphology, B... |
ORPHA:1236 |
Mental Retardation, Buenos Aires Type |
|
Low-set ears, Hydrocephalus, Protruding ear, Microcephaly, Partial agenesis of the corpus callosu... |
OMIM:249630 |
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 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sensorineural hearing impairment, Deeply set eye, Broad nasal tip, Broad columella, Hypothyroidis... |
OMIM:617763 |
Pontocerebellar Hypoplasia, Type 6 |
|
Deeply set eye, Cerebral atrophy, Microcephaly, Death in childhood, Cerebellar hypoplasia, Progre... |
OMIM:611523 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Thyroid hypoplasia, Umbilica... |
ORPHA:226307 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Low-set ears, Hypertelorism, Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the c... |
ORPHA:89844 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Hypertelorism, Microphthalmia, Low-set ears, Agenesis of corpus callosum, Wide nasal bridge |
ORPHA:93267 |
Orofaciodigital Syndrome Xv |
|
Anteverted nares, Hypertelorism, Agenesis of corpus callosum, Wide nasal bridge |
OMIM:617127 |
Isolated Dandy-Walker Malformation |
|
Frontal bossing, Cleft palate, Platybasia, Prominent occiput |
ORPHA:217 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Cataract, Bilateral microphthalmos |
OMIM:608763 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Macrocephaly, Hypothalamic hamartoma, Depressed nasal bridge, Anterior hypopituita... |
OMIM:241800 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Sensorineural hearing impairment, Small cerebral cortex, Microcephaly, Mixed hearing impairment, ... |
OMIM:604804 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Cerebral cortical atrophy, Deeply set eye, Holoprosencephaly, Microcephaly, Abnormality of the di... |
ORPHA:2570 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Bulbous nose, Abnormal pinna morphology, Macrocephaly, Hypoplasia of the corpus callosum, Optic a... |
OMIM:616975 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebral hypoplasia, Low-set ears, Microcephaly, Cerebellar hypoplasia, Aplasia/Hypoplasia of the... |
ORPHA:168486 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Macrocephaly, Hypertelorism, Umbilical hernia, Cryptorchidism, Agenesis of corpus ... |
OMIM:175700 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Ectopic posterior pituitary, Microphthalmia, Cryptorchidism |
OMIM:610125 |
Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Wide nose, Short nose, Central diabetes insipidus, Hyper... |
OMIM:125700 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Partial agenesis of the corpus callosum, Conductive hearing impairment, Cerebral atrophy, Agenesi... |
ORPHA:85179 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, L... |
ORPHA:990 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Thick corpus callosum, Sensorineural hearing impairment, Abnormality of the endocrine system, Dee... |
ORPHA:464288 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Large earlobe, Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Cupped ear, Opti... |
OMIM:619955 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia |
ORPHA:1473 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Microcephaly, Dysplastic corpus callosum |
OMIM:618276 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... |
OMIM:304100 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Hydrocephalus, Cavum septum pellucidum, Depressed nasal bridge, Polymicrogyria, Mi... |
OMIM:602501 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... |
ORPHA:861 |
Xq27.3Q28 Duplication Syndrome |
|
Bulbous nose, Deeply set eye, Decreased testicular size, Hypogonadism, Cryptorchidism |
ORPHA:261483 |
Microphthalmia, Syndromic 13 |
|
Coloboma, Microphthalmia |
OMIM:300915 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
14Q22Q23 Microdeletion Syndrome |
|
Hypertelorism, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Cupped ear, Anopht... |
ORPHA:264200 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Decreased circulating free T3, Abnormal circulating insulin concentration, Elevated circulating t... |
ORPHA:171706 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callo... |
ORPHA:255182 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Low-set ears, Hypertelorism, Alobar holoprosencephaly, Decreased testicular size, Macrotia, Crypt... |
OMIM:615433 |
Dystonia 30 |
|
Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot... |
OMIM:619291 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
6Q25 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Microcephaly, Low-set, posteriorly r... |
ORPHA:251056 |
Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Aganglionic megacolon, Biparietal narrowing, Abnormality of the hypothalamus-pitui... |
ORPHA:220497 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Death in infancy, Simplified gyral pattern, Agenes... |
OMIM:619301 |
Adenylosuccinate Lyase Deficiency |
|
Microcephaly, Short nose, Hypointensity of cerebral white matter on MRI, Anteverted nares, Low-se... |
ORPHA:46 |
X-Linked Intellectual Disability, Cilliers Type |
|
Deeply set eye, Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hyp... |
ORPHA:163971 |
Isolated Exencephaly |
|
Holoprosencephaly, Depressed nasal bridge, Maternal diabetes, Aplasia/Hypoplasia of the cerebellu... |
ORPHA:563612 |
Microphthalmia, Syndromic 3 |
|
Sensorineural hearing impairment, Cryptorchidism, Bilateral sensorineural hearing impairment, Hyp... |
OMIM:206900 |
Mmep Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:3434 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Bulbous nose, Deeply set eye, Protruding ear, Broad nasal tip, Depressed nasal bridge, Microcepha... |
ORPHA:480907 |
Acromelic Frontonasal Dysplasia |
|
Hypoplasia of the olfactory bulb, Hypertelorism, Cryptorchidism, Encephalocele, Broad nasal tip, ... |
ORPHA:1827 |
Congenital Laryngomalacia |
|
Cleft palate, Non-midline cleft lip |
ORPHA:2373 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Low-set ears, Remnants of the hyaloid vascular system, Hydrocephalus, Deeply set eye, Macrocephal... |
OMIM:614643 |
Joubert Syndrome 37 |
|
Low-set ears, Deeply set eye, Hypertelorism, Hypoplasia of the corpus callosum, Wide nose, Cerebe... |
OMIM:619185 |
Bresek Syndrome |
|
Low-set ears, Hydrocephalus, Protruding ear, Convex nasal ridge, Optic nerve hypoplasia, Microcep... |
ORPHA:85284 |
Bowen Syndrome Of Multiple Malformations |
|
Death in childhood, Agenesis of corpus callosum |
OMIM:211200 |
Holoprosencephaly 11 |
|
Hypotelorism, Holoprosencephaly, Microcephaly, Proptosis, Agenesis of corpus callosum |
OMIM:614226 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Cleft palate, Anophthalmia, Frontal bossing, Deep philtrum, Microph... |
OMIM:206920 |
Cerebrooculonasal Syndrome |
|
Low-set ears, Hydrocephalus, Conductive hearing impairment, Hypertelorism, Macrocephaly, Optic ne... |
OMIM:605627 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Hypoplasia... |
ORPHA:300573 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Sensorineural hearing impairment, Hyposmia, Hypogonadotropic hypogonadism, Agenesis of corpus cal... |
OMIM:147950 |
Hartsfield Syndrome |
|
Hypertelorism, Depressed nasal bridge, Low-set, posteriorly rotated ears, Microphthalmia, Encepha... |
ORPHA:2117 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... |
OMIM:226440 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum, Arrhinencephaly |
OMIM:300073 |
Oculocerebrocutaneous Syndrome |
|
Wide mouth, Calvarial skull defect, Facial cleft, Oral cleft |
ORPHA:1647 |
Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Macrocephaly, Broad nasal tip, Depressed nasal br... |
OMIM:222448 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Aganglionic megacolon, Biparietal narrowing, Retinal coloboma, Abnormality of the ... |
ORPHA:220493 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Cataract, Microphthalmia, Posterior synechiae o... |
OMIM:610256 |
Perlman Syndrome |
|
Low-set ears, Hyperinsulinemia, Abnormal pancreas morphology, Deeply set eye, Macrocephaly, Short... |
ORPHA:2849 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Diffuse cerebral atrophy, Secondary microcephaly, Small pituitary gland, Hypoplasia of the corpus... |
OMIM:617395 |
O'Donnell-Luria-Rodan Syndrome |
|
Macrocephaly, Deeply set eye, Abnormal cerebral white matter morphology, Cryptorchidism, Abnormal... |
OMIM:618512 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Hypertelorism, Microcephaly, Hearing impairment, Short columella, Low-set ears, Agenesis of corpu... |
OMIM:619989 |
14Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Depressed nasal bridge, Low-set, posteriorly rotated ears, Short nose, Hypertelorism |
ORPHA:261120 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Low-set ears, Deeply set eye, Hypertelorism, Supernumerary nipple, Hypotelorism, Holoprosencephal... |
OMIM:612530 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate |
OMIM:119540 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Low-set ears, Hydrocephalus, Agenesis of cerebellar vermis, Short nose, Cerebellar vermis hypopla... |
ORPHA:163961 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Deeply set eye, Hypertelorism, Cryptorchidism, Low hanging columella, Dandy-Walker malformation, ... |
OMIM:619148 |
Oculocerebrodental Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dysplastic corpus callosum, Foca... |
ORPHA:557003 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Large earlobe, Depressed nasal bridge, Microcephaly, Partial agenesis of the corpus callosum, Opt... |
OMIM:618346 |
Maternal Uniparental Disomy Of Chromosome X |
|
Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum, Primary gonadal insufficiency |
ORPHA:261519 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short nose, Macrotia, Progressive microcephaly, Hypertelorism, Dandy-Walk... |
ORPHA:438178 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Cerebral cortical atrophy, Deeply set eye, Hypoplasia of the corpus callosum |
OMIM:618859 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Partial agenesis of the corpus callosum |
OMIM:233810 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Frontal cortical atrophy, Orthostatic hypotension, Hypoplasia of the c... |
ORPHA:2822 |
16P13.11 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Holoprosencephaly, Depressed nasal bridge, Microc... |
ORPHA:261236 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ... |
OMIM:614833 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction ve... |
OMIM:218000 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Bulbous nose, Deeply set eye, Cerebral atrophy, Depressed nasal bridge, Macrotia, Anteverted nares |
OMIM:617268 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Anteverted nares, Hypertelorism, ... |
OMIM:616362 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Flared nostrils, Low-set ears, Deeply set eye, Decreased response to growth hormone stimulation t... |
ORPHA:280679 |
Adams-Oliver Syndrome 2 |
|
Low-set ears, Bulbous nose, Protruding ear, Macrocephaly, Cerebral atrophy, Depressed nasal bridg... |
OMIM:614219 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Hydrocephalus, Macrocephaly, Proptosis, Rieger anomaly, Abnorma... |
OMIM:109120 |
Gaba-Transaminase Deficiency |
|
Cerebellar hypoplasia, Death in childhood, Agenesis of corpus callosum |
OMIM:613163 |
Glycine Encephalopathy |
|
Agenesis of corpus callosum, Death in infancy |
OMIM:605899 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Abnormal pinna morphology, Holoprosencephaly, Microcephaly, Cryptorchidism, Agenesis of corpus ca... |
OMIM:610680 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Hypertelorism, Macrocephaly, Agenesis of corpus callosum |
ORPHA:459074 |
Craniosynostosis 2 |
|
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis,... |
OMIM:604757 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bulbous nose, Hydrocephalus, Deeply set eye, Hypertelorism, Hypotelorism, Protruding ear, Microce... |
OMIM:612940 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Low-set ears, Abnormal pinna morphology, Deeply set eye, Depressed nasal bridge, Microcephaly, Hy... |
OMIM:613457 |
Trisomy 13 |
|
Calvarial skull defect, High, narrow palate, Cleft palate, Abnormality of the dentition, Long phi... |
ORPHA:3378 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Cerebellar hypoplasia, Neonatal death, Agyria, Lissencephaly, Death in infancy, Age... |
OMIM:616342 |
Malan Overgrowth Syndrome |
|
Deeply set eye, Macrocephaly, Depressed nasal bridge, Hypoplasia of the corpus callosum, Lateral ... |
ORPHA:420179 |
Developmental And Epileptic Encephalopathy 73 |
|
Sensorineural hearing impairment, Microcephaly, Hypoplasia of the corpus callosum, Narrow nasal b... |
OMIM:618379 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Hypergastrinemia |
OMIM:252650 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Low-set ears, Bulbous nose, Deeply set eye, Cerebral atrophy, Low hanging columella, Hypoplasia o... |
OMIM:618494 |
Coach Syndrome 2 |
|
Hydrocephalus, Coloboma, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Chorioretinal... |
OMIM:619111 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Low-set ears, Hydrocephalus, Deeply set eye, Hypertelorism, Supernumerary nipple, Macrocephaly, D... |
ORPHA:1812 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Protruding ear |
ORPHA:2508 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Low-set ears, Cerebral atrophy, Dilated third ventricle, Microcephaly, Corpu... |
OMIM:619244 |
Cornelia De Lange Syndrome 5 |
|
Deeply set eye, Hypertelorism, Broad nasal tip, Depressed nasal bridge, Microcephaly, Hearing imp... |
OMIM:300882 |
Acrofacial Dysostosis, Catania Type |
|
Tooth agenesis, Abnormality of the dentition, Carious teeth, Facial cleft, Abnormal palate morpho... |
ORPHA:1786 |
Lissencephaly 6 With Microcephaly |
|
Bulbous nose, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis o... |
OMIM:616212 |
Frontonasal Dysplasia 2 |
|
Calvarial skull defect, Anterior plagiocephaly, Parietal foramina, Craniosynostosis, Widely space... |
OMIM:613451 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Deeply set eye, Microcephaly, Prominent nose, Macrotia, Anteverted ears |
OMIM:615541 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Wide mouth, Brachycephaly, Thick lower lip vermilion |
OMIM:309545 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Hypotelorism, Alobar holoprosencephaly, Microphthalmia, ... |
OMIM:157170 |
Congenital Disorder Of Deglycosylation 2 |
|
Macrocephaly, Hypothalamic hamartoma, Retinal coloboma, Microtia, Cleft earlobe, Polymicrogyria, ... |
OMIM:619775 |
5Q14.3 Microdeletion Syndrome |
|
Deeply set eye, Frontal cortical atrophy, Optic nerve hypoplasia, Hypoplasia of the corpus callos... |
ORPHA:228384 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, Optic nerve dysplasia, Typ... |
OMIM:615287 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Microtia, Depressed nasal ... |
ORPHA:1914 |
Lissencephaly, X-Linked, 2 |
|
Low-set ears, Lissencephaly, Decreased testicular size, Pachygyria, Prominent nasal bridge, Agene... |
OMIM:300215 |
2Q24 Microdeletion Syndrome |
|
Abnormality iris morphology, Cataract, Microphthalmia |
ORPHA:1617 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Microcephaly, Short nose, Proptosis, Anteverted nares, Low-set ears, Poste... |
ORPHA:1832 |
Peho-Like Syndrome |
|
Polymicrogyria, Hypoplasia of the corpus callosum, Optic atrophy, Short nose, Lissencephaly, Prog... |
OMIM:617507 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Depressed nasal bridge, Abnormal cerebral white matter morphology, Short nose, Abno... |
OMIM:613443 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Low-set ears, Depressed nasal bridge, Microcephaly, Hypoplasia of the corpus callosum, Lissenceph... |
OMIM:618142 |
Foxg1 Syndrome |
|
Hypoplasia of the corpus callosum, Optic disc hypoplasia, Progressive microcephaly, Pachygyria, A... |
ORPHA:561854 |
Chromosome 5P13 Duplication Syndrome |
|
Low-set ears, Bulbous nose, Hypotelorism, Macrocephaly, Proptosis, Hypertelorism, Agenesis of cor... |
OMIM:613174 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Protruding ear, Deeply set eye, Macrocephaly, Microcephaly, Decreased testicular size, Cryptorchi... |
ORPHA:85279 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Precocious puberty, Microcephaly, Abnormal septum pellucidum morpholo... |
ORPHA:280195 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter, Agenesis of corpus callosum |
OMIM:225040 |
Pontocerebellar Hypoplasia, Type 10 |
|
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebral whi... |
OMIM:615803 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Bulbous nose, Noncommunicating hydrocephalus, Macrotia, Anteverted nares, Low-set ears, Posterior... |
OMIM:619320 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Microcephaly, Short nose, Deeply set eye |
ORPHA:833 |
Temtamy Syndrome |
|
Low-set ears, Macrocephaly, Convex nasal ridge, Iris coloboma, Microphthalmia, Hypertelorism, Cho... |
ORPHA:1777 |
1Q21.1 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Bulbous nose, Hydrocephalus, Deeply set eye, Microcephaly, Iris... |
ORPHA:250989 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Thick corpus callosum, Low-set ears, Sensorineural hearing impairment, Deeply set eye, Hypotelori... |
OMIM:618672 |
Intellectual Disability-Strabismus Syndrome |
|
Low-set ears, Hypertelorism, Decreased response to growth hormone stimulation test, Cryptorchidis... |
ORPHA:363528 |
Al-Raqad Syndrome |
|
Microcephaly, Short nose, Deeply set eye, Low-set ears |
OMIM:616459 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Low-set ears, Hydrocephalus, Hypertelorism, Cerebral atrophy, Microtia, Depressed nasal bridge, A... |
ORPHA:171839 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Caudate atrophy, Agenesis of corpus callosum, Adrenal insufficiency |
OMIM:618238 |
Frontorhiny |
|
Congenital conductive hearing impairment, Basal encephalocele, Hypertelorism, Encephalocele, Apla... |
ORPHA:391474 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Intestinal malrotation, Prominent occiput, Facial cleft, Microphthalmi... |
ORPHA:99776 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia involving the nose, Microtia, Optic atrophy, Iris coloboma, Sep... |
ORPHA:3301 |
Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Hypertelorism, Deeply set eye, Hypogonadism |
OMIM:615984 |
Craniosynostosis 4 |
|
Macrocephaly, Depressed nasal bridge, Optic nerve hypoplasia, Proptosis, Ectopic posterior pituit... |
OMIM:600775 |
Wilson-Turner Syndrome |
|
Deeply set eye, Microtia, Broad nasal tip, Hypogonadotropic hypogonadism, Cryptorchidism |
ORPHA:3459 |
Desanto-Shinawi Syndrome |
|
Sensorineural hearing impairment, Bulbous nose, Deeply set eye, Abnormal pinna morphology, Depres... |
OMIM:616708 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Microcephaly, Deeply set eye |
OMIM:300471 |
Radio-Tartaglia Syndrome |
|
Large earlobe, Low-set ears, Bulbous nose, Prominent nasal tip, Precocious puberty, Deeply set ey... |
OMIM:619312 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Spina bifida occulta, Agenesis of c... |
OMIM:618736 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Low-set ears, Depressed nasal bridge, Short nose, Anteverted nares, Hypertelorism |
OMIM:614069 |
Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Cerebral cortical atrophy, Deeply set eye, Decreased motor nerve cond... |
OMIM:615663 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Bulbous nose, Deeply set eye, Depressed nasal bridge, Optic nerve hypoplasia, Short nose, Primary... |
OMIM:618828 |
Nizon-Isidor Syndrome |
|
Bulbous nose, Deeply set eye, Depressed nasal bridge, Hypoplasia of the corpus callosum, Iris col... |
OMIM:618872 |
Christianson Syndrome |
|
Cerebral cortical atrophy, Deeply set eye, Microcephaly, Aplasia/Hypoplasia of the cerebellum, De... |
ORPHA:85278 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Tooth agenesis, Cleft palate, Microphthalmia, Midface retrusion |
ORPHA:1135 |
Sulfite Oxidase Deficiency, Isolated |
|
Deeply set eye, Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Delayed eruption of teeth,... |
OMIM:272300 |
Craniosynostosis 6 |
|
Sensorineural hearing impairment, Microcephaly, Spina bifida occulta, Hypertelorism, Agenesis of ... |
OMIM:616602 |
X-Linked Intellectual Disability, Schimke Type |
|
Cerebral cortical atrophy, Deeply set eye, Narrow nasal bridge, Hearing impairment, Secondary mic... |
ORPHA:85285 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Macrocephaly, Short nose, Deeply set eye |
ORPHA:2429 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Low-set ears, Agenesis of corpus callosum |
OMIM:610498 |
Septo-Optic Dysplasia Spectrum |
|
Sensorineural hearing impairment, Absent septum pellucidum, Optic nerve hypoplasia, Abnormality o... |
ORPHA:3157 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Depressed nasal ridge, Microtia, Bifid nasal tip, Short nose, Agenesi... |
OMIM:616854 |
Pituitary Carcinoma |
|
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... |
ORPHA:300385 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Protruding ear, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis... |
OMIM:616819 |
Borjeson-Forssman-Lehmann Syndrome |
|
Deeply set eye, Microcephaly, Delayed puberty, Macrotia, Cryptorchidism |
OMIM:301900 |
Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Deeply set eye, Hypertelorism, Wide nose, Hearing impairment |
ORPHA:251076 |
Temtamy Syndrome |
|
Low-set ears, Convex nasal ridge, Iris coloboma, Hypertelorism, Agenesis of corpus callosum, Lop ... |
OMIM:218340 |
Pseudotrisomy 13 Syndrome |
|
Low-set ears, Hydrocephalus, Hypotelorism, Cryptorchidism, Holoprosencephaly, Microcephaly, Cereb... |
OMIM:264480 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:613038 |
Pituitary Stalk Interruption Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Adrenal hypoplasia, Ectopic poste... |
ORPHA:95496 |
Microgastria-Limb Reduction Defects Association |
|
Cryptorchidism, Fusion of the left and right thalami, Arrhinencephaly, Polymicrogyria, Anophthalm... |
OMIM:156810 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the corpus callosum, Polymicrogyria, Optic disc pallor, Proptosis, Simplified gyral... |
ORPHA:468631 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Protruding ear, Deeply set eye, Persistence of primary teeth, M... |
OMIM:618342 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Sensorineural hearing impairment, Bulbous nose, Dysplastic corpus callosum... |
ORPHA:544488 |
Ritscher-Schinzel Syndrome 4 |
|
Deeply set eye, Hypertelorism, Hypotelorism, Wide nasal bridge, Cerebellar hypoplasia, Proptosis,... |
OMIM:619435 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Microcephaly, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Primary microcepha... |
ORPHA:466688 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Large earlobe, Deeply set eye, Thickened ears, Depressed nasal bridge, Death in childhood, Death ... |
OMIM:616809 |
Charge Syndrome |
|
Overfolded helix, Depressed nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia of the ce... |
ORPHA:138 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Low-set ears, Cerebral cortical atrophy, Deeply set eye, Thin corpus callosum, Macrocephaly, Depr... |
OMIM:619720 |
Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Absent sept... |
OMIM:609053 |
Amish Lethal Microcephaly |
|
Microcephaly, Optic atrophy, Cerebellar vermis hypoplasia, Lissencephaly, Death in infancy, Spina... |
ORPHA:99742 |
Marden-Walker Syndrome |
|
Low-set ears, Hypertelorism, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... |
OMIM:248700 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Protruding ear, Microtia, Overfolded helix, Cupped ear, Hypoplasia of t... |
OMIM:618619 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Deeply set eye, Depressed nasal bridge, Cerebellar hypoplasia, Hypoplasia of the co... |
ORPHA:284169 |
Cat-Eye Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:195 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Deeply set eye, Convex nasal ridge, Microcephaly, Death in childhood, Microphthalmia, Hearing imp... |
OMIM:610756 |
Chromosome 13Q14 Deletion Syndrome |
|
Low-set ears, Bulbous nose, Hypotelorism, Supernumerary nipple, Holoprosencephaly, Absent septum ... |
OMIM:613884 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Low-set ears, Hydrocephalus, Relative macrocephaly, Depressed nasal bridge, Mild hearing impairme... |
ORPHA:459061 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Microcephaly, Deeply set eye, Hypoplasia of the corpus callosum, Macrotia |
OMIM:300934 |
4Q21 Microdeletion Syndrome |
|
Low-set ears, Depressed nasal bridge, Cerebellar hypoplasia, Hearing impairment, Hypertelorism, A... |
ORPHA:238750 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Depressed nasal bridge, Microcephaly, Hypoplasia of the corpus callosum, Short nose... |
OMIM:614105 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Deeply set eye, Broad nasal tip, Depressed nasal bridge, Microcephaly, Anteverted nares, Pseudohy... |
OMIM:617157 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly, Hypertelorism |
OMIM:245349 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short nose, Low-set, posteriorly rotated ears |
ORPHA:2015 |
Myopia 27, Autosomal Dominant |
|
Increased axial length of the globe |
OMIM:618827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hydrocephalus, Cataract, Microphthalmia |
OMIM:615181 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus pallidus morphology, Hypertelori... |
OMIM:618603 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Aplasi... |
ORPHA:137902 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Microcephaly, Short nose, Convex nasal ridge, Encephalocele |
OMIM:200130 |
Gand Syndrome |
|
Broad nasal tip, Hypertelorism, Deeply set eye, Wide nasal bridge |
OMIM:615074 |
Hartsfield Syndrome |
|
Low-set ears, Hypotelorism, Hypertelorism, Microcephaly, Wide nose, Posteriorly rotated ears, Gon... |
OMIM:615465 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
Freeman-Sheldon Syndrome |
|
Deeply set eye, Hypertelorism, Depressed nasal ridge, Hearing impairment, Cryptorchidism, Underde... |
ORPHA:2053 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Protruding ear, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Short nose, Death... |
ORPHA:1495 |
Emanuel Syndrome |
|
Low-set ears, Hydrocephalus, Deeply set eye, Severe hearing impairment, Cerebral atrophy, Low han... |
ORPHA:96170 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Bulbous nose, Depressed nasal bridge, Hypoplasia of the corpus callosum, Polymicrogyria, Short no... |
OMIM:618454 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Low-set ears, Deeply set eye, Convex nasal ridge, Decreased response to growth hormone stimulatio... |
OMIM:241410 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Agenesis of corpus callosum,... |
OMIM:225790 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Bulbous nose, Deeply set eye, Decreased serum testosterone concentration, Cryptorchidism, Decreas... |
OMIM:300869 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Anophthalmia, Microcornea, Cataract, Microphthalmia, Sclerocornea |
OMIM:615877 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism |
OMIM:301033 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Bulbous nose, Deeply set eye, Anteverted nares, Hypertelorism, Wide nasal bridge |
OMIM:615979 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Macrocephaly, Deeply set eye, Frontal cortical atrophy |
OMIM:300699 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Bulbous nose, Deeply set eye, Microcephaly, Macrotia, Hypertelorism, Wide nasal bridge |
ORPHA:261304 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Low-set ears, Deeply set eye, Decreased response to growth hormone stimulation test, Hypergonadot... |
OMIM:300845 |
17P13.3 Microduplication Syndrome |
|
Hypertelorism, Hypoplasia of the corpus callosum, Wide nose, Short nose, Low-set ears |
ORPHA:217385 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Deeply set eye, Microcephaly, Death in childhood, Cerebellar hypoplasia, Polymicrogyria, Low-set,... |
OMIM:610758 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hydrocephalus, Hypoplasia of the corpus callosum, Polymicrogyria, Optic atrophy, Agyria, Micropht... |
OMIM:236670 |
Neurooculocardiogenitourinary Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Hypertelorism, Coloboma, Microphthalmia, Bilatera... |
OMIM:618652 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Deeply set eye, Hypoplasia of the corpus callosum... |
ORPHA:423479 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Low-set ears, Conductive hearing impairment, Cryptorchidism, Depressed nasal bridge, Microcephaly... |
OMIM:616910 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Deeply set eye, Periventricular white matter hyperintensities, Postnatal macrocephaly, Microtia |
OMIM:618158 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Sensorineural hearing impairment, Deeply set eye, Cerebral atrophy, Microcephaly, Hypoplasia of t... |
ORPHA:464282 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Low-set ears, Bulbous nose, Overfolded helix, Small cerebral cortex, Periventricular leukomalacia... |
OMIM:617360 |
Lissencephaly 8 |
|
Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Optic atr... |
OMIM:617255 |
Thomas Syndrome |
|
Dolichocephaly, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Cerebral cortical atrophy, Microcephaly, Macrotia, Partial agenesis of the corpus callosum, Optic... |
OMIM:234050 |
Growth Hormone Deficiency, Isolated Partial |
|
Decreased response to growth hormone stimulation test, Small pituitary gland |
OMIM:615925 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Microtia, Anotia, Bifid nose, Atresia of the external auditory canal, Hearing impa... |
ORPHA:268249 |
Rhombencephalosynapsis |
|
Hydrocephalus, Macrocephaly, Fusion of the left and right thalami, Low-set, posteriorly rotated e... |
ORPHA:59315 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Subcortical white matter calcifications, Male hypogonadism, Cryptorchidism, Delayed... |
ORPHA:90322 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Hyposmia, Abnormality of the... |
ORPHA:68 |
Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
1Q41Q42 Microdeletion Syndrome |
|
Deeply set eye, Hypotelorism, Holoprosencephaly, Hypergonadotropic hypogonadism, Broad nasal tip,... |
ORPHA:250999 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Deeply set eye, Hypotelorism, Overfolded helix, Hearing impairment, Low-set ears |
ORPHA:251046 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Macrocephaly, Cupped ear, Optic disc... |
ORPHA:52055 |
Rhyns Syndrome |
|
Hearing impairment, Hypopituitarism, Deeply set eye |
ORPHA:140976 |
Kapur-Toriello Syndrome |
|
Low-set ears, Bulbous nose, Dysplastic corpus callosum, Retinal coloboma, Polymicrogyria, Atresia... |
ORPHA:2328 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Cerebral cortical atrophy, Microcephaly, Cerebellar hypoplasia, Hypopl... |
OMIM:619072 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Microphthalmia |
ORPHA:363741 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Bulbous nose, Protruding ear, Depressed nasal bridge, Microcephaly... |
ORPHA:261144 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Low-set ears, Abnormal pinna morphology, Long nose, Depressed nasal bridge, Microcephaly, Hyperte... |
OMIM:612337 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, Precocious puberty, Deeply set eye, Depressed nasal bridge, Microc... |
ORPHA:819 |
Fumarase Deficiency |
|
Relative macrocephaly, Cerebral atrophy, Depressed nasal bridge, Open operculum, Microcephaly, Po... |
OMIM:606812 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Short nose, Macrocephaly, Hypertelorism |
OMIM:613670 |
Vici Syndrome |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Hypotelorism, Depressed nasal tip, H... |
ORPHA:1493 |
Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Hypogonadotropic hypogonadism, Agenesis of ... |
ORPHA:238722 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Sensorineural hearing impairment, Low-set ears, Deeply set eye, Hypertelorism, Cryptorchidism, Ma... |
OMIM:617796 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Low-set ears, Bulbous nose, Protruding ear, Overfolded helix, Hypoplasia of the corpus callosum, ... |
ORPHA:481152 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619466 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Hypoplasia of the corpus callosum, Abnormal location of ears, Cryptorchidism, Agen... |
OMIM:218350 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Sensorineural hearing impairment, Low-set ears, Deeply set eye, Microcephaly, Hypoplasia of the c... |
OMIM:615966 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Midface retrusion |
ORPHA:35099 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Convex nasal ridg... |
ORPHA:87 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Macrocephaly, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract h... |
OMIM:307000 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Agenesis of corpus callosum |
OMIM:614120 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Microphthalmia, Cryptorchidism |
ORPHA:2470 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microcephaly, Hypoplasia of the corpus callosum, Optic disc pallor, Short nose, Hypertelorism, Po... |
OMIM:300887 |
Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes |
ORPHA:2512 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Hypotelorism, Cerebellar hypoplasia, Optic atrophy, Cerebral white matter atrophy, Short nose, De... |
OMIM:615042 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Degeneration of the lateral cortico... |
OMIM:604360 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Sensorineural hearing impairment, Low-set ears, Macrocephaly, Cupped ear, Mixed hearing impairmen... |
OMIM:300472 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Cryptorchidism, Low-set, posteriorly rotated ears, Hearing impairment, Short nose,... |
ORPHA:2701 |
Meckel Syndrome |
|
Hydrocephalus, Hypertelorism, Cryptorchidism, Depressed nasal ridge, Pancreatic fibrosis, Microce... |
ORPHA:564 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
3Mc Syndrome 3 |
|
Cleft upper lip, Facial cleft, Cleft palate |
OMIM:248340 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Protruding ear, Abnormally large globe, Microcephaly, Optic atrophy, Cryptorchidism, Agenesis of ... |
OMIM:300004 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Kleefstra Syndrome 2 |
|
Plagiocephaly, Midface retrusion, Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus, Deeply set eye, Cerebral atrophy, Long nose, Depressed nasal bridge, Cerebellar hy... |
OMIM:618590 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Low-set, posteriorly rotated ears, Optic atrophy, Proptosi... |
OMIM:123790 |
Desmosterolosis |
|
Large earlobe, Low-set ears, Hydrocephalus, Macrocephaly, Absent septum pellucidum, Macrogyria, D... |
ORPHA:35107 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Basal ganglia cysts, Anteverted nares, Low-set ears, Posteriorly rotated ears, Agenesis of corpus... |
OMIM:613623 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Low-set ears, Prominent nasal tip, Cerebral atrophy, Cavum septum pellucidum, Dil... |
ORPHA:464738 |
Genitopatellar Syndrome |
|
Low-set ears, Hypertelorism, Microcephaly, Delayed eruption of teeth, Hearing impairment, Wide no... |
ORPHA:85201 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Coloboma, Microphthalmia |
OMIM:617306 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Low-set ears, Deeply set eye, Hypertelorism, Macrocephaly, Depressed nasal bridge, Anteverted nar... |
OMIM:618316 |
Coffin-Siris Syndrome 11 |
|
Uplifted earlobe, Bulbous nose, Depressed nasal bridge, Hypertelorism, Agenesis of corpus callosum |
OMIM:618779 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Hydrocephalus, Depressed nasal bridge, Periventricular leukomalacia, Microcephaly, Optic atrophy,... |
OMIM:619833 |
20Q11.2 Microdeletion Syndrome |
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Hearing impairment, Hypertelorism, Deeply set eye |
ORPHA:444051 |
Developmental And Epileptic Encephalopathy 75 |
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Cerebral cortical atrophy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Optic atr... |
OMIM:618437 |
Chromosome 20Q11-Q12 Deletion Syndrome |
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Hearing impairment, Hypertelorism, Deeply set eye |
OMIM:614257 |
1Q44 Microdeletion Syndrome |
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Hydrocephalus, Microcephaly, Optic disc hypoplasia, Hypertelorism, Biparietal narrowing, Agenesis... |
ORPHA:238769 |
Braddock-Carey Syndrome 1 |
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Microcephaly, Macrotia, Anteverted nares, Posteriorly rotated ears, Agenesis of corpus callosum, ... |
OMIM:619980 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
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Deeply set eye, Cholesteatoma |
OMIM:614113 |
Clark-Baraitser Syndrome |
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Large earlobe, Low-set ears, Low hanging columella, Depressed nasal bridge, Microcephaly, Short n... |
OMIM:617752 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
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Decreased response to growth hormone stimulation test, Hypoplasia of the corpus callosum, Ectopic... |
ORPHA:67045 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Thin corpus callosum, Microcephaly, Macrotia, Wide nose, Microphthalmia, Anteverted nares |
OMIM:619694 |
Mosaic Variegated Aneuploidy Syndrome 1 |