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Gene: Casp3 MGI:107739

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
caspase 3
Synonyms:
CPP32,  AC-3,  CC3,  Apopain,  Caspase-3,  mldy,  Yama,  A830040C14Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Casp3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Casp3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hearing impairment OMIM:274205
Syngnathia
Cleft palate OMIM:119550
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract, Hearing impairment OMIM:120040
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate ORPHA:217
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Parietal Foramina 1
Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Parietal Foramina 3
Encephalocele OMIM:609566
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Usher Syndrome Type 3
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Vestibular ... ORPHA:231183
Usher Syndrome Type 1
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atr... ORPHA:231169
Cocaine Embryofetopathy
Encephalocele, Intestinal atresia ORPHA:1911
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment OMIM:300719
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spastic Paraparesis And Deafness
Cataract, Hypogonadism, Hearing impairment OMIM:312910
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy, Hearing impairment OMIM:165300
Nathalie Syndrome
Sensorineural hearing impairment, Cataract ORPHA:2663
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cle... ORPHA:63862
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele OMIM:213010
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Dandy-Walker malfo... ORPHA:1538
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Hypogonadism ORPHA:2815
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Heterochromia iridis, Hypergonadotropic hypogonadism, Abnormality of the middle... ORPHA:90646
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Parietal Foramina 2
Encephalocele OMIM:609597
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Orofacial cleft ORPHA:324416
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Joint hyperflexibility, Osteoporosis ORPHA:2787
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Pai Syndrome
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula ORPHA:1993
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip OMIM:611561
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly ORPHA:2117
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of th... ORPHA:2489
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Oculoauriculofrontonasal Syndrome
Encephalocele, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum ORPHA:398156
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Holoprosenc... OMIM:601357
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft palate, Cleft upper lip OMIM:613885
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele OMIM:200130
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Cleft lip, Cleft palate ORPHA:60015
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Optic atrophy, Gray matter heterotopia, Dysgyria, Type II... ORPHA:352682
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Cerebral cortical atrophy, Hearing impairment ORPHA:401830
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy, Spinocerebellar atrophy, Cochlear degeneration, Heari... ORPHA:95433
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormali... ORPHA:970
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Nathalie Syndrome
Cataract, Hearing impairment OMIM:255990
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Cofs Syndrome
Abnormality of retinal pigmentation, Prominent metopic ridge, Camptodactyly of finger, Joint stif... ORPHA:1466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Retinal detachment, Ventriculomegaly, Agenesis of cerebellar vermis, Hypopl... OMIM:613153
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... ORPHA:52368
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Bulbous nose, Optic atrophy, Colpocephaly, Lissencepha... ORPHA:2185
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate OMIM:603194
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus OMIM:129850
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Retinal pigment epithelial mottling, Iron accumulation in ... OMIM:619389
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral patter... OMIM:619302
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... OMIM:600791
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Flexion contracture, Hypoplasia o... OMIM:613155
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Frontonasal Dysplasia 1
Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Cranium... OMIM:136760
Holoprosencephaly 5
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Hydrocephalu... OMIM:609637
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Hypoplasia of the pons, Optic atrophy, Ce... OMIM:616171
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Retinal detachment, Occipital enc... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Retinal dysplasia, Cerebellar hypoplasia, Microphthalmia, Ventriculomegaly OMIM:614830
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Optic atrophy, Cer... ORPHA:1528
Pallister-Hall-Like Syndrome
Occipital encephalocele, Median cleft lip, Hydrocephalus, Cleft palate, Microglossia OMIM:241800
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Retinal dysp... OMIM:615771
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate OMIM:164180
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate OMIM:611134
Joubert Syndrome 18
Occipital encephalocele, Lobulated tongue, Cleft palate OMIM:614815
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Cleft palate OMIM:607361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydroce... OMIM:615181
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Pigmentary retinopathy, Optic atrophy, Retinopathy OMIM:610951
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Non-midline cleft lip, Cleft palate, Spin... ORPHA:1908
Meckel Syndrome 13
Occipital encephalocele OMIM:617562
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Hyperext... OMIM:610967
Joubert Syndrome 16
Encephalocele OMIM:614465
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Cleft palate, Ethmoidal encephalocele, Cleft upper lip OMIM:607597
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Hearing impairment OMIM:120433
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Craniotelencephalic Dysplasia
Frontal encephalocele OMIM:218670
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Multiple joint contractures, Cryptorchidism, Hip dislocation, Pigme... ORPHA:370968
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Arthrogryposis multiplex congenita, Cerebellar hypoplasia, Ventriculomegaly OMIM:616570
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Bifid uvula, Cleft palate OMIM:614175
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Chorioretinal colobom... ORPHA:1473
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy OMIM:619090
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Joubert Syndrome 22
Agenesis of cerebellar vermis, Coloboma, Retinal dysplasia, Molar tooth sign on MRI, Microphthalmia OMIM:615665
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... OMIM:611638
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Optic atrophy, Simplified gyral pattern OMIM:619470
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Frontal encephalocele ORPHA:521308
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Adult onset sensorineural hearing impairment, Cataract ORPHA:329314
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Cryptorchidism, Optic atrophy, Osteoporos... OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hydrocephalus, Flexion contracture, Coloboma, Hypoplasia of the brainstem... OMIM:615249
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Unilateral Ocular Duplication
Encephalocele, Median cleft lip, Cleft palate ORPHA:3374
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Polymicrogyria, Depressed nasal bridge ORPHA:83473
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Flexion contracture, Optic atrophy OMIM:300884
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Developmental cataract, Brain atrophy, Macrotia OMIM:619420
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Abnormal optic nerve morphology ORPHA:85335
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Ventriculomegaly, Thrombocytopenia, Hydrocephalus, Lymphaden... ORPHA:858
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Alexander Disease
Death in infancy, Hydrocephalus, Death in adolescence, Death in childhood, Increased CSF protein ... OMIM:203450
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Retinal dystrophy, Elongated sup... ORPHA:370022
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... ORPHA:1532
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebral atrophy, Macrotia, Cerebellar vermis atrophy, Cataract OMIM:616154
Frontorhiny
Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Bifid tongue ORPHA:391474
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus ORPHA:2476
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Distal Deletion 13Q
Encephalocele, Anencephaly, Holoprosencephaly, Anal atresia ORPHA:1590
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hyperreflexia
Ankle clonus, Abnormality of retinal pigmentation OMIM:145290
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... OMIM:609220
Hao-Fountain Syndrome
Large fontanelles, Delayed cranial suture closure OMIM:616863
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Cryptorchidism, Sensorineural h... ORPHA:2377
Full Schwannomatosis
Cataract, Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Uterine leiomyoma,... ORPHA:93921
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Sensorineural hearing impairment, Cataract OMIM:614932
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked poten... OMIM:619260
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Decreased calvarial ossification, Wormian bones, Bowing of limbs due... OMIM:259410
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Hydrocephalus, Meningocele, Cleft palate, Short philtr... OMIM:614424
Joubert Syndrome 9
Encephalocele OMIM:612285
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Macrotia, Posteriorly rotated ears, Cataract OMIM:618392
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:90654
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, Vaginal hernia, EEG abnormality, Cerebral cortical atrophy ORPHA:3173
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Retinal detachment, Osteoporosis, Abnormal vitreous humor morphology, I... ORPHA:2788
Diprosopus
Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Retinitis Pigmentosa
Keratoconus, Hypoplasia of penis, Cataract, Sensorineural hearing impairment, Optic atrophy, Hypo... ORPHA:791
Lissencephaly 8
Occipital encephalocele, Optic atrophy, Retrocerebellar cyst, Hypoplasia of the brainstem, Cerebe... OMIM:617255
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Abnormality of the dentition, Broad philtrum, Conical tooth ORPHA:228390
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Kleeblattschaedel
Hydrocephalus OMIM:148800
Pseudoprogeria Syndrome
Cranium bifidum occultum ORPHA:2985
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Irregular dentition, Delayed eruption of teeth, Tented upper lip vermilion, Cleft ... OMIM:619148
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abn... ORPHA:163961
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Rieger anomaly, Abnormal auditory evoked potentials, Abnormally... OMIM:109120
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Ethmoidal encephalocele ORPHA:280195
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Decreased response to growth hormone stimulation test, Sensorineural hearing impairment... ORPHA:436174
Frontofacionasal Dysplasia
Encephalocele, Non-midline cleft lip, Cleft palate ORPHA:1791
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Non-midline cleft lip, Anencephaly, Cleft palate, Orofacial cleft ORPHA:1335
Bruck Syndrome
Recurrent fractures, Joint stiffness, Osteoporosis, Wormian bones, Arthrogryposis multiplex conge... ORPHA:2771
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Wormian bones, Th... OMIM:619795
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Low-set, posteriorly rotated ears, Cataract ORPHA:1373
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618174
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Aganglionic megacolon, Ventriculomegaly OMIM:304100
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Sensorineural heari... ORPHA:3085
Pendred Syndrome
Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp... ORPHA:705
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Chorioretinal coloboma, Molar tooth sign o... OMIM:619111
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Orofacial cleft ORPHA:220497
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Ventriculomegaly OMIM:617613
Melanosis, Neurocutaneous
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:93274
Aicardi-Goutieres Syndrome 4
Hydrocephalus, CSF lymphocytic pleiocytosis, Death in childhood, Convex nasal ridge, Ventriculome... OMIM:610333
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Ankle swelling, Abnormal cerebrospinal fluid morphology, ... ORPHA:448237
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:612284
Wilson-Turner Syndrome
Cataract, Hypogonadotropic hypogonadism, Uplifted earlobe, Cryptorchidism, Microtia ORPHA:3459
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Optic atrophy OMIM:274270
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Meningocele, Wide mouth, Median cleft palate ORPHA:1827
Leber Congenital Amaurosis 1
Keratoconus, Sensorineural hearing impairment, Cataract, Optic disc drusen OMIM:204000
Peroxisome Biogenesis Disorder 11B
Cataract, Hearing impairment OMIM:614885
Leber Congenital Amaurosis 2
Optic disc pallor, Cerebellar vermis hypoplasia, Fundus atrophy, Absent foveal reflex, Pigmentary... OMIM:204100
Crouzon Syndrome
Hydrocephalus, Optic atrophy, Hypopigmented skin patches, Multiple suture craniosynostosis, Melan... ORPHA:207
Intestinal Dysmotility Syndrome
Cataract, Low-set ears OMIM:620045
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairme... OMIM:612674
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... OMIM:259440
Oliver-Mcfarlane Syndrome
Central heterochromia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pig... OMIM:275400
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation, Hearing impairment ORPHA:67048
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
1Q21.1 Microduplication Syndrome
Arthrogryposis multiplex congenita, Hydrocephalus, Hip dislocation, Cryptorchidism ORPHA:250994
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cryptorchidism, Cerebellar hypoplasia, Neonatal death, Microphthalmia, Ventric... OMIM:613730
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Retinopathy ORPHA:26
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Protruding ear, Abnormal testis morphology, Hearing impairment ORPHA:317
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Hydrocephalus, Wide nasal bridge, Short nose, Agenesis of corpus callosum, Vent... OMIM:618577
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Olivopontocerebellar atrophy, Pigmentary retinopathy OMIM:164500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Optic nerve hypop... OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Flexion contracture, Optic atrophy, Pigm... OMIM:613154
Joubert Syndrome 7
Encephalocele OMIM:611560
Grant Syndrome
Joint dislocation, Large fontanelles, Decreased skull ossification, Joint hyperflexibility, Wormi... ORPHA:2097
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Orofacial cleft ORPHA:220493
Dentici-Novelli Neurodevelopmental Syndrome
Cataract, Precocious puberty, Hypsarrhythmia, Macrotia, Hearing impairment OMIM:619877
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Ankle clonus, Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hy... ORPHA:506353
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Abnormality of bone mineral density ORPHA:3156
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Retinal dystrophy... OMIM:608091
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology, Increased CSF lactate, Abnormal CS... ORPHA:255182
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Decreased testicular size, Cataract, Corpus callosum atrophy, Cerebral atroph... ORPHA:320391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Cryptorchidism, Flexion contracture, Hip dislocation, Pigmentary re... OMIM:613156
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Wide n... OMIM:220220
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Sensorineural hearing impairment, Optic atrophy, Chorioretinal ... ORPHA:163937
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Orofacial cleft, Spina... ORPHA:63259
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Narrow palate, Cleft palate, Downturned corners of mouth, High pala... OMIM:605627
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Increased CS... OMIM:616034
Albers-Schönberg Osteopetrosis
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular ... ORPHA:53
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Occipital encephalocele, Narrow mouth OMIM:224410
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Patent ductus arteriosus after birth at term, Hypoplasia of the semici... ORPHA:251061
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Combined Oxidative Phosphorylation Deficiency 47
Cataract, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Low-set ears OMIM:618958
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the... OMIM:616300
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Ventriculomegaly, Generalized hyperpigmentation, Numerous co... ORPHA:2481
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Increased bone mineral density, Wide anterior fontanel, Abnormality of the el... ORPHA:163649
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Wide mouth, Esophageal varix OMIM:216360
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus, Wide nasal bridge, Underdeveloped nasal alae ORPHA:1516
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Stickler Syndrome, Type V
Sensorineural hearing impairment, Cataract OMIM:614284
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Hydrocephalus, Flexion contracture, Optic atrophy, Retinal dysplasia, Ve... ORPHA:272
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Decreased sensory ne... OMIM:162400
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cataract, Hearing impairment OMIM:301075
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Death in infancy OMIM:600559
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Cataract, Optic atrophy, Protruding ear, Macrotia, Cerebral cortical atrophy OMIM:617481
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Remnants... ORPHA:649
Walker-Warburg Syndrome
Retinal detachment, Ventriculomegaly, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, C... ORPHA:899
Griscelli Syndrome
Encephalocele, Pyloric stenosis, Hydrocephalus ORPHA:381
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Cataract, Sensorineural hearing impairment, Optic atrophy, EEG... ORPHA:44
Pierpont Syndrome
Joint laxity, Cryptorchidism, Chiari malformation, Microphthalmia, Ventriculomegaly ORPHA:487825
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Cleft palate OMIM:224400
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Cataract, Optic atrophy, Cerebral atrophy, EEG abnormality, Low-set ears ORPHA:544469
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Temtamy Syndrome
Joint hyperflexibility, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Genu varum ORPHA:1777
Duplication Of The Pituitary Gland
Encephalocele, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Volvulus ORPHA:314621
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Xq21 Microdeletion Syndrome
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... ORPHA:1435
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Hypoplasia of the pons, Spina... OMIM:618736
Joubert Syndrome
Encephalocele, Hydrocephalus, Aganglionic megacolon, Orofacial cleft ORPHA:475
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Nanophthalmos 2
Microphthalmia OMIM:609549
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Hypogonadism, Hearing impairment OMIM:302950
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Cataract OMIM:132450
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Cryptorchidism, Flexion contracture, Osteoporosis, Elbow flexion contracture,... OMIM:214150
Constricting Bands, Congenital
Encephalocele, Cleft palate, Cleft upper lip OMIM:217100
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Depressed nasal bridge, Ventriculomegaly OMIM:602501
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hydrocephalus, White hair, Ocular albinism, Abnormal brainstem morpho... ORPHA:2720
Srd5A3-Cdg
Cerebellar atrophy, Optic disc hypoplasia, Decreased response to growth hormone stimulation test,... ORPHA:324737
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Cleft palate, Narrow mouth ORPHA:1865
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Distal Deletion 10Q
Congenital sensorineural hearing impairment, Patent ductus arteriosus, Cochlear malformation, Pro... ORPHA:96148
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Diencephalic Syndrome
Hydrocephalus, Optic atrophy ORPHA:1672
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Splenomegaly, Patent ductus arteriosus, Abnormality of the f... ORPHA:290
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Wide anterior fontanel, Cryptorchidism, Poorly ossified vertebrae, ... OMIM:619135
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Optic atrophy, Simplified gyral pattern... OMIM:615219
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Retinal degenerati... ORPHA:3363
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Cataract OMIM:616108
Gombo Syndrome
Microphthalmia OMIM:233270
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Ventriculomegaly ORPHA:2515
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Cataract, Cerebral cortical atrophy ORPHA:29
2Q24 Microdeletion Syndrome
Microphthalmia, Coloboma, Camptodactyly of finger ORPHA:1617
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge ORPHA:380
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... ORPHA:861
Vici Syndrome
Abnormality of retinal pigmentation, Joint stiffness, Hypoplasia of the pons, Decreased circulati... ORPHA:1493
Biemond Syndrome Type 2
Microphthalmia, Coloboma, Hydrocephalus ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Vent... OMIM:614643
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Reduced bone mineral density, Wormian bones, Coronal craniosynos... OMIM:112240
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Wagr Syndrome
Cataract, Hearing abnormality, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitali... ORPHA:893
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Joint stiffness, Macular dege... ORPHA:816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia OMIM:613150
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge OMIM:618302
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Retinal dystrophy, Pigmentary ret... OMIM:608629
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Hydrocephalus, Pierre-Robin sequence, Cleft palate, Glossoptosis... ORPHA:90652
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Pseudotrisomy 13 Syndrome
Encephalocele, Cleft upper lip, Hydrocephalus, Holoprosencephaly, Anal atresia, Median cleft lip ... OMIM:264480
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Abnormality of retinal pigmentation, Craniosynostosis ORPHA:1496
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Micropenis, Hearing impairment OMIM:610756
Vacterl/Vater Association
Occipital encephalocele, Non-midline cleft lip, Anencephaly, Tracheoesophageal fistula, Cleft pal... ORPHA:887
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Large fontanelles, Rad... ORPHA:171839
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormality of the fontanelles or cranial sutures ORPHA:2432
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Microphthalmia, Syndromic 13
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Juvenile Paget Disease
Abnormality of retinal pigmentation, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Opt... ORPHA:2801
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Hydrocephalus, Orofacial cleft, Cleft palate, Holoprosence... ORPHA:2166
Infantile Sialic Acid Storage Disease
Osteopenia, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Fair hair, Hypopigmentation of t... OMIM:269920
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Hydrocephalus, Optic... ORPHA:1914
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Increased laxity of ankles, Hydrocephalus, Flexion contracture, Optic atrophy ORPHA:99947
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Trisomy 13
Cataract, Cryptorchidism, Sensorineural hearing impairment, Patent ductus arteriosus, Optic atrop... ORPHA:3378
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Splenomegaly, Hydr... OMIM:259700
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Hydrocephalus, Abnormality of neuronal migration, Short nose ORPHA:1895
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Joint hyperflexibility, Abnormality of retinal pigmentation... ORPHA:1390
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Cryptorchidism, Ambiguous genit... ORPHA:2772
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Hydro... OMIM:620157
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Wide nose, Patent ductus arteriosus, Long nose ORPHA:2184
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Retinal dystrophy, Abnormal brainstem morphology, Buphthalmos, Abno... ORPHA:370997
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Wormian bones, Genera... OMIM:613849
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Craniosynostosis, Cryptorchidism, Hydrocephalus, Metopic synostosis, Camptodact... OMIM:175700
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen... OMIM:207950
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Joubert Syndrome 30
Cerebellar atrophy, Dandy-Walker malformation, Retinal dystrophy, Molar tooth sign on MRI, Superi... OMIM:617622
Micro Syndrome
Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Joint stiffness, Abnormal cere... ORPHA:2510
Autosomal Recessive Stickler Syndrome
Sensorineural hearing impairment, Cataract, Astigmatism ORPHA:250984
Usher Syndrome Type 2
Cataract, Sensorineural hearing impairment, Abnormality of the inner ear, Subcortical cerebral at... ORPHA:231178
Craniosynostosis 6
Cerebellar atrophy, Delayed cranial suture closure, Craniosynostosis, Spina bifida occulta, Later... OMIM:616602
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Cerebral cortical atrophy, Low-set ears OMIM:619527
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Cataract, Cerebral atrophy OMIM:619851
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Bresek Syndrome
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Neonatal death,... ORPHA:85284
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Autosomal Recessive Spastic Paraplegia Type 15
Abnormal cerebellum morphology, Retinal flecks, Yellow/white lesions of the retina, Pigmentary re... ORPHA:100996
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Fused cervical ver... OMIM:609053
Infantile Refsum Disease
Cataract, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Hearing impairment ORPHA:772
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Microcytic anemia, Optic atrophy, Abnormality of skin pigmentation,... OMIM:612379
Adams-Oliver Syndrome 2
Depressed nasal bridge, Bulbous nose, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation,... OMIM:614219
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Absent testis OMIM:613094
Joubert Syndrome 28
Joint laxity, Optic disc pallor, Molar tooth sign on MRI, Pigmentary retinopathy OMIM:617121
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Cataract, Cryptorchidism, Patent ductus arteriosus, Brain atrophy, Cerebral c... OMIM:620327
Cerebrooculofacioskeletal Syndrome 4
Premature closure of fontanelles, Camptodactyly of finger, Abnormal retinal morphology, Bilateral... OMIM:610758
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Aganglionic megacolon ORPHA:2318
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Wormian bones, Generalized osteoporosis, Joi... OMIM:617952
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degener... ORPHA:77299
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Ramon Syndrome
Abnormality of retinal pigmentation, Osteolysis ORPHA:3019
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Retinal detachment, Hydrocephalus, Flexion contracture, Optic atrophy, Hypoplasia ... OMIM:253800
Nasu-Hakola Disease
Hydrocephalus, Bone cyst, Limitation of joint mobility, Reduced bone mineral density, Acute leuke... ORPHA:2770
Cohen Syndrome
Chorioretinal dystrophy, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Decreas... OMIM:216550
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Papilledema, Hydrocephalus OMIM:260500
Metatropic Dysplasia
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Hydrocephalus, Abnorm... ORPHA:2635
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Pigmentary retinopathy, Focal T2 hyperintense thalamic les... ORPHA:79264
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Osteoporosis OMIM:618234
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Cerebellar vermis hypoplasia, Splenomegaly, Hydrocephalus, Genu valgum, Retinal... OMIM:615630
Ulna Hypoplasia-Intellectual Disability Syndrome
Elbow dislocation, Large fontanelles, Delayed cranial suture closure, Joint stiffness ORPHA:2249
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Microcornea, Chorioreti... ORPHA:139471
Proteus-Like Syndrome
Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Genu recurvatum, Splenomegal... ORPHA:2969
Joubert Syndrome 15
Retinal dystrophy, Exencephaly, Coloboma, Molar tooth sign on MRI, Retinopathy OMIM:614464
Craniosynostosis 2
Craniosynostosis, Unicoronal synostosis, Metopic synostosis, Wormian bones, Bicoronal synostosis OMIM:604757
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar atrophy, Abnormal brainstem morp... ORPHA:300573
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Abnormal tha... ORPHA:467166
Joubert Syndrome 37
Prominent metopic ridge, Cerebellar vermis hypoplasia, Cryptorchidism, Molar tooth sign on MRI, M... OMIM:619185
Warburg Micro Syndrome 2
Cataract, Small scrotum, Asymmetry of the ears, Cryptorchidism, Optic atrophy, Developmental cata... OMIM:614225
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal... ORPHA:529808
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Anteverted nares, Prominent nasal bridge, Short nose OMIM:300558
Acute Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal... ORPHA:529799
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Hearing impairment OMIM:613398
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Frontonasal Dysplasia 2
Encephalocele, Widely spaced teeth, Broad philtrum, Conical tooth OMIM:613451
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal brai... ORPHA:98755
Sturge-Weber Syndrome
Retinal detachment, Abnormal retinal vascular morphology, Hydrocephalus, Optic atrophy, Hyperosto... ORPHA:3205
Fanconi Anemia, Complementation Group R
Radial dysplasia, Hydrocephalus, Chiari type I malformation, Bone marrow hypocellularity, Microph... OMIM:617244
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla... OMIM:610688
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
47,Xyy Syndrome
Macroorchidism, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin level, Abnormal... ORPHA:8
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Hemolytic anemia, Neutropenia OMIM:266130
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora, Retinal coloboma, L... OMIM:244300
Cln3 Disease
Cerebellar atrophy, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary ret... ORPHA:228346
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Osteoporosis, Camptodactyly of finger, Ventriculomegaly ORPHA:48431
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Lateral ventricle dilatation, Abnormal dentate nucleus morph... OMIM:619517
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Osteoporosis, Joint hyperflexibility, Microph... ORPHA:85194
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Large earlobe, Hypogonadism, Decrea... ORPHA:127
Lethal Osteosclerotic Bone Dysplasia
Large fontanelles, Delayed cranial suture closure ORPHA:1832
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Curry-Jones Syndrome
Craniosynostosis, Optic disc coloboma, Hypopigmented skin patches, Microphthalmia, Iris coloboma,... ORPHA:1553
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Large fontanelles, Osteolyti... OMIM:259100
Mulibrey Nanism
Pigmentary retinopathy, Iris coloboma, Thickened cortex of long bones, Ventriculomegaly OMIM:253250
Holoprosencephaly
Encephalocele, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Hydrocephalus,... ORPHA:2162
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Esophageal varix ORPHA:974
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Cataract, Sensorineural hearing impairment, Optic atrophy, Bilateral sensorine... OMIM:268315
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Cryptorchidism, Optic atrophy, Chorioretinal coloboma, Microphthalm... ORPHA:494344
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Anteverted nares, Depressed nasal bridge, Prominent nose, Hydrocephalus, Bulbous nose, Wide nasal... ORPHA:2180
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Abnormal cerebellum morphology, Patent ductus arteriosus, Coloboma, Mic... OMIM:618652
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Increased susceptibility to f... OMIM:610968
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Hearing impairment ORPHA:414
Narp Syndrome
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Peroxisome Biogenesis Disorder 10B
Cataract, Posteriorly rotated ears, Low-set ears OMIM:617370
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Osteogenesis Imperfecta, Type Xxi
Wormian bones, Osteoporosis, Recurrent fractures, Joint hypermobility OMIM:619131
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Gomez-Lopez-Hernandez Syndrome
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia... OMIM:601853
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Pancytopenia, Impaired T cell function, Splenomegaly, Hydrocephalus, Thromboc... OMIM:614576
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Polymicrogyria, Agenesis of corpus callosum, Da... OMIM:225790
Warburg Micro Syndrome 3
Decreased testicular size, Cataract, Small scrotum, Hypoplastic labia minora, Optic atrophy, Deve... OMIM:614222
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... OMIM:166220
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Limited wrist extension, Distal arthrogryposis, Congenital f... OMIM:108145
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaph... OMIM:618476
Pierpont Syndrome
Microphthalmia, Cryptorchidism, Chiari malformation OMIM:602342
Joubert Syndrome 8
Occipital encephalocele OMIM:612291
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormal brainstem morphology ORPHA:79279
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Lambdoidal craniosynostosis, Wormian bones... OMIM:616294
Atelosteogenesis, Type I
Encephalocele, Stillbirth, Neonatal death, Cleft palate OMIM:108720
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Sp... OMIM:259720
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Hydro... OMIM:620155
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Abnormality of the fontanelles or cranial sutures, Ho... ORPHA:3376
Holoprosencephaly 14
Ventriculomegaly, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Per... OMIM:619895
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon ORPHA:275543
Acromelic Frontonasal Dysostosis
Encephalocele, U-Shaped upper lip vermilion, Cleft palate, Cleft upper lip OMIM:603671
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Cryptorchidism, Optic atrophy, Conjunctivitis, Mal... ORPHA:90321
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Microphthalmia, Flexion contracture, Optic nerve hypoplasia OMIM:614833
Microphthalmia, Syndromic 5
Joint laxity, Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasi... OMIM:610125
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Optic atrophy ORPHA:93262
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cryptorchidism, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Premature Aging Syndrome, Okamoto Type
Cataract, Abnormal pinna morphology, Low-set ears OMIM:601811
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Wormian bones, Thin bony cortex ORPHA:85184
Otodental Syndrome
High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Retinal co... ORPHA:2791
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Limb Body Wall Complex
Encephalocele, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalus, Anencephaly, Cleft palat... ORPHA:2369
Central Precocious Puberty In Male
Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma, Abnormality of the testis size ORPHA:649929
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Coloboma, Iris coloboma OMIM:610023
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hypermelanotic macule, Hydrocephalus, Optic atrophy, Joint hyperflexibility, Chiari malformation,... ORPHA:60040
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Peho Syndrome
Cerebellar atrophy, Hydrocephalus, Flexion contracture, Optic atrophy, Limitation of joint mobili... ORPHA:2836
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele OMIM:614195
Thanatophoric Dysplasia
Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Ventric... ORPHA:2655
Norrie Disease
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi... OMIM:310600
Pettigrew Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Flexion contr... OMIM:304340
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum ORPHA:588
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate, Spina bifida ORPHA:957
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Brain atrophy, Hearing impairment OMIM:620114
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Microcornea, Iri... OMIM:617306
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Hydrocephalus, Flexion contracture, Hip dislocation, Genu valgum,... OMIM:613330
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Fusion of the left and right thalami, Midline brainstem cleft OMIM:617542
Galactokinase Deficiency
Sensorineural hearing impairment, Cataract, Nuclear cataract, Hypergonadotropic hypogonadism ORPHA:79237
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Marden-Walker Syndrome
Wide anterior fontanel, Cryptorchidism, Radioulnar synostosis, Congenital contracture, Hypoplasia... OMIM:248700
Slc35A2-Cdg
Osteopenia, Cerebellar atrophy, Limb joint contracture, Camptodactyly of finger, Craniosynostosis... ORPHA:356961
Desmoid Tumor
Abnormality of retinal pigmentation, Limitation of joint mobility, Osteolysis ORPHA:873
Krabbe Disease
Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Increased CSF protein concentr... OMIM:245200
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Stevenson-Carey Syndrome
Coloboma, Cerebellar hypoplasia, Camptodactyly, Microphthalmia, Joint contracture of the hand OMIM:611961
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Delayed cranial sut... ORPHA:95717
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Brachydactyly, Type B1
Vertebral fusion, Wide anterior fontanel, Camptodactyly, Joint contracture of the hand, Delayed c... OMIM:113000
Stromme Syndrome
Accessory spleen, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Stillbirth... OMIM:243605
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Microphthalmia, Increased CSF protein concentrati... ORPHA:209956
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Patent ductus arteriosus, Hydrocephalus, Lissencephaly, Death in childhood, Dan... OMIM:612938
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia, Vent... OMIM:616538
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atroph... ORPHA:3301
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Holoprosencephaly, Craniosynostosis ORPHA:2163
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Hydrocephalus, Optic atrophy, Colpocephaly, Distal arthrogryposis, Acetabular... OMIM:619833
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones, Thin bony cortex OMIM:619638
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig... ORPHA:2715
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Subco... ORPHA:309288
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... OMIM:212550
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Hip dislocation, Ventriculomegaly, Increased CSF lactate OMIM:619059
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Hydrocephalus, Bilateral microphthalmos, Retinal coloboma,... ORPHA:2839
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Increased CSF lactate, Pigmentary retinopathy, Focal subs... OMIM:256000
Joubert Syndrome 1
Optic disc pallor, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Cerebellar ve... OMIM:213300
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Flexion contracture, Optic atrophy OMIM:252011
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Persistent open anterior fontanelle, Cerebellar vermis hypoplasia, Cong... ORPHA:357058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmo... OMIM:253280
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Papillorenal Syndrome
Joint laxity, Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc co... OMIM:120330
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Reduced circulating prolactin concentration, Osteoporosis, Reduced bone mine... ORPHA:2235
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairme... OMIM:610651
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Decreased skull ossification, Calvarial osteosclerosi... ORPHA:93324
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Wide cranial sutures, Interphalangeal joint contracture of finger, A... OMIM:259600
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Orofacial cleft ORPHA:1454
Fg Syndrome Type 1
Limited elbow extension and supination, Progressive flexion contractures, Optic nerve hypoplasia,... ORPHA:93932
Optic Pathway Glioma
Papilledema, Hydrocephalus, Optic atrophy ORPHA:2086
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anteverted nares, Ventriculomegaly OMIM:616362
Warburg Micro Syndrome 4
Cerebellar atrophy, Cryptorchidism, Flexion contracture, Optic atrophy, Microphthalmia, Decreased... OMIM:615663
Adams-Oliver Syndrome 4
Microphthalmia, Patent ductus arteriosus OMIM:615297
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy, Joint contracture of ... OMIM:609033
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly, Long philtrum ORPHA:2211
Oculofaciocardiodental Syndrome
Retinal detachment, Patent ductus arteriosus, Flexion contracture of the 4th toe, Genu valgum, Ra... ORPHA:2712
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Delayed epiphyseal ossificat... ORPHA:79106
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Camptodactyly ORPHA:444051
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Cataract OMIM:614879
Nance-Horan Syndrome
Microcornea, Cataract, Protruding ear ORPHA:627
Temtamy Syndrome
Hip dislocation, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ventriculomegaly OMIM:218340
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Decreased skull ossification, Large fontanelles ORPHA:93267
Functioning Gonadotropic Adenoma
Osteopenia, Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, ... ORPHA:91348
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy, Increased CSF protein concentration OMIM:619473
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Wolfram Syndrome 1
Cataract, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Testicular atrophy OMIM:222300
Curry-Jones Syndrome
Ventriculomegaly, Unicoronal synostosis, Lipomyelomeningocele, Chiari type I malformation, Wormia... OMIM:601707
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Polycystic ovaries OMIM:268020
Trisomy 18
Abnormality of retinal pigmentation, Camptodactyly of finger, Spina bifida, Cryptorchidism, Anenc... ORPHA:3380
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Multiple cafe-au-lait spots, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Joint stiffness, Splenomegaly, Hydrocephalus, Optic atrophy ORPHA:585
Hemangioblastoma
Cerebellar edema, Hydrocephalus, Retinal capillary hemangioma, Cerebellar hemangioblastoma ORPHA:252054
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Iris coloboma OMIM:610092
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Anteverted nares, Short nose ORPHA:2701
Craniometadiaphyseal Dysplasia
Osteopenia, Wide anterior fontanel, Genu valgum, Sclerosis of skull base, Wormian bones, Cubitus ... OMIM:269300
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly, Broad nasal tip OMIM:609757
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Abnormal trabecular bone morphology, Splenomegaly, Hydrocephalus... OMIM:612301
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Generalized joint laxity, Pigmentary retinopathy, Cerebellar hypoplasia, Abnor... ORPHA:502423
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Aniridia, Microphthalmia, Hypoplastic spleen, Decreased skull ossification OMIM:602361
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Coloboma, Holoprosencephaly,... OMIM:147250
Desmosterolosis
Depressed nasal bridge, Abnormal cortical gyration, Abnormality of the nose, Patent ductus arteri... ORPHA:35107
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hydrocephalus, Depressed nasal ridge, Short nose ORPHA:163966
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Optic disc hypoplasia, ... OMIM:619306
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Optic atrophy, Cereb... OMIM:618590
Canavan Disease
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy ORPHA:141
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Persistent open anterior fontanelle, Brushfield spots, Splenomegaly, Wide ant... OMIM:614866
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Craniosynostosis 4
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... OMIM:600775
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cataract, Optic atrophy, Bilateral sensorineural hearing impairment, Low-set ... OMIM:620089
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... OMIM:166200
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
3C Syndrome
Ventriculomegaly, Hydrocephalus, Optic atrophy, Abnormality of the fontanelles or cranial sutures... ORPHA:7
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Baraitser-Winter Syndrome 1
Cryptorchidism, Patent ductus arteriosus, Chorioretinal coloboma, Microphthalmia, Iris coloboma, ... OMIM:243310
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hydrocephalus, Osteoporosis, Hypoplasia of the brainstem, Increa... ORPHA:2169
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ventriculomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentr... OMIM:272200
Meckel Syndrome
Encephalocele, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Anencephaly, Cleft palate, Lobar ... ORPHA:564
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Frontofacionasal Dysplasia
Cranium bifidum occultum, Bifid uvula, Orofacial cleft, Cleft upper lip OMIM:229400
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brain... OMIM:617822
Vogt-Koyanagi-Harada Disease
Sensorineural hearing impairment, Cataract ORPHA:3437
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Cataract, Hypospadias, External ear malformation, Cryptorchidi... ORPHA:568
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Optic disc coloboma, Hypoplastic acetabulae, Microphthalmia, Spina bi... OMIM:169550
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Grant Syndrome
Wormian bones OMIM:138930
Donnai-Barrow Syndrome
Cataract, Posteriorly rotated ears, Sensorineural hearing impairment, Hypoplasia of the iris, Bic... OMIM:222448
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Microphthalmia... OMIM:152950
Cataract 9, Multiple Types
Microphthalmia, Iris coloboma OMIM:604219
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Hydro... ORPHA:59315
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Multiple prenatal fractures, Absent ossification of calvaria, Large fontanel... OMIM:166210
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Anophthalmia, Neonatal death OMIM:615524
Alport Syndrome 2, Autosomal Recessive
Anterior lenticonus, Corneal erosion, Cataract, Hearing impairment OMIM:203780
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Congenital hip dislocation, Cryptorchidism, Hydrocephalus, Hypopigmented skin p... ORPHA:1647
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Decreased CSF biopterin level, Reduced bone mineral density, Shoulder... ORPHA:404454
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op... ORPHA:50
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma, Ventriculomegaly OMIM:614583
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Cataract, Cryptorchidism, Sensorineural hearing impairment, L... ORPHA:85321
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Wormian bones, Recurrent fractures, Multiple prenatal fractures, Wide a... OMIM:610915
Pontocerebellar Hypoplasia, Type 7
Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Optic atrophy, Hypoplasia of the brainstem... OMIM:614969
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birth, Delayed closure of ... OMIM:618460
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Cryptorchidism, Osteoporosis, Prema... OMIM:613990
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:2356
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Hydrocephalus, Patent ductus ... OMIM:614886
Gorlin Syndrome
Vertebral fusion, Cryptorchidism, Hydrocephalus, Melanocytic nevus, Iris coloboma ORPHA:377
Meckel Syndrome, Type 1
Occipital encephalocele, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upp... OMIM:249000
Temple Syndrome
Wide nose, Hydrocephalus, Anteverted nares, Depressed nasal bridge OMIM:616222
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Hip dislocation, Wormian bones, Delayed cranial suture closure OMIM:616603
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Delayed epiphyseal ossification, E... ORPHA:289157
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cerebellar vermis hypoplasia, Delayed cranial suture closure, Flexion contracture, Optic atrophy,... OMIM:619383
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Hydrocephalus, Patent ductus arteriosus, Pigmentary retinopathy, Dandy-Walker malfo... OMIM:612582
Dystonia-Deafness Syndrome 1
Sensorineural hearing impairment, Cataract OMIM:607371
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Genu... ORPHA:193
Menkes Disease
Joint laxity, Wormian bones, Osteoporosis OMIM:309400
Schinzel-Giedion Syndrome
Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Hypospadias, Hypsarrhythmia, Micr... ORPHA:798
Ritscher-Schinzel Syndrome 1
Coloboma, Hydrocephalus, Decreased response to growth hormone stimulation test, Dandy-Walker malf... OMIM:220210
Heart And Brain Malformation Syndrome
Prominent metopic ridge, Cerebellar vermis hypoplasia, Camptodactyly of finger, Wide anterior fon... OMIM:616920
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Knobloch Syndrome 2
Encephalocele, Pyloric stenosis, Enamel hypoplasia OMIM:618458
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hydrocephalus, Hypopigmented ... ORPHA:53271
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Cubitus valgus, Camptodactyly, Knee flexion contracture OMIM:619694
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Crouzon Syndrome
Sagittal craniosynostosis, Hydrocephalus, Optic atrophy, Lambdoidal craniosynostosis, Coronal cra... OMIM:123500
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Fractured radius, Multiple prenatal fractures, Flexion contracture, Cerebellar hypopl... OMIM:616897
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Hydrocephalus, Decreased skull ossification OMIM:300863
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Wormian bones, Anterior hypopi... ORPHA:2863
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Macrotia, Cerebral cortical atrophy, EEG wi... OMIM:617864
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Pancytopenia, Retinal telangiectasia, Premature graying of hair, Bone marrow hypocell... OMIM:617341
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Protruding ear ORPHA:247768
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm ORPHA:523
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Joint laxity, Sideroblastic anemia, Pappenheimer bodies, Microcytic anemia, Pigmentary retinopath... OMIM:600462
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Recurrent fractures, Decreased calvarial ossification, Wormian bones, Joint hypermobi... OMIM:616229
Aicardi Syndrome
Retinal detachment, Cerebellar vermis hypoplasia, Block vertebrae, Spina bifida, Chorioretinal la... OMIM:304050
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Joint laxity, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Genu valgum, Lateral ventricl... ORPHA:300570
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:603387
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Enlargement of the wrists, Reduced bone mineral density,... ORPHA:83629
Joubert Syndrome 39
Occipital encephalocele OMIM:619562
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Dental crowding, Cleft upper lip, Myelomening... OMIM:219000
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Monosomy 9Q22.3
Ovarian fibroma, Hydrocephalus, Joint hyperflexibility, Chiari malformation, Metopic synostosis, ... ORPHA:77301
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Abnormal pancreas morphology, Abnormal th... ORPHA:48818
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Retinal pigment epithelial mottling, Lateral ventricle dilatation OMIM:614105
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Sclerocorne... OMIM:206900
Cadds
Cerebellar atrophy, Sensorineural hearing impairment, Cataract ORPHA:369942
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Hyperextensibility of the knee, Osteoporosis, Hypermyelinated retinal nerve ... OMIM:601812
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasi... OMIM:615948
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Splenomegaly, Hydrocephalus, Flexion contractur... OMIM:309900
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Bulbous nose, Wide nasal bridge, Noncommunicating hydrocephalus, Agenesis of co... OMIM:619320
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Joint stiffness, Thrombocytopenia, Hydrocephalus, Flexion co... ORPHA:505248
Hydrolethalus
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Abnormality of the sense of smell ORPHA:2189
Fanconi Anemia, Complementation Group B
Aplastic anemia, Optic disc hypoplasia, Thrombocytopenia, Hydrocephalus, Patent ductus arteriosus... OMIM:300514
Cowden Syndrome 5
Cataract, Hearing impairment, Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Lowry-Maclean Syndrome
Osteopenia, Craniosynostosis, Bilateral cryptorchidism, Hydrocephalus, Osteoporosis, Small anteri... ORPHA:2409
Fraser Syndrome
Encephalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, Dental malocclu... ORPHA:2052
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Abnormality of retinal pigmentation, Optic atrophy, Joint hyperflexibi... ORPHA:192
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Microph... ORPHA:77298
Joubert Syndrome 5
Occipital encephalocele, Cleft palate OMIM:610188
Temple Syndrome
Few cafe-au-lait spots, Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimu... ORPHA:254516
Mend Syndrome
Abnormal auditory evoked potentials, Cataract, Low-set ears, Cryptorchidism ORPHA:401973
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Joint hyperflexibility, Shoulder dislocation, Hydrocephalus ORPHA:2181
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Hearing impairment, Cryptorchidism,... ORPHA:284160
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... ORPHA:167
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor OMIM:300887
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Bulbous nose, Wide nasal bridge ORPHA:1237
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Congenital hip dislocation, Hydrocephalus, Large fontanelles, Wormian bones, Joint hy... OMIM:612940
Cowden Syndrome 6
Cataract, Goiter, Hydrocele testis, Ovarian cyst, Varicocele, Hearing impairment OMIM:615109
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Spondyloepimetaphyseal Dysplasia, Krakow Type
Ulnar deviation of the wrist, Elbow contracture, Hydrocephalus, Patent ductus arteriosus, Annular... OMIM:618162
Cockayne Syndrome A
Cerebellar atrophy, Cataract, Abnormal pinna morphology, Abnormal auditory evoked potentials, Dec... OMIM:216400
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... ORPHA:2334
Trisomy 1Q
Anophthalmia, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, C... ORPHA:261344
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly OMIM:619879
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Low-set ears, Aniridia, Hypoplastic female ... OMIM:612469
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas, Osteoporosis, Rickets OMIM:560000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... ORPHA:83461
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Inferior cerebellar vermis hypoplasia, Retinal coloboma OMIM:618571
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Prominent metopic ridge, Congenital hip dislocation, Retinal dystrophy, Hypoplasia of the pons, A... OMIM:619512
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... ORPHA:251937
Pycnodysostosis
Joint laxity, Increased bone mineral density, Persistent open anterior fontanelle, Decreased resp... ORPHA:763
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Low-set ears, Aniridia, Iris coloboma, Hearing impairment ORPHA:251038
Potocki-Shaffer Syndrome
Wormian bones OMIM:601224
Joubert Syndrome 23
Coloboma, Cerebellar dysplasia OMIM:616490
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Incomplete partition of the cochlea type II OMIM:617660
Nephronophthisis 18
Hydrocephalus, Retinitis OMIM:615862
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Prominent metopic ridge, Multiple joint contractures, Camp... ORPHA:468631
Refsum Disease
Splenomegaly, Abnormality of retinal pigmentation, Microphthalmia, Retinopathy ORPHA:773
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Depressed nasal ridge ORPHA:1861
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Prolidase Deficiency
Abnormality of retinal pigmentation, Splenomegaly, Genu valgum, Reduced bone mineral density, Whi... ORPHA:742
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia, Bone marrow hypocellularity OMIM:609054
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Ventriculomegaly, Optic atrophy, Hypoplasia of the iris, Hypoplasia of the br... OMIM:251300
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... ORPHA:171929
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... OMIM:612109
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus, Camptodactyly, Dandy-Walk... ORPHA:459061
Transketolase Deficiency
Patent ductus arteriosus, Cataract, Conjunctivitis, Hearing impairment ORPHA:488618
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Large fontanelles, Pigmentary retinopath... OMIM:214110
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Cataract, Sensorineural hearing impairment, Ante... OMIM:308940
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Retinal co... OMIM:616546
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... OMIM:231070
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cerebellar hypoplasia, Microcytic anemia OMIM:618805
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Large fontanelles, Hip dislocation, Wormian bon... OMIM:219150
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple, Patchy atrophy of the retinal pigment ... ORPHA:1433
Hurler Syndrome
Joint stiffness, Splenomegaly, Hydrocephalus, Flexion contracture, Cranial hyperostosis, Hepatosp... OMIM:607014
B4Galt1-Cdg
Splenomegaly, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:79332
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Retinal detachment, Iris coloboma, Macular coloboma OMIM:615145
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Neurodegeneration, Cerebral atrophy, Dystonia ORPHA:309246
Lateral Meningocele Syndrome
Vertebral fusion, Cryptorchidism, Hydrocephalus, Meningocele, Patent ductus arteriosus, Chiari ty... OMIM:130720
Werner Syndrome
Abnormality of retinal pigmentation, Increased bone mineral density, Joint stiffness, Osteoporosi... ORPHA:902
Gaucher Disease
Osteopenia, Joint dislocation, Osteoarthritis, Abnormality of skin pigmentation, Cherry red spot ... ORPHA:355
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Wormian bones, Joint... OMIM:617821
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Microphakia ORPHA:171844
1Q44 Microdeletion Syndrome
Prominent metopic ridge, Optic disc hypoplasia, Hydrocephalus, Ventriculomegaly ORPHA:238769
Apert Syndrome
Ventriculomegaly, Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Cryptorchi... OMIM:101200
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Genu varum, Genu valgum, Sparse bone trabeculae, Genera... OMIM:600785
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cataract, Posteriorly rotated ears, Small scrotum, Cryptorchidism, Cerebral atrophy, Microtia, Lo... OMIM:601353
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Ventric... ORPHA:1860
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Posterior subcapsular cataract, Cataract, Optic atrophy OMIM:300578
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Patent ductus arteriosus, Limitation of joint mobility, Camptodactyly of finger ORPHA:2547
Felty Syndrome
Generalized hyperpigmentation, Splenomegaly, Abnormal joint morphology, Limitation of joint mobil... ORPHA:47612
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Trichothiodystrophy
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Ventr... ORPHA:33364
Bardet-Biedl Syndrome 1
Decreased testicular size, Cataract, Aganglionic megacolon, Astigmatism, Hypogonadism, Vaginal at... OMIM:209900
Pycnodysostosis
Wormian bones, Increased bone mineral density, Osteolytic defects of the distal phalanges of the ... OMIM:265800
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Congenital hip dislocation OMIM:614450
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Pyloric stenosis ORPHA:1571
Incontinentia Pigmenti
Retinal detachment, Abnormal chorioretinal morphology, Camptodactyly of finger, Eosinophilia, Sup... ORPHA:464
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism, Cerebellar vermis hypoplasia, Joint hypermobility OMIM:618494
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Delayed epiphyseal ossification, Large fontanelles, Flat acetabular roof OMIM:613320
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis OMIM:618699
Kapur-Toriello Syndrome
Microphthalmia, Patent ductus arteriosus, Retinal coloboma, Iris coloboma ORPHA:2328
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Cryptorchidism, Meningocele, Joint hyperflexi... ORPHA:2789
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Large fontanelles, Osteopetrosis, Facial hyperostosis, Delayed cr... ORPHA:2780
Joubert Syndrome 21
Encephalocele, Occipital encephalocele OMIM:615636
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... ORPHA:79330
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Recurrent fractures, Joint hypermobility, Craniosynostosis, Abnormally large globe, H... OMIM:245600
Microcephaly-Micromelia Syndrome
Craniosynostosis, Aqueductal stenosis, Humeroradial synostosis, Neonatal death, Microphthalmia OMIM:251230
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus, Neonatal epiphyseal stippling, Optic atrophy, Blue irides, Melanoc... OMIM:101800
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Joint stiffness, Delayed closure of the anterior fo... OMIM:614008
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Flexion contracture, Optic atrophy, Macular hypoplasia, Holoprosen... OMIM:147791
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Pfeiffer Syndrome
Hydrocephalus, Humeroradial synostosis, Chiari malformation, Coronal craniosynostosis, Elbow anky... OMIM:101600
Cranioectodermal Dysplasia 4
Bone marrow hypocellularity, Rod-cone dystrophy, Joint hypermobility, Sagittal craniosynostosis OMIM:614378
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple ORPHA:1173
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity, Arthritis ORPHA:320365
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Knee flexion contracture ORPHA:3208
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hydrocephalus, Optic atrophy, Hepatosplenomegaly, Yellow/white lesions o... ORPHA:93400
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus OMIM:187600
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Limitation of joint mobility, Osteolysis, Large fontanelles, Osteolytic defe... ORPHA:90153
Monosomy 18Q
Abnormal retinal morphology, Bilateral cryptorchidism, Secondary growth hormone deficiency, Hydro... ORPHA:1600
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Genu recurvatum, Craniosynostosis, Wide anterior fontanel, Hydrocephalu... OMIM:182212
Tenorio Syndrome
Osteopenia, Joint laxity, Ventriculomegaly, Hydrocephalus, Delayed cranial suture closure OMIM:616260
Antley-Bixler Syndrome
Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Elbow ankylosis,... ORPHA:83
Developmental And Epileptic Encephalopathy 49
Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Optic atrophy, Dandy-Walker malformati... OMIM:617281
Seckel Syndrome 2
Few cafe-au-lait spots, Microphthalmia, Cerebellar hypoplasia OMIM:606744
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Osteoporosis, Premature graying of ... OMIM:613989
Linear Nevus Sebaceus Syndrome
Genu recurvatum, Melanocytic nevus, Adenoma sebaceum, Aplasia/Hypoplasia of the cerebellum, Micro... ORPHA:2612
Phace Association
Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Increased retinal vascularity, C... OMIM:606519
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri... ORPHA:447788
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Joint stiffness, Elbow dislocation, Patellar dislocation, Di... ORPHA:1824
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Premature graying of hair... OMIM:614742
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel OMIM:601356
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Increased bone mineral density, Delayed closure of the anterior ... OMIM:127000
Emanuel Syndrome
Ventriculomegaly, Congenital hip dislocation, Multiple joint contractures, Cryptorchidism, Hydroc... ORPHA:96170
Adams-Oliver Syndrome 1
Encephalocele, Cleft palate, Cleft upper lip OMIM:100300
Pantothenate Kinase-Associated Neurodegeneration
Osteopenia, Bull's eye maculopathy, Acanthocytosis, Fractures of the long bones, Optic atrophy, P... ORPHA:157850
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Increased susceptibility to fractures ORPHA:216866
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Retinal dystrophy, Aplastic ane... OMIM:617052
Sandestig-Stefanova Syndrome
Microphthalmia, Prominent metopic ridge, Ventriculomegaly, Camptodactyly OMIM:618804
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Aplasia/Hypoplasia of the cerebellum, Aplasia/H... ORPHA:1926
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of the wrist, Large fontanelles, Delayed cranial suture closure ORPHA:2511
Emanuel Syndrome
Ventriculomegaly, Congenital hip dislocation, Cryptorchidism, Hydrocephalus, Patent ductus arteri... OMIM:609029
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... OMIM:600081
Hallermann-Streiff Syndrome
Wormian bones, Spina bifida, Cryptorchidism, Optic disc coloboma, Decreased number of sternal oss... OMIM:234100
Craniopharyngioma
Papilledema, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hydrocephalus, Optic a... ORPHA:54595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Chops Syndrome
Cataract, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, Thickened helices, Hearing imp... OMIM:616368
Melnick-Needles Syndrome
Craniofacial hyperostosis, Hip dislocation, Osteolytic defects of the phalanges of the hand, Join... ORPHA:2484
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Wide anterior fontanel, Cryptorchidism, Patent ductus arteri... OMIM:214100
Cdags Syndrome
Sagittal craniosynostosis, Large fontanelles, Lambdoidal craniosynostosis, Coronal craniosynostos... OMIM:603116
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Ventriculomegaly OMIM:308350
Familial Thyroid Dyshormonogenesis
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Delayed cranial sut... ORPHA:95716
Chromosome 6Q24-Q25 Deletion Syndrome
Anteverted nares, Patent ductus arteriosus, Hydrocephalus, Lateral ventricle dilatation, Agenesis... OMIM:612863
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Neutropenia, Spinal dysraphis... ORPHA:175
Usher Syndrome
Abnormal vestibular function, Cataract, Sensorineural hearing impairment, Vestibular areflexia, A... ORPHA:886
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Cataract, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, ... ORPHA:314404
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Flexion contracture, Dandy-Walker malformation OMIM:310400
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Tetrasomy 15Q26
Patent ductus arteriosus, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Mosaic Trisomy 9
Ventriculomegaly, Camptodactyly of finger, Spina bifida, Asplenia, Elbow dislocation, Cryptorchid... ORPHA:99776
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Flexion contracture of finger, Osteomyelitis, Pigmentary... ORPHA:88628
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Abnormal ... ORPHA:3226
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Patent ductus arteriosus, Partial agenesis of the cor... OMIM:602398
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Apert Syndrome
Hydrocephalus, Large fontanelles, Optic atrophy, Cervical C5/C6 vertebrae fusion, Ovarian neoplas... ORPHA:87
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida ORPHA:991
Hajdu-Cheney Syndrome
Osteopenia, Recurrent fractures, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, Osteoporo... ORPHA:955
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Cerebellar atrophy, Optic disc pallor, Communicating hydrocephalus, Pan... ORPHA:309282
Coccidioidomycosis
Osteomyelitis, Abnormal retinal morphology, Eosinophilia, Abscess, Abnormality of the spleen, Med... ORPHA:228123
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Beare-Stevenson Cutis Gyrata Syndrome
Craniosynostosis, Hydrocephalus, Optic atrophy, Chiari malformation, Limited elbow extension, Ven... OMIM:123790
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Abnormality of retinal pigmentation ORPHA:122
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Cerebral cortical atrophy OMIM:618201
Hyperparathyroidism, Transient Neonatal
Osteopenia, Communicating hydrocephalus, Wide cranial sutures, Hyperparathyroidism, Recurrent fra... OMIM:618188
Holoprosencephaly 7
Flat nasal alae, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus... OMIM:610828
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora, Microti... OMIM:224690
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Lateral ventricle dilatation, Joint contracture of the 4th finger, Joint contractu... OMIM:618914
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Cleft palate ORPHA:306542
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Cryptorchidism, Mic... OMIM:241410
Trisomy 17P
Wide nose, Prominent nose, Patent ductus arteriosus, Hydrocephalus, Thick nasal alae ORPHA:261290
Moebius Syndrome
Hypoplasia of the brainstem, Camptodactyly, Microphthalmia, Arthrogryposis multiplex congenita, D... OMIM:157900
Distal Triplication 15Q
Craniosynostosis, Hydrocephalus, Flexion contracture, Patent ductus arteriosus, Hydrocele testis,... ORPHA:314588
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Cryptorchidism, Hydrocephalus, Optic atrophy, Melanocytic nevus ORPHA:1555
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Joint hypermobility, Supernumerary nipple, Cryptorchidism, Hydrocephalus... OMIM:619951
Bosma Arhinia Microphthalmia Syndrome
Cataract, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Absent tragus, Hypospadias, C... OMIM:603457
Japanese Encephalitis
Stiff neck, Genu recurvatum, Neutrophilia, Abnormal substantia nigra morphology, Abnormal midbrai... ORPHA:79139
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... OMIM:241530
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis, Poorly formed metencephalon, Aprosencephaly, Retinal dysplasia, Absent mesencep... OMIM:601374
Leigh Syndrome
Cerebellar atrophy, Multiple joint contractures, Abnormal brainstem MRI signal intensity, Focal T... ORPHA:506
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Anis... ORPHA:263479
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... ORPHA:75564
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Wide anterior fontanel, Prominent metopic ridge OMIM:614541
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal cerebellum morphology, Epire... ORPHA:637
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Osteoporosis, Reticular hyperpigmentation, Hepatic necrosis, P... OMIM:127550
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Genu recurvatum, Retinopathy ORPHA:578
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy, Hip contracture, Severe generalized osteoporosis, Optic atrophy, Knee flexion... OMIM:210730
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, De... OMIM:616007
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... OMIM:309801
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis OMIM:244400
Plasminogen Deficiency, Type I
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... OMIM:217090
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
2Q31.1 Microdeletion Syndrome
Prominent metopic ridge, Camptodactyly of finger, Cryptorchidism, Optic disc coloboma, Coloboma, ... ORPHA:251014
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Osteoporosis, ... OMIM:102500
Focal Dermal Hypoplasia
Camptodactyly of finger, Spina bifida, Patent ductus arteriosus, Hypoplasia of the iris, Abnormal... ORPHA:2092
Cryptococcosis
Osteomyelitis, Lymphoid leukemia, Abnormal retinal morphology, Mediastinal lymphadenopathy, Hydro... ORPHA:1546
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Wormian bones, Persistent... ORPHA:1798
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Communicating hydrocephalus, Craniosynostosis ORPHA:1064
Aymé-Gripp Syndrome
Prominent metopic ridge, Ventriculomegaly, Craniosynostosis, Cryptorchidism, Hydrocephalus, Limit... ORPHA:1272
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal mo... ORPHA:580
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Fused cervical vertebrae, Shoulder dislocation, Retinal coloboma, Micropht... OMIM:607323
Congenital Myopathy 22A, Classic
Hip contracture, Achilles tendon contracture, Knee contracture, Osteoporosis, Normal pressure hyd... OMIM:620351
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phal... OMIM:608612
Mirage Syndrome
Radial club hand, Hydrocephalus, Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Leuk... OMIM:617053
Oculo-Palato-Cerebral Syndrome
Cataract, Remnants of the hyaloid vascular system, Leukocoria, Thickened helices, Frontal cortica... ORPHA:2714
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Hydrocephalus, Short nose, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Sensorineural hearing impairment, Keratoconjunctivitis sicca, Conjunctivitis... OMIM:278730
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Epiphyseal stippling, Stippled calcification in carpal bones, Patellar dislocat... OMIM:302960
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... OMIM:264700
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hip dislocation, ... ORPHA:3412
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... OMIM:277440
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, V... OMIM:612530
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Vaginal neoplasm, Keratitis, Sensorineural hearing impairment, Anterior lenticonus, Abn... ORPHA:1018
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Achondroplasia
Hip joint hypermobility, Wide anterior fontanel, Hydrocephalus, Flat acetabular roof, Knee joint ... ORPHA:15
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Chorioretinal coloboma, Tracheomalacia, Microphthalmia, Iris coloboma ORPHA:268249
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Abnormal cerebellum morphology, Abnormal thalamic MRI si... ORPHA:83597
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Hydrocephalus, Humeroradial synostosis, Flexion contracture, Lambdoidal c... OMIM:207410
Laurin-Sandrow Syndrome
Underdeveloped nasal alae, Prominent nose, Abnormality of the nose, Hydrocephalus, Depressed nasa... ORPHA:2378
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Flexion contracture, Neonatal epiphyseal stippling, Anterior rib p... ORPHA:35173
Lowry-Wood Syndrome
Multiple joint dislocation, Elbow flexion contracture, Hip dislocation, Pigmentary retinopathy, S... OMIM:226960
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hem... OMIM:618325
Arachnoiditis
Hydrocephalus ORPHA:137817
Fraser Syndrome 3
Wide nose, Hydrocephalus, Stillbirth, Convex nasal ridge OMIM:617667
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Joint stiffness, Flexion contracture, Elbow flexion contracture, Progressive clavicul... OMIM:248370
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Adrenal hyperplasia, Flexion contracture, Abnormal ovarian morphology, Abnormality of the wrist, ... ORPHA:95699
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Ventriculomegaly, Joint stiffness, Splenomegaly, Hydrocephalus, Flexio... ORPHA:581
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Spina bifida, Generalized joint laxity, Hip dislocation, Fused cervical v... ORPHA:508498
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Ventriculomegaly, Generalized hyperpigmentation, Thrombocytopenia,... ORPHA:3322
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Cerebellar hypoplasia OMIM:617914
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epithelial necrosis, ... ORPHA:157
Sifrim-Hitz-Weiss Syndrome
Cryptorchidism, Patent ductus arteriosus, Flat acetabular roof, Fused cervical vertebrae, Chiari ... OMIM:617159
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cryptorchidism, Patent ductus arteriosus, O... OMIM:616975
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Recurrent fractures, Joint st... ORPHA:636
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Ventriculomegaly, Optic nerve hypoplasia, Olivopontocerebellar hypoplasi... ORPHA:457284
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Thrombocytopenia, Flexion contracture, Optic atrophy, Patent ductus arteriosus, Leu... OMIM:617303
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Flexion contracture, Optic atrophy, Leu... OMIM:619321
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Cataract, Anisocoria OMIM:619649
Osteogenesis Imperfecta, Type Vii
Osteopenia, Wide cranial sutures, Recurrent fractures, Protrusio acetabuli, Multiple prenatal fra... OMIM:610682
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypop... OMIM:613001
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Camptodactyly of finger, Elbow flexion contracture, Small anterior ... ORPHA:1692
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
De Barsy Syndrome
Osteopenia, Cerebellar vermis hypoplasia, Congenital hip dislocation, Delayed closure of the ante... ORPHA:2962
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pter... OMIM:619339
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Joint hypermobility, Cranios... ORPHA:314585
Asparagine Synthetase Deficiency
Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst sup... OMIM:615574
Mucopolysaccharidosis Type 1
Joint dislocation, Joint stiffness, Splenomegaly, Hydrocephalus, Optic atrophy, Retinopathy ORPHA:579
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, Abnor... ORPHA:138
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Myelomeningocele, Hydrocephalus, Chiari type II malformation, ... OMIM:613686
Monosomy 18P
Microphthalmia, Holoprosencephaly ORPHA:1598
Congenital Fibrosis Of Extraocular Muscles
Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Congenital sensorineural hearing... ORPHA:45358
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Short nose ORPHA:93259
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Primary Ciliary Dyskinesia
Asplenia, Hydrocephalus, Polysplenia, Rod-cone dystrophy, Ventriculomegaly ORPHA:244
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Flat acetabular roof OMIM:617102
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Depressed nasal bridge, Wide nasal bridge OMIM:104350
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Cochlear malformation, Low-set ears, Epididymal ... ORPHA:2044
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Large posterior fontanelle, Ectopic posterior pituitary, Optic nerve hypoplasia, Decreased respon... ORPHA:226307
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Large joint dislo... ORPHA:536467
Steinfeld Syndrome
Absent gallbladder, Retinal coloboma, Holoprosencephaly, Microphthalmia, Iris coloboma OMIM:184705
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Osteolysis, Lymphadenopathy ORPHA:391
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Stiff neck, Abnormal medulla oblongata morphology, Abnormal midbrain morphol... ORPHA:68
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Craniosynostosis, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Abno... ORPHA:96121
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Hydrocephalus, Thrombocytopenia, N... ORPHA:398124
Dural Sinus Malformation
Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Papilledema ORPHA:97339
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Ankle flexion contracture, Cryptorchidism, Patent ductus a... ORPHA:464311
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Retinal dy... OMIM:243910
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta, Pyloric stenosis OMIM:267750
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Tremor, Optic atrophy, Dystonia, Laryngeal dyst... ORPHA:845
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Splenomegaly, Hydrocephalus, Optic nerve dys... OMIM:115150
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Increased CSF protein conc... ORPHA:88619
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Joint stiffness, Optic disc coloboma, Large fontanelles, Retinoschisis, ... ORPHA:2995
Bohring-Opitz Syndrome
Joint dislocation, Prominent metopic ridge, Retinal atrophy, Ulnar deviation of the wrist, Ventri... ORPHA:97297
Tetrasomy 5P
Wide anterior fontanel, Hydrocephalus, Cerebellar hypoplasia, Depigmentation/hyperpigmentation of... ORPHA:3309
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Neurodegeneration, Cerebral atrophy, Dystonia OMIM:272750
Endocrine-Cerebroosteodysplasia
Focal polymicrogyria, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Holoprosencephaly, A... OMIM:612651
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Joint hyperflexibility, Microphthalmia, ... ORPHA:250989
Hurler Syndrome
Camptodactyly of finger, Splenomegaly, Hydrocephalus, Abnormality of the elbow, Limitation of joi... ORPHA:93473
H Syndrome
Recurrent fractures, Microcytic anemia, Hydrocephalus, Osteolysis, Lymphadenopathy, Hepatosplenom... ORPHA:168569
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epithelial necrosis, ... ORPHA:228308
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... OMIM:616084
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... OMIM:231095
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Coloboma OMIM:167730
Fanconi Anemia, Complementation Group F
Hyperpigmentation of the skin, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:603467
3P25.3 Microdeletion Syndrome
Microphthalmia, Patent ductus arteriosus, Abnormal thalamus morphology, Knee flexion contracture ORPHA:435638
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Retinal telangiectasia, Thrombocytopenia, Osteoporosis, Optic atrophy, Increased susc... OMIM:612199
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Alstrom Syndrome
Cone/cone-rod dystrophy, Decreased response to growth hormone stimulation test, Multinodular goit... OMIM:203800
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Recurrent fractures, Joint stiffness, Os... ORPHA:394
Marshall-Smith Syndrome
Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Craniosynostosi... OMIM:602535
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
Pgm3-Cdg
Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor... ORPHA:443811
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Hydrocephalus, Thrombocytopenia, Patent ductus arteriosus, Reticulo... OMIM:227646
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Megaloblastic anemia, Thrombocytopenia, Hydrocephalus, Optic atrophy, Pigmentar... ORPHA:79282
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir... ORPHA:91350
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Short nose, Dandy-Walker malf... OMIM:257300
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Retinal calcification, Cortical thickening of long bone di... ORPHA:93325
Cockayne Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... ORPHA:191
White-Sutton Syndrome
Joint laxity, Optic nerve hypoplasia, Patent ductus arteriosus, Wormian bones, Rod-cone dystrophy... OMIM:616364
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Spina bifida, Hydrocephalus, Irregular ossification of hand bo... OMIM:109400
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling, Rickets OMIM:219900
Shprintzen-Goldberg Syndrome
Osteopenia, Communicating hydrocephalus, Camptodactyly of finger, Craniosynostosis, Joint stiffne... ORPHA:2462
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bon... OMIM:301078
Acro-Renal-Ocular Syndrome
Vertebral fusion, Optic disc hypoplasia, Radial club hand, Optic disc coloboma, Coloboma, Chorior... ORPHA:959
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Delayed ossification of carpal bones, Abnormally large globe OMIM:239300
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma, Abnormal bone ossification ORPHA:2563
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Retinal vascular malformation, Cerebellar hypoplasia, Ecto... ORPHA:42775
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Hydrocephalus, Reduced bone mineral density,... ORPHA:667
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Legius Syndrome
Cataract, Ovarian neoplasm, Vestibular schwannoma, Male urethral meatus stenosis, Lisch nodules, ... ORPHA:137605
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Mosaic Variegated Aneuploidy Syndrome
Ventriculomegaly, Osteolysis, Multiple cafe-au-lait spots, Acute lymphoblastic leukemia, Abnormal... ORPHA:1052
Martsolf Syndrome 1
Joint laxity, Enlarged sylvian cistern, Cryptorchidism, Finger joint hypermobility, Tracheomalaci... OMIM:212720
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Hydrocephalus, Depressed nasal bridge OMIM:616482
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Whipple Disease
Generalized hyperpigmentation, Splenomegaly, Hydrocephalus, Mediastinal lymphadenopathy, Arthriti... ORPHA:3452
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocephalus, Wide nasal bridge, Short columella, Short nose, Ventriculom... OMIM:613603
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Meningioma
Papilledema, Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of t... ORPHA:2495
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Cryptorchidism, Radial... OMIM:146510
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Synostosis of carpal bones ORPHA:3191
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Cerebellar hypoplasia, Chorior... OMIM:157170
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Craniosynostosis, Cr... OMIM:620005
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Wide nasal bridge OMIM:601499
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Bilateral cryptorchidism, Neutropenia, Microphthalmia, Lymphopenia OMIM:616395
D-Bifunctional Protein Deficiency
Osteopenia, Cerebellar atrophy, Ventriculomegaly, Splenomegaly, Large fontanelles, Bile duct prol... OMIM:261515
Dubowitz Syndrome
Hypoparathyroidism, Craniosynostosis, Abnormality of neutrophils, Wide anterior fontanel, Hydroce... ORPHA:235
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Capitate-hamate fusion, 4-5 metacarpal synostosis, Hip d... OMIM:206920
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Cryptorchidism, Coloboma, Cerebellar hypoplasia, Lambdoidal cran... OMIM:607932
Coffin-Siris Syndrome 6
Wormian bones OMIM:617808
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Hip dislocation, Camptodactyly, Microphthalmia, Ventriculomegaly OMIM:617729
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea, Patent ductus arteriosus, Hearing impairment OMIM:619869
Sympathetic Ophthalmia
Papilledema, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Corne... ORPHA:79098
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Lateral ventricular asymmetry, Craniosynostosis, Hydroce... OMIM:616914
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Supernumerary nipple, Retinal vascular... OMIM:308300
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... OMIM:300554
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Wide cranial sutures, Wide anterior fontanel, Radial head subluxation, ... OMIM:601390
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Hypopituitarism ORPHA:90065
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing... ORPHA:79255
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Abnormality of retinal pigmentation, Joint contracture of the hand, Congenita... ORPHA:466768
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria ORPHA:65285
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Retinal nonattachment, Buphthalmos, Micr... OMIM:221900
Poland Syndrome
Encephalocele, Spina bifida occulta ORPHA:2911
Cole-Carpenter Syndrome
Wormian bones, Joint hyperflexibility, Recurrent fractures ORPHA:2050
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Phthisis bulbi, Osteoporosis, Increased susceptibility to fractu... OMIM:259770
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Splenomegaly, Flexion contracture, Retinal... ORPHA:90324
Microphthalmia With Limb Anomalies
Tarsal synostosis, Elbow dislocation, Cryptorchidism, Hydrocephalus, Optic atrophy, Hip dislocati... ORPHA:1106
Marbach-Rustad Progeroid Syndrome
Wormian bones, Reduced bone mineral density OMIM:619322
Baller-Gerold Syndrome
Carpal bone aplasia, Optic nerve hypoplasia, Limited elbow movement, Sagittal craniosynostosis, C... OMIM:218600
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Limb joint contracture, Pigmentary retinopathy OMIM:617282
Hennekam-Beemer Syndrome
Generalized hyperpigmentation, Camptodactyly of finger, Delayed cranial suture closure, Optic atr... ORPHA:2135
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Pigmentary retinopathy, Microphthalmia, Camptodactyly OMIM:614230
Kearns-Sayre Syndrome
Hypoparathyroidism, Pigmentary retinopathy, Sideroblastic anemia, Increased CSF protein concentra... OMIM:530000
Proteus Syndrome
Central heterochromia, Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of t... ORPHA:744
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation OMIM:618056
Fanconi Anemia, Complementation Group C
Pancytopenia, Hyperpigmentation of the skin, Cryptorchidism, Thrombocytopenia, Flexion contractur... OMIM:227645
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cryptorchidism, Hydrocephalus, Cranial hyperostosis, Limitation o... ORPHA:2658
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Cerebellar hypoplasia, Leukopenia, Decreased circulating antibody level OMIM:615190
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Hy... ORPHA:2556
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Achondroplasia
Limited hip extension, Generalized joint laxity, Hydrocephalus, Brain stem compression, Limited e... OMIM:100800
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Joint dislocation, Ventriculomegaly, Fair hair, Decreased response to growth hormon... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Joint dislocation, Ventriculomegaly, Fair hair, Decreased response to growth hormon... ORPHA:363958
Fanconi Anemia, Complementation Group L
Hydrocephalus, Bone marrow hypocellularity, Cerebellar hypoplasia, Microphthalmia, Cafe-au-lait s... OMIM:614083
Raine Syndrome
Increased bone mineral density, Hydrocephalus, Large fontanelles, Subperiosteal bone formation, N... OMIM:259775
Cleidocranial Dysplasia
Recurrent fractures, Large fontanelles, Osteoporosis, Genu valgum, Wormian bones, Decreased skull... ORPHA:1452
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Flexion contracture, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Lessel-Kreienkamp Syndrome
Wide cranial sutures OMIM:619149
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism, Abnormal thalamus morphology ORPHA:404440
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Recurrent fractures, Osteomalacia,... ORPHA:562
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Genitopalatocardiac Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:2075
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Hydrocephalus, Pigmentary retinopathy, Neutropenia, Thrombocytopenia OMIM:277400
Mandibuloacral Dysplasia
Contractures of the large joints, Acroosteolysis of distal phalanges (feet), Osteolytic defects o... ORPHA:2457
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Cataract, Posteriorly rotated ears, Hypospadias, Astigmatism, Brain atrophy, L... OMIM:619268
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Hydrocephalus, Craniofacial osteosclerosis, Large fon... OMIM:300373
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Leukemia, ... OMIM:614743
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Impaired T cell function, Spina bifida, Retinal arteriolar tortuosity, Spleno... ORPHA:567
Cousin Syndrome
Hydrocephalus, Humeroradial synostosis, Microphthalmia, Camptodactyly, Hydranencephaly, Dislocati... OMIM:260660
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Hec Syndrome
Abnormal retinal vascular morphology, Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Patent ductus arteriosus, Anemia, Vitreous hemorrhage, M... OMIM:620185
Chromosome 17P13.1 Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Spina bifida, Prominent nasal bridge, Hydrocephalus, Bu... OMIM:613776
Amed Syndrome, Digenic
Acute myeloid leukemia, Hyperpigmentation of the skin, Anemia, Leukopenia, Bone marrow hypocellul... OMIM:619151
Hallermann-Streiff Syndrome
Recurrent fractures, Cryptorchidism, Abnormality of the fontanelles or cranial sutures, Reduced b... ORPHA:2108
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Cerebellar vermis atrophy, Hypoplastic nipples, Dandy-Walker malformation OMIM:156610
Ethylmalonic Encephalopathy
Retinal vascular tortuosity, Abnormal brainstem MRI signal intensity ORPHA:51188
Progeroid Short Stature With Pigmented Nevi
Cataract, Hypospadias, Sensorineural hearing impairment, Allergic conjunctivitis, Chordee, High-f... OMIM:176690
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Cryptorchidism, Patent... OMIM:300166
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Abnormality of the spleen, Hydrocephalus ORPHA:1834
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... OMIM:131300
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Mucopolysaccharidosis, Type Vii
Joint stiffness, Splenomegaly, Hydrocephalus, Flexion contracture, Limitation of joint mobility, ... OMIM:253220
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Esophageal atresia, Tracheoesophageal fistula, Patent urac... OMIM:192350
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Cryptorchidism, Irregular hyperpigmentation, Retinopathy ORPHA:2505
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Hip dislocation, Holoprosencephaly, Chorioretinal coloboma,... OMIM:613884
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Spina bifida, Thrombocytopenia, Hydrocephalus, Crypto... ORPHA:84
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Cryptorchidism, Acute lymphoblastic leukemia, H... OMIM:223370
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Gapo Syndrome
Ventriculomegaly, Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Ret... OMIM:230740
Osteogenesis Imperfecta
Osteopenia, Osteoarthritis, Flexion contracture, Brain stem compression, Decreased skull ossifica... ORPHA:666
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
X-Linked Intellectual Disability, Armfield Type
Cataract, Cryptorchidism, Patent ductus arteriosus, Long ear, Macrotia, Cerebral cortical atrophy ORPHA:85276
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Arthrogryposis-like hand anomaly, Bilateral microphthalmos, Camptodactyly ORPHA:369891
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Joint dislocation, Aplastic anemia, Hyperpigment... ORPHA:221016
Thakker-Donnai Syndrome
Communicating hydrocephalus, Bulbous nose, Anteverted nares, Agenesis of corpus callosum ORPHA:1780
Blau Syndrome
Cataract, Band keratopathy, Abnormality of the ear, Iritis, Abnormal cranial nerve morphology OMIM:186580
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural... OMIM:620133
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy, Anemia, Increased CSF lactate ORPHA:436271
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Focal Dermal Hypoplasia
Joint laxity, Linear hyperpigmentation, Congenital hip dislocation, Anophthalmia, Supernumerary n... OMIM:305600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Cerebral cor... OMIM:617527
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Optic atrophy, Abnormal thalamic MRI signal intensity ORPHA:254930
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Joint laxity, Microphthalmia, Joint contracture of the 5th finger, Supernumerary nipple OMIM:620098
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Scalp-Ear-Nipple Syndrome
Cataract, Underdeveloped antitragus, Abnormal antihelix morphology, Microtia, Breast aplasia, Sma... ORPHA:2036
Glutaryl-Coa Dehydrogenase Deficiency
Joint dislocation, Communicating hydrocephalus, Retinal hemorrhage, Subependymal nodules, Ventric... ORPHA:25
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Brain stem compre... OMIM:602080
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cerebral cortical atrophy ORPHA:309155
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Patent ductus arteriosus, Optic disc coloboma, Holoprosence... ORPHA:141099
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Osteootohepatoenteric Syndrome
Hydrocephalus, Recurrent fractures, Anemia, Reduced bone mineral density OMIM:619377
Histiocytoid Cardiomyopathy
Hydrocephalus, Optic atrophy, Polycystic ovaries, Cerebellar malformation, Microphthalmia, Congen... ORPHA:137675
Abetalipoproteinemia
Osteopenia, Abnormality of retinal pigmentation, Reticulocytosis, Acanthocytosis, Anemia, Rod-con... ORPHA:14
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge ORPHA:2268
Dent Disease 1
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... OMIM:300009
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Medulloblastoma
Hydrocephalus, Cerebellar calcifications, Delayed cranial suture closure, Cerebellar cyst ORPHA:616
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hypocellularit... ORPHA:88
Schimke Immuno-Osseous Dysplasia
Hypermelanotic macule, Impaired T cell function, Thrombocytopenia, Decreased proportion of naive ... ORPHA:1830
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Reticular hyperpigmentation, Decreased circulating antibody level, Premature grayin... OMIM:619767
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Silver-Russell Syndrome 1
Testicular seminoma, Cafe-au-lait spot, Decreased response to growth hormone stimulation test, De... OMIM:180860
Adult-Onset Still Disease
Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Arthritis, Joint swelling,... ORPHA:829
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Hyp... ORPHA:444072
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Cafe-au-lait spot, T-cell acute lymphoblastic leukemias, Bone marrow hypo... OMIM:605724
Fibrochondrogenesis 1
Wide anterior fontanel, Widely patent coronal suture, Camptodactyly, Joint contracture of the han... OMIM:228520
Mohr Syndrome
Bifid nasal tip, Hydrocephalus, Depressed nasal bridge, Broad nasal tip OMIM:252100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy, Anemia, Increased CSF lactate OMIM:220110
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Osteoporosis, Reticular hyperpigmen... OMIM:224230
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Aplasia/Hypoplasia of the patel... ORPHA:2909
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Cardiofaciocutaneous Syndrome
Generalized hyperpigmentation, Cryptorchidism, Hydrocephalus, Optic atrophy, Genu valgum, Multipl... ORPHA:1340
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Van Maldergem Syndrome 2
Osteopenia, Joint laxity, Wide cranial sutures, Wide anterior fontanel, Tracheomalacia, Hip sublu... OMIM:615546
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Wrist flexion contracture, Retinal pigment epithelial mottling, Knee flexi... OMIM:618733
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Asplenia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, C... OMIM:240300
Revesz Syndrome
Aplastic anemia, Exudative retinopathy, Bone marrow hypocellularity, Cerebellar hypoplasia, Fine,... OMIM:268130
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Coloboma, Bilateral microphthalmos ORPHA:2399
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Ventriculomegaly, Anterior pituitary hypop... OMIM:151050
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Optic disc pallor, Flexion contracture OMIM:300232
Bone Marrow Failure Syndrome 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:614675
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Cataract, Hypospadias, Rectoperineal fistula, External ear ma... ORPHA:857
Opitz-Kaveggia Syndrome
Multiple joint contractures, Delayed closure of the anterior fontanelle, Wide anterior fontanel, ... OMIM:305450
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Chiari type I malformation, Lateral ventricle dilatation, Dilated third ventricle,... OMIM:619575
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm OMIM:617883
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Increased circulating prolactin concentration OMIM:617675
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia, Cerebellar hypoplasia OMIM:616553
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Absent nipple, Craniosynostosis, Wide anterior fontanel, Hydrocepha... OMIM:612289
Roberts-Sc Phocomelia Syndrome
Cleft upper lip, Hydrocephalus, Frontal encephalocele, Cleft palate, Stillbirth, High palate OMIM:268300
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly OMIM:313850
Alexander Disease
Osteopenia, Hydrocephalus, Aqueductal stenosis, Hyperpigmented nevi ORPHA:58
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Bone marrow hypocellularity, Cerebellar hypoplasia OMIM:616353
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Hyperpigmentation of the skin, ... ORPHA:221008
Frank-Ter Haar Syndrome
Osteopenia, Delayed cranial suture closure, Abnormally large globe, Wide anterior fontanel, Osteo... OMIM:249420
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Cholelithiasis ORPHA:79095
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Retinopathy, Hydrocephalus, Optic atrophy, Numerous pigmented freckles ORPHA:220295
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Limi... ORPHA:79474
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hyperpigmentation of the skin, Reticulated skin pigmentatio... OMIM:305000
Neu-Laxova Syndrome 1
Ventriculomegaly, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Choroid plexus cyst, St... OMIM:256520
Greenberg Dysplasia
Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, Patchy variatio... OMIM:215140
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system OMIM:257910
Tick-Borne Encephalitis
Stiff neck, Abnormal medulla oblongata morphology, Abnormal brainstem MRI signal intensity, CSF p... ORPHA:297
Mend Syndrome
Cryptorchidism, Hydrocephalus, Spotty hypopigmentation, Small anterior fontanelle, Macular hypopl... OMIM:300960
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Large fontanelles, Hip dislocation, ... ORPHA:198
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di... ORPHA:93924
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Prominent metopic ridge, Agenesis of cerebellar vermis, Cerebellar vermis hypopl... OMIM:210710
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Optic atrophy OMIM:234050
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Joint stiffness, Chorioretinal dysplasia,... ORPHA:534
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Delayed cranial suture closure ORPHA:1129
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Low-set ears, Adrenal glan... OMIM:273395
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Holoprosencephaly, Neonatal death OMIM:269860
Bardet-Biedl Syndrome
Pigmentary retinopathy, Hypoplasia of the ovary, Cryptorchidism ORPHA:110
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Tarsal synostosis, Wide anterior fontanel, Coronal craniosynostosis, ... ORPHA:85199
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Optic atrophy, Ventriculomegaly ORPHA:395
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased response to gro... ORPHA:699
Cat Eye Syndrome
Microphthalmia, Patent ductus arteriosus, Iris coloboma, Chorioretinal coloboma OMIM:115470
Osteogenesis Imperfecta, Type Xx
Multiple prenatal fractures, Wormian bones OMIM:618644
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho... ORPHA:217085
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterio... ORPHA:67036
Congenital Fibrinogen Deficiency
Microphthalmia, Splenic rupture, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Arnold-Chiari Malformation Type I
Stiff neck, Myelopathy, Chiari type I malformation, Fused cervical vertebrae, Brain stem compress... ORPHA:268882
Pseudoaminopterin Syndrome
Sagittal craniosynostosis, Limited elbow movement, Asplenia, Cryptorchidism, Hydrocephalus, Patch... ORPHA:221120
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho... ORPHA:217093
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Hydrocephalus, Anteverted nares ORPHA:2306
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Optic atrophy, Lymphadenopathy, Hepatosplenomegaly, Art... OMIM:615688
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Microphthalmia, Dilated third ventricle, Cholelithiasis, Contractur... ORPHA:464738
Orofaciodigital Syndrome I
Abnormal cortical gyration, Underdeveloped nasal alae, Myelomeningocele, Hydrocephalus, Wide nasa... OMIM:311200
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Craniosynostosis, Cryptorchidism, Optic atrophy, Delayed cranial... ORPHA:794
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Abnormality of retinal pigmentation, Block vertebrae, Tarsal synostosis, Capita... OMIM:272460
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Large posterior fontanelle, Absent gallbladder, Wide anterior fontanel, Decreased calvarial ossif... OMIM:617925
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Retinal pigment epithelial mottling, Progressi... OMIM:251260
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary retinopathy, Rod-cone ... ORPHA:96180
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Midline defect of t... OMIM:236680
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Absent gallbladder, Cryptorchidism, Hydrocephalus, Throm... ORPHA:163979
Fetal Alcohol Syndrome
Microphthalmia, Joint stiffness ORPHA:1915
Trisomy 8P
Multiple joint contractures, Cryptorchidism, Hydrocephalus, Metopic suture patent to nasal root, ... ORPHA:264450
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Microphthalmia, Flexion contracture, Freckling OMIM:601675
Neurooculorenal Syndrome
Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydrocephalus, Polymicrogyria, Agen... OMIM:620305
Fetal Akinesia Deformation Sequence 1
Hip contracture, Elbow contracture, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Conge... OMIM:208150
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Retinal atrophy, Recurrent fractures, Abnormal retinal morphology, Thrombocytopenia... ORPHA:2785
3Q29 Microdeletion Syndrome
Microphthalmia, Joint hyperflexibility, Patent ductus arteriosus, Abnormality of skin pigmentation ORPHA:65286
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Melas
Hypoparathyroidism, Optic atrophy, Increased CSF lactate, Pigmentary retinopathy, Increased CSF p... ORPHA:550
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Osteomyelitis, Hydrocephalus, Large fontanelles, Genu valgum, Decreased CSF 5-methy... OMIM:619475
Alg9-Cdg
Cerebellar atrophy, Prominent metopic ridge, Wide anterior fontanel, Hypoplasia of the ovary, Hyp... ORPHA:79328
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Optic disc coloboma, Patent ductus arteri... ORPHA:261337
Hypoplasminogenemia
Cervicitis, Abnormality of the middle ear, Abnormality of the ovary, Abnormal fallopian tube morp... ORPHA:722
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Ventriculomegaly OMIM:616449
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Wide cranial sutures, Large fontanelles OMIM:257850
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Asplenia, Aqueductal stenosis, Myelomeningocele, Hyd... OMIM:306955
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Decreased response to growth hormone stimulation test, Cryptorc... OMIM:214800
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Degcags Syndrome
Osteopenia, Pancytopenia, Hypopigmentation of hair, Craniosynostosis, Congenital hypoplastic anem... OMIM:619488
Campomelic Dysplasia
Joint laxity, Poorly ossified cervical vertebrae, Absent sternal ossification, Spina bifida, Cont... OMIM:114290
Monosomy 13Q14
Microphthalmia, Retinoblastoma, Holoprosencephaly, Iris coloboma ORPHA:1587
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Hip dislocation, Joint hyperflexibility, Coloboma, Ventriculomegaly ORPHA:2322
Fryns Syndrome
Microphthalmia, Cryptorchidism, Ventriculomegaly, Dandy-Walker malformation ORPHA:2059
Mucopolysaccharidosis, Type Vi
Joint stiffness, Splenomegaly, Hydrocephalus, Flexion contracture, Genu valgum, Cervical myelopat... OMIM:253200
Cleidocranial Dysplasia 1
Increased bone mineral density, Persistent open anterior fontanelle, Large fontanelles, Hip dislo... OMIM:119600
Fanconi Anemia, Complementation Group E
Pancytopenia, Hyperpigmentation of the skin, Cryptorchidism, Reticulocytopenia, Anemia, Neutropen... OMIM:600901
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hepatic necrosis ORPHA:71212
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Pigmentary retinopathy ORPHA:746
Costello Syndrome
Hyperextensibility of the finger joints, Hyperpigmentation of the skin, Limited elbow movement, W... OMIM:218040
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Increased CSF lactate OMIM:619053
Diamond-Blackfan Anemia 11
Radioulnar synostosis, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Marden-Walker Syndrome
Camptodactyly of finger, Joint stiffness, Hydrocephalus, Radioulnar synostosis, Cerebellar hypopl... ORPHA:2461
Fanconi Anemia, Complementation Group A
Pancytopenia, Cryptorchidism, Reticulocytopenia, Anemia, Abnormality of skin pigmentation, Neutro... OMIM:227650
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Optic disc hypoplasia, Camptodactyly of finger, Decreased response to growth hormone ... ORPHA:3455
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Splenomegaly, Hydrocephalus, Cryptorchidism, Hip dislocation, Patent ductus a... OMIM:270400
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Pituitary hypothyro... ORPHA:90674
Yunis-Varon Syndrome
Wide cranial sutures, Absent sternal ossification, Cryptorchidism, Hydrocephalus, Bilateral micro... ORPHA:3472
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma, Camptodactyly of finger, Supernumerary nipple ORPHA:1236
Listeriosis
Brain abscess, Stiff neck, Osteomyelitis, Liver abscess, Abscess, Abnormal brainstem MRI signal i... ORPHA:533
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Hemolytic anemia, Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemor... OMIM:175780
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Ogden Syndrome
Cryptorchidism, Ventriculomegaly, Delayed cranial suture closure ORPHA:276432
Craniofacial Microsomia 1
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Wide mouth, Branchial anom... OMIM:164210
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Generalized ... ORPHA:1969
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Anterior pituitary hypoplasia, Delayed cranial suture closure, Reduced circulati... OMIM:613038
Dextrocardia
Pancreatic hypoplasia, Abnormality of the spleen, Hydrocephalus, Congenital hip dislocation ORPHA:1666
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Sple... OMIM:219800
Fryns Syndrome
Ectopic pancreatic tissue, Cryptorchidism, Stillbirth, Polysplenia, Camptodactyly, Microphthalmia... OMIM:229850
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic... ORPHA:2470
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Menkes Disease
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility, Worm... ORPHA:565
Loeys-Dietz Syndrome 1
Joint laxity, Craniosynostosis, Hydrocephalus, Patent ductus arteriosus, Chiari malformation, Cam... OMIM:609192
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:444013
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Optic atrophy OMIM:618727
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Holoprosencephaly, Microphthalmia, Cyclopia, Iris coloboma ORPHA:3186
X-Linked Cerebral Adrenoleukodystrophy
Ankle clonus, Myelopathy, Abnormal brainstem white matter morphology, Hamstring contractures ORPHA:139396
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Cryptorchidism, Osteoporosis, Premature graying of hair, Microphthalm... OMIM:268400
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Prominent nasal bridge, Aqueductal stenosis, Hydrocephalus, Patent ductus ... OMIM:154400
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Splenopancreatic fusion, Metopic suture patent to nasal root, Sc... OMIM:269150
Roberts Syndrome
Progressive flexion contractures, Craniosynostosis, Cryptorchidism, Patellar aplasia, Knee flexio... ORPHA:3103
Pallister-Hall Syndrome
Thyroid hypoplasia, Cryptorchidism, Radial head subluxation, Adrenocorticotropic hormone deficien... ORPHA:672
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Recurrent patellar dislocation, Coloboma, Anophthalmia, Microphthalmia OMIM:615877
Ohdo Syndrome, X-Linked
Microphthalmia, Cryptorchidism, Cafe-au-lait spot, Joint hypermobility OMIM:300895
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... ORPHA:91500
Dyskeratosis Congenita
Neoplasm of the pancreas, Recurrent fractures, Abnormality of neutrophils, Hypermelanotic macule,... ORPHA:1775
Peters-Plus Syndrome
Joint laxity, Bilobate gallbladder, Craniosynostosis, Limited elbow movement, Wide anterior fonta... OMIM:261540
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint laxity, Retinal detachment, Joint dislocation, Ventriculomegaly, Cryptorchidism, Generalize... OMIM:601776
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Rieger anomaly, Cryptorchidism, Hydrocephalus, Hip dislocatio... OMIM:194190
Dent Disease
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... ORPHA:1652
Hunter-Macdonald Syndrome
Premature osteoarthritis, Large fontanelles, Camptodactyly, Cubitus valgus, Joint contracture of ... OMIM:611962
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Anophthalmia, Supernumerary nipple, Cryptorchidism, Elbow flexion ... OMIM:113620
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Cryptorchidism, Hip dislocation, Antecubital pterygium, Patellar hypoplasia, Kn... OMIM:609945
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Rickets ORPHA:411629
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Communicating hydrocephalus, Limitation of joint mobility, Cerebellar hypoplasia, M... ORPHA:457359
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Decreased thalamic volume, Hepatosplen... ORPHA:168577
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Splenomegaly, Abnormality of the spleen, Hydrocephalus, Thrombocytopen... ORPHA:2072
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Lymphangioleiomyomatosis
Retinal hamartoma, Hydrocephalus, Optic atrophy, Lymphadenopathy, Abnormality of skin pigmentation ORPHA:538
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Asplenia, Cryptorchidism, Flexion co... ORPHA:261537
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Wide ante... OMIM:607872
Lowe Oculocerebrorenal Syndrome
Ventriculomegaly, Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Rickets,... OMIM:309000
Loeys-Dietz Syndrome 2
Joint laxity, Protrusio acetabuli, Craniosynostosis, Hydrocephalus, Patent ductus arteriosus, Ost... OMIM:610168
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Remnants of the hyaloid vascula... OMIM:619539
Rubinstein-Taybi Syndrome 1
Joint laxity, Accessory spleen, Delayed cranial suture closure, Spina bifida, Bilateral cryptorch... OMIM:180849
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Delayed closure of the anterior fontanelle, Spina ... OMIM:304120
Hardikar Syndrome
Hypersplenism, Splenomegaly, Patent ductus arteriosus, Osteoporosis, Hepatosplenomegaly, Pigmenta... OMIM:301068
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Bone cyst, Osteoly... ORPHA:3042
Oculodentodigital Dysplasia
Cubitus valgus, Hip dislocation, Joint contracture of the 5th finger, Microphthalmia, Vertebral h... OMIM:164200
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Testicular atrophy, Thr... OMIM:613987
Neurofibromatosis, Type I
Inguinal freckling, Spina bifida, Aqueductal stenosis, Hydrocephalus, Axillary freckling, Genu va... OMIM:162200
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Cerebellar atrophy, Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Optic disc coloboma, Hydrocele testis, ... OMIM:620186
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Patent ductus arteriosus, Bilateral microphthalmos, Multilobulated ... OMIM:601186
Tetrasomy 9P
Joint dislocation, Absent gallbladder, Abnormal chorioretinal morphology, Cryptorchidism, Hydroce... ORPHA:3310
Holoprosencephaly 1
Alobar holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Cyclopia, Ethmocephaly OMIM:236100
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Cafe-au-lait spot, Unilateral microphthalmos, Iris coloboma OMIM:618874
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Lateral ventricle dilatation, Hyperpigmented streaks, Thyroid C cell hyperplasia OMIM:300952
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Flexion contracture ORPHA:258
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Wide anterior fontanel, Hip dislocation, Joint subluxation, Pathologic fracture, De... ORPHA:90349
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Aqueductal stenosis, Splenomegaly, Hydrocephalus, Pate... OMIM:619534
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Increased CSF lactate ORPHA:255210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Asplenia, Cryptorchidism, Patent duc... ORPHA:261552
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Prominent metopic ridge, Cafe-au-lait spot ORPHA:364577
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Anterior pituit... OMIM:619841
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Acetabular dysplasia, Optic atrophy OMIM:201180
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Ulnar deviation of the wrist, Interphalangeal joint contract... ORPHA:96334
8Q24.3 Microdeletion Syndrome
Joint laxity, Ectopic posterior pituitary, Congenital hip dislocation, Optic nerve hypoplasia, Pa... ORPHA:508488
Silver-Russell Syndrome
Cryptorchidism, Cafe-au-lait spot, Decreased testicular size, Delayed cranial suture closure ORPHA:813
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Pineoblastoma, Ret... ORPHA:790
Coffin-Siris Syndrome 12
Joint laxity, Cryptorchidism, Noncommunicating hydrocephalus, Ridged cranial sutures, Radioulnar ... OMIM:619325
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Flexion contracture, Popliteal pterygium, Microphthalmia, Arthrogryposi... OMIM:263650
Rodrigues Blindness
Microphthalmia OMIM:268320
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Retinal hamartoma, Pituitary adenoma, Parathyroid hyperplasia, Nonc... ORPHA:805
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Epistaxis ORPHA:137667
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Delayed cranial suture closure, Delayed closure of the an... OMIM:278250
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Joint stiffness, Flexion contracture, Osteolytic defects of the phalanges of the hand... OMIM:619127
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Recurrent fractures, Asplenia, Crypt... ORPHA:2152
Wiedemann-Rautenstrauch Syndrome
Delayed closure of the anterior fontanelle, Cryptorchidism, Hydrocephalus, Flexion contracture, C... OMIM:264090
Peters Plus Syndrome
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Optic atrophy, Anterior hypopituitarism,... ORPHA:709
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Wormian bones, Delayed cranial suture... ORPHA:90348
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Pancytopenia, Bone marrow hypocellularity OMIM:613988
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Cryptorchidism ORPHA:2728
Wrinkly Skin Syndrome
Osteopenia, Cerebellar vermis hypoplasia, Congenital hip dislocation, Delayed closure of the ante... ORPHA:2834
Myhre Syndrome
Vertebral fusion, Joint stiffness, Cryptorchidism, Patent ductus arteriosus, Limitation of joint ... OMIM:139210
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Hydrocephalus, Bone cyst, Axillary freckling, Genu valgum, Granuloma, Cafe-au... ORPHA:363700
Melnick-Needles Syndrome
Hip dislocation, Osteolytic defects of the phalanges of the hand, Genu valgum, Limited elbow exte... OMIM:309350
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Jacobsen Syndrome
Spina bifida, Cryptorchidism, Thrombocytopenia, Hip dislocation, Bone marrow hypocellularity, Ann... ORPHA:2308
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Wide anterior fontanel, Proximal/middle symphalangism of 5th fing... OMIM:268310
1P36 Deletion Syndrome
Ventriculomegaly, Camptodactyly of finger, Joint stiffness, Abnormality of the spleen, Cryptorchi... ORPHA:1606
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Teebi-Shaltout Syndrome
Microphthalmia, Camptodactyly OMIM:272950
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Iris coloboma ORPHA:2250
Ogden Syndrome
Large posterior fontanelle, Prominent metopic ridge, Congenital hip dislocation, Ventriculomegaly... OMIM:300855
Renpenning Syndrome 1
Coloboma, Camptodactyly, Microphthalmia, Synostosis of the proximal phalanx of the thumb with the... OMIM:309500
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Increased circulating gonadotropin level OMIM:110100
Ramon Syndrome
Optic disc pallor, Juvenile rheumatoid arthritis, Pigmentary retinopathy OMIM:266270
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... ORPHA:285
Turner Syndrome Due To Structural X Chromosome Anomalies
External ear malformation, Increased circulating gonadotropin level, Neck pterygia, Gonadoblastom... ORPHA:99413
Mosaic Monosomy X
External ear malformation, Increased circulating gonadotropin level, Neck pterygia, Gonadoblastom... ORPHA:99228
Monosomy X
External ear malformation, Increased circulating gonadotropin level, Neck pterygia, Gonadoblastom... ORPHA:99226
Turner Syndrome
External ear malformation, Increased circulating gonadotropin level, Neck pterygia, Gonadoblastom... ORPHA:881
Ayme-Gripp Syndrome
Chiari type I malformation, Radioulnar synostosis, Delayed cranial suture closure, Camptodactyly OMIM:601088
Neurodegeneration With Brain Iron Accumulation 1
Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal degeneration, Hyperpigmentation of... OMIM:234200
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Abnormality of the spleen, Anophthalmia, Microphthalmia ORPHA:2538
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Cubitus valgus, Microphthalmia OMIM:601552
Mowat-Wilson Syndrome
Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Chorioretinal coloboma, Microphth... OMIM:235730
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Supernumerary nipple, Splenomegaly, Hydrocephalus, Cryptorchidism, ... OMIM:312870
Kabuki Syndrome 1
Joint dislocation, Hemolytic anemia, Congenital hip dislocation, Autoimmune thrombocytopenia, Cry... OMIM:147920
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Thrombocytopenia, Reticulocytopenia, Persistenc... OMIM:105650
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Joint laxity, Prominent metopic ridge, Patent ductus arteriosus, Camptodactyly, Microphthalmia, J... OMIM:612474
Townes-Brocks Syndrome 1
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Chorioretinal coloboma, Metatarsal synostosis OMIM:107480
Monosomy 9P
Microphthalmia, Cryptorchidism, Limitation of joint mobility ORPHA:261112
Lymphedema-Distichiasis Syndrome
Microphthalmia, Patent ductus arteriosus OMIM:153400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, T... ORPHA:444077
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Witteveen-Kolk Syndrome
Joint laxity, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, C... OMIM:613406
Oeis Complex
Congenital hip dislocation, Cryptorchidism, Myelomeningocele, Hydrocephalus, Chiari malformation OMIM:258040
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari... ORPHA:573278
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Prominent metopic ridge, Cafe-au-lait spot OMIM:608670
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus OMIM:617666
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Saethre-Chotzen Syndrome
Coronal craniosynostosis, Radioulnar synostosis, Delayed cranial suture closure, Lambdoidal crani... OMIM:101400
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Cryptorchidism, Ventriculomegaly OMIM:616734
Microphthalmia, Syndromic 1
Anophthalmia, Cryptorchidism, Optic disc coloboma, Ciliary body coloboma, Chorioretinal coloboma,... OMIM:309800
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Delayed cranial suture closure OMIM:618653
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Large fontanelles OMIM:606721
Yunis-Varon Syndrome
Wide cranial sutures, Absent sternal ossification, Cerebellar vermis hypoplasia, Congenital hip d... OMIM:216340
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia ORPHA:438213
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Leukocytosis, Bone marrow hypocellularit... ORPHA:2968
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe OMIM:619522
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Adrenocortic... ORPHA:293987
Isolated Arrhinia
Microphthalmia ORPHA:1134
Exstrophy-Epispadias Complex
Cryptorchidism, Abnormal joint morphology, Hydrocephalus, Spina bifida ORPHA:322
Pallister-Killian Syndrome
Ventriculomegaly, Congenital hip dislocation, Supernumerary nipple, Wide anterior fontanel, Crypt... OMIM:601803
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Casp3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Casp3.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Caspase Inhibition Modulates Monocyte-Derived Macrophage Polarization in Damaged Tissues. International journal of molecular sciences (February 2023) Casp3tm1c(EUCOMM)Hmgu Casp3tm1a(EUCOMM)Hmgu PMC9964254
An Apoptotic Caspase Network Safeguards Cell Death Induction in Pyroptotic Macrophages. Cell reports (July 2020) Casp3tm1a(EUCOMM)Hmgu PMC7408007
Apoptosis of intestinal epithelial cells restricts Clostridium difficile infection in a model of pseudomembranous colitis. Nature communications (November 2018) Casp3tm1a(EUCOMM)Hmgu PMC6242954

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Casp3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Casp3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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