Ataxia-Oculomotor Apraxia Type 1 |
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Gait disturbance, Medial flaring of the eyebrow, Ataxia |
ORPHA:1168 |
Optic Nerve Hypoplasia, Bilateral |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... |
OMIM:165550 |
Phosphoserine Phosphatase Deficiency |
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Hypertonia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
2p15-16.1 microdeletion syndrome |
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Optic disc hypoplasia, Telecanthus, Downslanted palpebral fissures, Ptosis |
DECIPHER:70 |
Coloboma, Ocular, Autosomal Dominant |
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Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Optic disc coloboma, Remnants of t... |
OMIM:120200 |
Microphthalmia, Isolated 8 |
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Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Entropion |
OMIM:615113 |
Joubert Syndrome 40 |
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Optic nerve hypoplasia, Almond-shaped palpebral fissure |
OMIM:619582 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
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Hypotonia, Postnatal growth retardation, Intrauterine growth retardation, Generalized hypotonia |
OMIM:233810 |
Tatton-Brown-Rahman Syndrome |
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Narrow palpebral fissure, Optic nerve hypoplasia, Blepharophimosis |
OMIM:615879 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
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Dysmetria, Ataxia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder |
OMIM:614306 |
Polyendocrine-Polyneuropathy Syndrome |
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Dystonia, Ataxia, Postnatal growth retardation, Short stature |
OMIM:616113 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
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Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity |
OMIM:618160 |
Lissencephaly, X-Linked, 1 |
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Ataxia, Postnatal growth retardation, Muscular hypotonia of the trunk, Spasticity |
OMIM:300067 |
Isolated Optic Nerve Hypoplasia/Aplasia |
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Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... |
ORPHA:137902 |
14Q22Q23 Microdeletion Syndrome |
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Ptosis, Anophthalmia, Epicanthus, Downslanted palpebral fissures, Optic nerve aplasia |
ORPHA:264200 |
Chromosome 4Q21 Deletion Syndrome |
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Hypotonia, Postnatal growth retardation, Generalized hypotonia |
OMIM:613509 |
Nabais Sa-De Vries Syndrome, Type 1 |
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Highly arched eyebrow, Narrow palpebral fissure, Optic nerve hypoplasia, Telecanthus, Downslanted... |
OMIM:618828 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
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Severe intrauterine growth retardation, Intrauterine growth retardation, Short stature, Small for... |
ORPHA:231144 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Intrauterine growth retardation, Failure to thrive, Postnatal growth retardation, Spasticity, Gen... |
OMIM:617093 |
Chromosome 19P13.13 Deletion Syndrome |
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Optic atrophy, Optic nerve hypoplasia, Downslanted palpebral fissures |
OMIM:613638 |
5Q14.3 Microdeletion Syndrome |
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Upslanted palpebral fissure, Optic nerve hypoplasia, Thick eyebrow |
ORPHA:228384 |
Microcephaly 20, Primary, Autosomal Recessive |
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Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
Gluteal Muscles, Absence Of |
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Optic nerve hypoplasia |
OMIM:231970 |
Hypocalcemia, Autosomal Dominant 2 |
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Postnatal growth retardation, Paresthesia |
OMIM:615361 |
Cardiofaciocutaneous Syndrome 4 |
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Ptosis, Optic nerve hypoplasia, Absent eyebrow, Telecanthus, Epicanthus |
OMIM:615280 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Optic nerve hypoplasia, Downslanted palpebral fissures, Ptosis |
OMIM:618736 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
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Optic atrophy, Peripheral axonal neuropathy, Upslanted palpebral fissure, Optic nerve hypoplasia,... |
ORPHA:496790 |
Optic Atrophy-Intellectual Disability Syndrome |
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Optic atrophy, Upslanted palpebral fissure, Optic nerve hypoplasia, Optic disc hypoplasia, Epican... |
ORPHA:401777 |
Mitochondrial Myopathy With Lactic Acidosis |
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Dystonia, Growth delay, Dysmetria, Postnatal growth retardation, Spasticity, Generalized hypotoni... |
OMIM:251950 |
Spastic Paraplegia 54, Autosomal Recessive |
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Optic nerve hypoplasia, Telecanthus |
OMIM:615033 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Eyelid coloboma, Telecanthus, Optic nerve hypoplasia, Bilateral microphthalmos |
OMIM:607597 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
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Optic nerve hypoplasia, Downslanted palpebral fissures, Aplasia/Hypoplasia of the optic nerve |
ORPHA:137634 |
X-Linked Intellectual Disability, Najm Type |
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Optic atrophy, Optic nerve hypoplasia, Gait disturbance, Chorioretinal coloboma |
ORPHA:163937 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Attention deficit hyperactivity disorder, Inability to walk, Optic nerve hypoplasia |
OMIM:617864 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
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Intrauterine growth retardation, Postnatal growth retardation, Hypotonia, Obesity, Neonatal hypot... |
ORPHA:254525 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
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Narrow palpebral fissure, Upslanted palpebral fissure, Optic nerve hypoplasia, Epicanthus, Long p... |
ORPHA:363686 |
Chromosome 2P16.1-P15 Deletion Syndrome |
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Ptosis, Optic nerve hypoplasia, Telecanthus, Downslanted palpebral fissures, Epicanthus, Short pa... |
OMIM:612513 |
Bornholm Eye Disease |
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Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Craniotelencephalic Dysplasia |
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Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
2P15P16.1 Microdeletion Syndrome |
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Optic atrophy, Gait disturbance, Ptosis, Optic nerve hypoplasia, Telecanthus, Downslanted palpebr... |
ORPHA:261349 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
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Optic nerve hypoplasia |
ORPHA:65288 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Optic nerve hypoplasia |
ORPHA:250972 |
Septooptic Dysplasia |
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Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Retinal detachment, Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
Trichothiodystrophy 5, Nonphotosensitive |
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Retinal dystrophy, Optic nerve hypoplasia, Broad-based gait |
OMIM:300953 |
Charcot-Marie-Tooth Disease Type 1F |
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Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Optic nerve hypoplas... |
ORPHA:101085 |
Bresek Syndrome |
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Neonatal death, Aganglionic megacolon, Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Cerebral Visual Impairment |
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Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Optic nerve hypoplasia, Increased c... |
ORPHA:447788 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Dystonia, Torticollis, Bilateral ptosis, Optic nerve hypoplasia, Epicanthus, Downslanted palpebra... |
ORPHA:300570 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Short stature, Chorea, Exaggerated startle response, Postnatal growth retardation, Prog... |
ORPHA:309246 |
Aniridia 1 |
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Hypoplasia of the fovea, Hypoplasia of the iris, Ptosis, Aniridia, Bilateral ptosis, Optic nerve ... |
OMIM:106210 |
19P13.13 Microdeletion Syndrome |
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Optic atrophy, Optic nerve hypoplasia, Long eyelashes, Epicanthus, Downslanted palpebral fissures... |
ORPHA:357001 |
Squalene Synthase Deficiency |
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Optic nerve hypoplasia, Epicanthus |
OMIM:618156 |
Craniotelencephalic Dysplasia |
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Optic atrophy, Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
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Optic nerve hypoplasia |
OMIM:618890 |
Proboscis Lateralis |
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Abnormality of the ocular adnexa, Abnormality of bony orbit of skull, Microphthalmia, Chorioretin... |
ORPHA:141099 |
Myasthenic Syndrome, Congenital, 22 |
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Waddling gait, Ptosis |
OMIM:616224 |
Phace Association |
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Optic atrophy, Microphthalmia, Horner syndrome, Optic nerve hypoplasia, Increased retinal vascula... |
OMIM:606519 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
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Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia, Epicanthus, Downslanted palpebral fi... |
OMIM:300749 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Optic atrophy |
ORPHA:370959 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Optic nerve hypoplasia, Telecanthus, Downslanted palpebral fissures |
OMIM:301056 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Hypotonia, Postnatal growth retardation, Small for gestational age, Large for gestational age |
ORPHA:254534 |
Fg Syndrome Type 1 |
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Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Downslanted palpebral fissures,... |
ORPHA:93932 |
16Q24.3 Microdeletion Syndrome |
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Highly arched eyebrow, Optic nerve hypoplasia, Upslanted palpebral fissure |
ORPHA:261250 |
Microphthalmia, Syndromic 5 |
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Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia |
OMIM:610125 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Dermatochalasis, Lacrimal duct stenosis, Optic nerve hypoplasia, Ataxia, Palpebral edema |
ORPHA:221139 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Keratoconjunctivitis sicca, Broad eyebrow, Optic nerve hypoplasia, Long eyelashes, Sparse eyebrow... |
ORPHA:495875 |
Fanconi Anemia, Complementation Group I |
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Optic nerve hypoplasia, Microphthalmia |
OMIM:609053 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Highly arched eyebrow, Ptosis, Upslanted palpebral fissure, Lacrimal duct stenosis, Sparse latera... |
OMIM:617506 |
Hypotonia-Cystinuria Syndrome |
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Failure to thrive, Hypotonia, Growth delay |
ORPHA:163690 |
Septo-Optic Dysplasia Spectrum |
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Optic nerve hypoplasia, Septo-optic dysplasia |
ORPHA:3157 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hyperactivity, Optic nerve hypoplasia, Upper eyelid entropion |
ORPHA:457284 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Almond-shaped palpebral fissure, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, Abnorm... |
ORPHA:508498 |
Phace Syndrome |
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Lens coloboma, Abnormality of the orbital region, Microphthalmia, Retinal vascular malformation, ... |
ORPHA:42775 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Abnormality of the orbital region, Optic disc pallor, Upslanted palpebral fissure, Optic nerve hy... |
ORPHA:468631 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Abnormality of the optic nerve, Ptosis, Optic nerve hypoplasia, Long palpebral fissure, Inability... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Abnormality of the optic nerve, Ptosis, Optic nerve hypoplasia, Long palpebral fissure, Inability... |
ORPHA:352665 |
Microphthalmia, Syndromic 3 |
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Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:206900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Remnants of the hy... |
OMIM:614643 |
Stromme Syndrome |
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Optic nerve hypoplasia, Retinal vascular tortuosity, Microphthalmia, Stillbirth |
OMIM:243605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Optic atrophy, Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Ret... |
OMIM:236670 |
Brachytelephalangic Chondrodysplasia Punctata |
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Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
2P21 Microdeletion Syndrome |
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Failure to thrive, Hypotonia, Growth delay |
ORPHA:163693 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Retinal dystrophy, Optic nerve hypoplasia, Hypoplasia of eyelid, Optic atrophy |
OMIM:619321 |
Pancreatic And Cerebellar Agenesis |
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Optic nerve hypoplasia |
OMIM:609069 |
Hydranencephaly |
|
Optic nerve hypoplasia, Chorioretinal atrophy, Lethargy |
ORPHA:2177 |
Craniosynostosis 4 |
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Optic nerve hypoplasia |
OMIM:600775 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Optic nerve hypoplasia, Downslanted palpebral fissures, Optic disc coloboma, Ptosis |
ORPHA:536471 |
Rhombencephalosynapsis |
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Ataxia, Aganglionic megacolon, Septo-optic dysplasia |
ORPHA:59315 |
Tetraamelia-Multiple Malformations Syndrome |
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Optic atrophy, Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Holoprosencephaly 13, X-Linked |
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Optic nerve hypoplasia, Septo-optic dysplasia |
OMIM:301043 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Optic atrophy, Optic nerve hypoplasia, Epicanthus, Downslanted palpebral fissures, Sparse eyebrow... |
ORPHA:500150 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Optic nerve hypoplasia, Lethargy |
ORPHA:226307 |
Holoprosencephaly 9 |
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Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:610829 |
8Q24.3 Microdeletion Syndrome |
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Highly arched eyebrow, Retinal coloboma, Upslanted palpebral fissure, Optic nerve hypoplasia, Lon... |
ORPHA:508488 |
Pituitary Stalk Interruption Syndrome |
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Septo-optic dysplasia |
ORPHA:95496 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Optic nerve hypoplasia, Septo-optic dysplasia |
ORPHA:95494 |