Gene: Casp3 MGI:107739

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, Apopain, Yama, Caspase-3, A830040C14Rik, CC3, mldy, AC-3

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.

Human diseases associated with Casp3 (0 diseases)
Human diseases predicted to be associated with Casp3 (1514 diseases)

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	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	Gait disturbance, Ataxia	ORPHA:1168
Early-Onset Generalized Limb-Onset Dystonia	Gait disturbance	ORPHA:256
Auditory Neuropathy, Autosomal Dominant, 1	Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment...	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
Parietal Foramina 1	Encephalocele, Cleft upper lip, Cleft palate	OMIM:168500
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Chorioretinal coloboma, Abnormality of the antihelix, Cryptorchidism, Cataract, Hearing impairment	OMIM:274205
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus	OMIM:615938
Syngnathia	Cleft palate	OMIM:119550
Megalencephaly, Autosomal Dominant	Megalencephaly, Hydrocephalus	OMIM:155350
Cochleosaccular Degeneration With Progressive Cataracts	Hearing impairment, Progressive cataract	OMIM:120040
Isolated Dandy-Walker Malformation	Encephalocele, Cleft palate	ORPHA:217
Opticocochleodentate Degeneration	Hearing impairment, Optic atrophy, Cochlear degeneration	OMIM:258700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep...	OMIM:615937
Deafness, X-Linked 6	Hearing impairment, Cochlear malformation	OMIM:300914
Spinocerebellar Ataxia 41	Unsteady gait, Ataxia	OMIM:616410
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Hypoplasia of the brainstem, Cerebellar hypoplasia, Retinal dysplasia, Polymicrogyria, Cortical d...	OMIM:615771
Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant	Atretic occipital cephalocele	OMIM:609222
Chudley-Mccullough Syndrome	Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus c...	OMIM:604213
Craniosynostosis 1	Craniosynostosis, Oxycephaly, Dolichocephaly, Scaphocephaly, Turricephaly	OMIM:123100
Band Heterotopia	Agenesis of corpus callosum, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Subcortic...	OMIM:600348
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Hearing impairment	OMIM:300719
Van Der Woude Syndrome 2	Cleft palate, Cleft upper lip, Anodontia	OMIM:606713
Cocaine Embryofetopathy	Intestinal atresia, Encephalocele	ORPHA:1911
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Deafness, Autosomal Dominant 9	Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Parietal Foramina 3	Encephalocele	OMIM:609566
Usher Syndrome Type 1	Iris hypopigmentation, Subcortical cerebral atrophy, Cataract, Cerebral cortical atrophy, Sensori...	ORPHA:231169
Spastic Paraparesis And Deafness	Hypogonadism, Cataract, Hearing impairment	OMIM:312910
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Sensorineural hearing impairment, Astigmatism, Abnormal cochlea ...	ORPHA:231183
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele	ORPHA:1003
Nathalie Syndrome	Cataract, Sensorineural hearing impairment	ORPHA:2663
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortica...	OMIM:618709
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Orbital craniosynostosis, Frontal bossing, Cerebellar hypoplasia, Dolichocephaly, Optic atrophy, ...	ORPHA:1538
Optic Atrophy 3, Autosomal Dominant	Cataract, Hearing impairment, Optic atrophy, Optic disc pallor	OMIM:165300
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Frontal bossing, Wormian bones	ORPHA:2787
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures	Platybasia, Moderate generalized osteoporosis, Wormian bones, Abnormal joint morphology	OMIM:166230
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Potocki-Shaffer syndrome	Parietal foramina, Delayed cranial suture closure	DECIPHER:34
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele	OMIM:213010
Spastic Paraparesis-Deafness Syndrome	Cataract, Hypogonadism, Sensorineural hearing impairment	ORPHA:2815
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction	Progressive sensorineural hearing impairment, Cochlear degeneration	OMIM:172500
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Beemer Lethal Malformation Syndrome	Hydrocephalus, Wide nasal bridge	OMIM:209970
Deafness-Hypogonadism Syndrome	Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd...	ORPHA:90646
Trigonocephaly 2	Trigonocephaly, Metopic synostosis	OMIM:614485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the brainstem, Pachygyria, Coloboma, Type II lissencephaly, Cerebellar cyst, Ventri...	OMIM:613153
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism, Abnormality of the antihelix, Chorioretinal coloboma, Hypoplasia of the antihelix...	ORPHA:2489
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr...	ORPHA:352682
Abcd Syndrome	Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon	OMIM:600501
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy	OMIM:601382
Meckel Syndrome, Type 8	Encephalocele, Cleft upper lip, Cleft palate	OMIM:613885
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
Parietal Foramina 2	Encephalocele	OMIM:609597
Isolated Oxycephaly	Oxycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Sagittal craniosynostosis	ORPHA:63440
Alexander Disease	Increased CSF protein, Hydrocephalus	OMIM:203450
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cleft palate, Non-midline cleft lip, Tooth agenesis	ORPHA:1074
Pai Syndrome	Encephalocele, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula, Median cleft lip	ORPHA:1993
Meckel Syndrome, Type 9	Occipital encephalocele	OMIM:614209
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula...	OMIM:600791
Cofs Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Camptodactyly of finge...	ORPHA:1466
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract, Sensorineural hearing impairment	OMIM:613076
Oculoauriculofrontonasal Syndrome	Narrow mouth, Encephalocele, Cleft lip, Cleft palate, Broad philtrum	ORPHA:398156
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Hydrocephalus	OMIM:166990
Pendred Syndrome	Cochlear malformation, Goiter, Vestibular dysfunction, Congenital sensorineural hearing impairment	OMIM:274600
Meckel Syndrome, Type 11	Occipital encephalocele	OMIM:615397
Schisis Association	Encephalocele, Unilateral cleft lip, Anal atresia, Cleft palate, Tracheoesophageal fistula	ORPHA:63862
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Oral cleft, Occipital encephalocele	ORPHA:324416
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Pachygyria, Chorioretinal ...	OMIM:251270
Lissencephaly 5	Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call...	OMIM:615191
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Cleft palate	ORPHA:2117
Edinburgh Malformation Syndrome	Death in infancy, Hydrocephalus	OMIM:129850
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele	OMIM:200130
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Cochlear degeneration, Spinocerebellar atrophy, Hearing impairment, ...	ORPHA:95433
Developmental And Epileptic Encephalopathy 36	Cerebral atrophy, Microcephaly, Optic atrophy, Anteverted nares, Hydrocephalus	OMIM:300884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Type II lissencephaly, Ventriculomegaly, Flexion contracture, Retinal dysplasia, Optic atrophy, H...	OMIM:613154
Congenital Hydrocephalus	Bulbous nose, Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration,...	ORPHA:2185
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Wormian bones, Abnormality of the knee, Osteolysis, Abnormal cortical bone m...	ORPHA:970
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph...	ORPHA:2703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Microphthalmia, Simplified gyral pattern, ...	OMIM:616171
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hearing impairment, Cerebral cortical atrophy	ORPHA:401830
Craniotelencephalic Dysplasia	Craniosynostosis, Agenesis of corpus callosum, Frontal bossing, Arrhinencephaly, Cerebellar hypop...	ORPHA:1528
Pineocytoma	Increased CSF protein, Hydrocephalus	ORPHA:251912
Fanconi Anemia, Complementation Group R	Microcephaly, Hydrocephalus	OMIM:617244
Cataract 20, Multiple Types	Cataract, Membranous cataract	OMIM:116100
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Autosomal Dominant Striatal Neurodegeneration	Dysdiadochokinesis, Gait disturbance, Bradykinesia	ORPHA:228169
Nathalie Syndrome	Cataract, Hearing impairment	OMIM:255990
Liberfarb Syndrome	Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Micro...	OMIM:618889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Ventriculomegaly, Cerebellar hypoplasia, Retinal dysplasia, Microphthalmia...	OMIM:614830
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification	ORPHA:99966
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev...	OMIM:616648
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoplasia of the brainstem, Coloboma, Type II lissencephaly, Hydrocephalus, Hypoplasia of the po...	ORPHA:370959
Pallister-Hall-Like Syndrome	Microglossia, Occipital encephalocele, Median cleft lip, Cleft palate	OMIM:241800
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Cleft palate	OMIM:611561
Craniosynostosis 7	Craniosynostosis	OMIM:617439
Craniosynostosis 5, Susceptibility To	Craniosynostosis	OMIM:615529
Congenital Muscular Dystrophy With Intellectual Disability	Cryptorchidism, Abnormal periventricular white matter morphology, Pigmentary retinopathy, Hypopla...	ORPHA:370968
Mohr-Tranebjaerg Syndrome	Vestibular dysfunction, Global brain atrophy, Caudate atrophy, Absent brainstem auditory response...	ORPHA:52368
Van Der Woude Syndrome 1	Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit	OMIM:119300
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials	ORPHA:99852
Hydrocephalus, Congenital, 3, With Brain Anomalies	Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617967
Dandy-Walker Syndrome	Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Ceroid Lipofuscinosis, Neuronal, 7	Pigmentary retinopathy, Cerebral atrophy, Cerebellar atrophy, Optic atrophy, Retinopathy	OMIM:610951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyr...	OMIM:615181
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Microcephaly, Optic atrophy, Hydrocephalus, Dandy-Walke...	OMIM:617281
Gómez-López-Hernández Syndrome	Midface retrusion, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainst...	ORPHA:1532
Frontonasal Dysplasia 1	Median cleft palate, Cranium bifidum occultum, Anterior basal encephalocele, Widely-spaced maxill...	OMIM:136760
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele	OMIM:614416
Branchiootic Syndrome 1	Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing...	OMIM:602588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Agenesis of corpus callosum, Coloboma, Type II lissencephaly, Flexio...	OMIM:615249
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Ventriculomegaly, Normal pressure hydrocephalus	OMIM:611808
Fried Syndrome	Thickened calvaria, Abnormality of the optic nerve, Abnormal cerebellum morphology, Cerebral calc...	ORPHA:85335
Warburg Micro Syndrome 1	Osteoporosis, Joint hypermobility, Perisylvian polymicrogyria, Cryptorchidism, Enlarged sylvian c...	OMIM:600118
Frontal Encephalocele	Encephalocele	ORPHA:1931
Meckel Syndrome, Type 10	Occipital encephalocele, Cleft palate	OMIM:614175
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Bilateral cleft lip and palate, Cleft upper lip	OMIM:601357
Holoprosencephaly 5	Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly...	OMIM:609637
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Agenesis of corpus callosum, Increased CSF lactate, Ventriculomegaly, Hypoplasia of the corpus ca...	ORPHA:255182
Osteogenesis Imperfecta, Type Xii	Osteoporosis, Wormian bones, Midface retrusion, Generalized osteoporosis, Brachyturricephaly	OMIM:613849
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Microcephaly, Chorioretinal dysplasia	OMIM:616335
Enlarged Parietal Foramina	Occipital encephalocele, Cleft lip, Cleft palate	ORPHA:60015
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Microcephaly, Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy	OMIM:619090
Ehlers-Danlos Syndrome, Beasley-Cohen Type	Cataract, Hearing impairment	OMIM:608763
Achondroplasia	Limited elbow extension, Limited hip extension, Frontal bossing, Generalized joint laxity, Midfac...	OMIM:100800
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Cleft palate	OMIM:164180
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Megalencephaly, Polymicrogyria, Abnormal nasal morphology, Depressed nasal bridge	ORPHA:83473
Joubert Syndrome 22	Temporal cortical atrophy, Coloboma, Hypoplasia of the corpus callosum, Retinal dysplasia, Microp...	OMIM:615665
Ataxia-Tapetoretinal Degeneration Syndrome	Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Wormian bones, Abnormal cortical bone morphology, Pathologic fracture, Dolichocephaly, Limitation...	ORPHA:166277
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density	OMIM:241520
Acalvaria	Spina bifida, Holoprosencephaly, Abnormality of neuronal migration, Hydrocephalus, Abnormal lung ...	ORPHA:945
Craniotelencephalic Dysplasia	Craniosynostosis, Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve h...	OMIM:218670
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Hydrocephalus	OMIM:258320
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Chorioretinal coloboma, Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal...	ORPHA:163961
Polymicrogyria Due To Tubb2B Mutation	Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu...	ORPHA:300573
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Wormian bones, Platybasia, Decreased calvarial ossification, Multiple prenatal fractures, Bowing ...	OMIM:259410
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Ventriculomegaly, Thrombocytopenia, Cerebral calcification, ...	ORPHA:858
Pycnodysostosis	Osteolytic defects of the distal phalanges of the hand, Wormian bones, Frontal bossing, Persisten...	OMIM:265800
Acromelic Frontonasal Dysostosis	U-Shaped upper lip vermilion, Encephalocele, Cleft upper lip, Cleft palate	OMIM:603671
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Death in infancy, Simplified gyral pattern, Agenesis of corpus callosum, Partial a...	OMIM:619302
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum	OMIM:304100
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia	ORPHA:2246
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy	OMIM:617519
Osteogenesis Imperfecta, Type V	Joint hypermobility, Wormian bones, Recurrent fractures, Anterior radial head dislocation, Hypere...	OMIM:610967
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Cataract, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Aicardi-Goutieres Syndrome 4	Convex nasal ridge, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Death in ch...	OMIM:610333
Joubert Syndrome 16	Encephalocele	OMIM:614465
Meckel Syndrome 13	Occipital encephalocele	OMIM:617562
Hao-Fountain Syndrome	Delayed cranial suture closure, Trigonocephaly, Large fontanelles	OMIM:616863
Distal 7Q11.23 Microduplication Syndrome	Frontal encephalocele	ORPHA:261102
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, High, narrow palate, Cleft upper lip, Cleft palate	OMIM:607597
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem...	OMIM:601596
Leber Congenital Amaurosis	Encephalocele	ORPHA:65
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar atroph...	OMIM:617862
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Sensorin...	ORPHA:1473
Congenital Cataracts, Hearing Loss, And Neurodegeneration	Developmental cataract, Cerebral atrophy, Cataract, Hearing impairment, Cerebellar atrophy	OMIM:614482
Masa Syndrome	Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:303350
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Frontal encephalocele, Downturned corners of mouth	ORPHA:521308
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Cerebral atrophy, Microphthalmia, Microcephaly, Optic atrophy, Agenesis of corpus callosum	OMIM:274270
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance	Cryptorchidism, Global brain atrophy, External genital hypoplasia, Cataract, Hearing impairment	OMIM:612947
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Adult onset sensorineural hearing impairment, Cataract, Optic atrophy	ORPHA:329314
Hyperreflexia	Microcephaly, Abnormality of retinal pigmentation, Ankle clonus	OMIM:145290
Meckel Syndrome, Type 2	Encephalocele, Cleft palate	OMIM:603194
Pettigrew Syndrome	Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocephalus, Dandy-...	OMIM:304340
Lissencephaly 8	Occipital encephalocele	OMIM:617255
Congenital Disorder Of Glycosylation, Type Ii	Cataract, Coloboma, Hypsarrhythmia	OMIM:607906
Ectrodactyly-Cleft Palate Syndrome	Cleft palate	OMIM:129830
Microphthalmia, Isolated, With Coloboma 5	Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Microphthalmi...	OMIM:611638
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Anterior encephalocele	OMIM:614195
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy	OMIM:125250
Papilloma Of Choroid Plexus	Papilledema, Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	Bulbous nose, Abnormal cerebral white matter morphology, Wide nasal bridge, Anteverted nares, Hyd...	OMIM:600991
Laurence-Moon Syndrome	Cryptorchidism, Low-set, posteriorly rotated ears, Iris coloboma, Cataract, Sensorineural hearing...	ORPHA:2377
Charcot-Marie-Tooth Disease, Type 4D	Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity	OMIM:601455
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract, Cerebral atrophy, Cerebellar vermis atrophy, Macrotia	OMIM:616154
Retinitis Pigmentosa	Keratoconus, Abnormal testis morphology, Conductive hearing impairment, Cataract, Sensorineural h...	ORPHA:791
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Delayed closure of the anterior fontanelle, Agenesis of corpus callosum, Lambdoidal craniosynosto...	OMIM:618736
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Kleeblattschaedel	Elbow ankylosis, Craniosynostosis, Cloverleaf skull, Hydrocephalus	OMIM:148800
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Osteoarthr...	ORPHA:2114
Crouzon Disease	Arnold-Chiari malformation, Frontal bossing, Midface retrusion, Melanocytic nevus, Cerebellar hyp...	ORPHA:207
Cerebrooculofacioskeletal Syndrome 1	Osteoporosis, Arthrogryposis multiplex congenita, Camptodactyly, Cerebellar hypoplasia, Microphth...	OMIM:214150
Triopia	Encephalocele, Median cleft lip, Cleft palate	ORPHA:3374
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Central Areolar Choroidal Dystrophy	Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los...	ORPHA:75377
Bruck Syndrome 2	Wormian bones, Flexion contracture, Pterygium, Increased susceptibility to fractures, Knee flexio...	OMIM:609220
Nanophthalmos	Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:35612
Retinitis Pigmentosa 36	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati...	OMIM:610599
Grant Syndrome	Wormian bones, Large fontanelles, Frontal bossing, Joint hyperflexibility, Abnormal cortical bone...	ORPHA:2097
Osteomalacia, Sclerosing, With Cerebral Calcification	Osteomalacia, Generalized osteosclerosis, Increased bone mineral density	OMIM:259660
Multiple Mitochondrial Dysfunctions Syndrome 5	Microcephaly, Ventriculomegaly, Pachygyria, Pigmentary retinopathy	OMIM:617613
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Ventri...	ORPHA:272
Meckel Syndrome, Type 3	Occipital encephalocele, Cleft palate	OMIM:607361
Van Buchem Disease	Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density	OMIM:239100
Joubert Syndrome 2	Thickened superior cerebellar peduncle, Chorioretinal coloboma, Hypoplasia of the brainstem, Fron...	OMIM:608091
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Cerebral cortical atrophy, EEG abnormality, Vaginal hernia, Optic disc pallor	ORPHA:3173
Joubert Syndrome 14	Short philtrum, Tented upper lip vermilion, Encephalocele, Open mouth	OMIM:614424
Frontorhiny	Encephalocele, Bifid tongue, Cranium bifidum occultum, Cleft palate, Basal encephalocele	ORPHA:391474
Walker-Warburg Syndrome	Cryptorchidism, Chorioretinal dysplasia, Iris coloboma, Anophthalmia, Hydrocephalus, Pachygyria, ...	ORPHA:899
Gastric Cancer, Hereditary Diffuse	Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate	OMIM:137215
Dandy-Walker Malformation With Postaxial Polydactyly	Frontal bossing, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventric...	OMIM:220220
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Cerebellar cyst, Cerebellar dysplasia, Retinal dystrophy, Dilated fourth ventric...	ORPHA:370022
Microphthalmia, Isolated, With Coloboma 6	Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea, Coloboma	OMIM:613703
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Persistent Placoid Maculopathy	Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H...	ORPHA:97341
Stickler Syndrome Type 2	Cataract, Sensorineural hearing impairment, Corneal opacity	ORPHA:90654
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia	ORPHA:1574
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Cleft palate	OMIM:612284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cryptorchidism, Pigmentary retinopathy, Hypoplasia of the corpus callosum, Ventriculomegaly, Flex...	OMIM:613156
Peroxisome Biogenesis Disorder 11B	Cataract, Hearing impairment, Hearing abnormality	OMIM:614885
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Sensorineural hearing impairment, Decreased nerve conduction velocity	OMIM:614932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly...	OMIM:615287
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus, Depress...	OMIM:602501
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Hyperostosis,...	OMIM:604922
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation	Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion...	OMIM:226440
Pierpont Syndrome	Cryptorchidism, Joint laxity, Ventriculomegaly, Primary microcephaly, Abnormal cortical gyration,...	ORPHA:487825
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Ring Chromosome 14 Syndrome	Microcephaly, Dolichocephaly, Flat occiput, Pigmentary retinopathy	OMIM:616606
Coach Syndrome 2	Chorioretinal coloboma, Agenesis of corpus callosum, Coloboma, Cerebellar vermis hypoplasia, Mola...	OMIM:619111
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries, Cataract, Cerebellar atrophy,...	ORPHA:3085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Hypoplasia of the brainstem, Cryptorchidism, Coloboma, Type II lissencephaly, Agyria, Hydrocephal...	OMIM:236670
Hydrolethalus Syndrome 2	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly	OMIM:614120
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Wormian bones, Osteoporosis, Joint laxity, Frontal bossing, Abnormal...	ORPHA:2788
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Rieger anomaly, Sensorineural hearing impairment, Abnormally...	OMIM:109120
Methylmalonic Acidemia With Homocystinuria	Microcephaly, Hydrocephalus	ORPHA:26
Weaver-Williams Syndrome	Narrow mouth, Cleft palate	ORPHA:3448
Van Der Woude Syndrome	Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip...	ORPHA:888
Joubert Syndrome 9	Encephalocele	OMIM:612285
Craniofacial Dyssynostosis	Craniosynostosis, Frontal bossing, Hypoplasia of the corpus callosum, Patent ductus arteriosus, D...	ORPHA:1516
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Conical tooth, Broad philtrum, Encephalocele, Abnormality of the dentition	ORPHA:228390
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Chorioretinal coloboma, Hydrocephalus, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of c...	OMIM:300864
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Craniosynostosis, Agenesis of corpus callosum, Frontal bossing, Camptodactyly of ...	OMIM:175700
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cryptorchidism, Abnormality of the septum pellucidum, Craniosynostosis, Radioulnar synostosis, La...	ORPHA:171839
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Low-set ears, Cataract, Macrotia	ORPHA:3433
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Zechi-Ceide Syndrome	Oligodontia, Cephalocele, Cleft upper lip, Cleft palate	OMIM:612916
Pseudoprogeria Syndrome	Cranium bifidum occultum	ORPHA:2985
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Encephalocele, Solitary median maxillary central inci...	OMIM:605627
Bor Syndrome	Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At...	ORPHA:107
Developmental And Epileptic Encephalopathy 73	Cataract, Sensorineural hearing impairment	OMIM:618379
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Iris hypopigmentation, Hypochromic anemia, Abnormality of n...	ORPHA:2720
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1852
Bruck Syndrome	Osteoporosis, Wormian bones, Arthrogryposis multiplex congenita, Recurrent fractures, Pterygium, ...	ORPHA:2771
Frontofacionasal Dysplasia	Encephalocele, Non-midline cleft lip, Cleft palate	ORPHA:1791
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Craniosynostosis 6	Craniosynostosis, Plagiocephaly, Abnormal corpus callosum morphology, Cerebellar atrophy, Delayed...	OMIM:616602
Temtamy Syndrome	Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Joint hyperflexibility, Iris c...	ORPHA:1777
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Short philtrum, Open mouth, Pyloric stenosis, Encephalocele, Tented up...	OMIM:619148
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Microphthalmia, Retina...	OMIM:212550
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Sensorineural hearing impairment, Optic atrophy	OMIM:270800
Peroxisome Biogenesis Disorder 8B	Corpus callosum atrophy, Cataract, Sensorineural hearing impairment, Cerebellar vermis atrophy, O...	OMIM:614877
Curry-Jones Syndrome	Craniosynostosis, Coloboma, Ventriculomegaly, Megalencephaly, Arnold-Chiari type I malformation, ...	OMIM:601707
Gombo Syndrome	Microcephaly, Microphthalmia	OMIM:233270
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex ...	ORPHA:411493
Erythrokeratodermia Variabilis	Abnormal testis morphology, Corneal opacity, Cataract, Hearing impairment, Protruding ear	ORPHA:317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the brainstem, Remnants of the hyaloid vascular system, Pachygyria, Type II lissenc...	OMIM:614643
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Arthrogryposis multiplex congenita, Microphthalmia	OMIM:616570
Microphthalmia, Isolated 5	Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli...	OMIM:611040
Distal Monosomy 13Q	Anal atresia, Encephalocele	ORPHA:1590
Pendred Syndrome	Hypoplasia of the cochlea, Vertigo, Goiter, Enlarged vestibular aqueduct, Sensorineural hearing i...	ORPHA:705
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Colpocephaly, Bulbous nose, Gray matter heterotopia, Ventriculomegaly, Simplified gyral pattern, ...	OMIM:615219
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Oliver-Mcfarlane Syndrome	Cryptorchidism, Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Decreased re...	OMIM:275400
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Cataract, Abnormality iris morphology, Coloboma	ORPHA:1617
Melanosis, Neurocutaneous	Dandy-Walker malformation, Death in infancy, Hydrocephalus, Choroid plexus papilloma	OMIM:249400
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Craniosynostosis, Aqueductal stenosis, Microcephaly, Agenesi...	ORPHA:1496
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia...	ORPHA:85128
Zika Virus Disease	Macular atrophy, Congenital intracerebral calcification, Increased circulating IgM level, Absent ...	ORPHA:448237
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hypoplasia of the corpus callosum, Cerebral atrophy, Seconda...	ORPHA:397951
Menkes Disease	Osteoporosis, Wormian bones, Brachycephaly, Joint laxity	OMIM:309400
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Hearing impairment, Cataract	ORPHA:67048
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract, Premature ovarian insufficiency	ORPHA:2278
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Progressive sensorineural hearing impairment, Developmental cataract, Cataract, Sensorineural hea...	ORPHA:436174
Osteogenesis Imperfecta, Type Ix	Wormian bones, Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures...	OMIM:259440
Nestor-Guillermo Progeria Syndrome	Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the ante...	OMIM:614008
Vici Syndrome	Abnormality of retinal pigmentation, Abnormal macular morphology, Agenesis of corpus callosum, Ce...	ORPHA:1493
Leber Congenital Amaurosis 1	Keratoconus, Sensorineural hearing impairment, Cataract	OMIM:204000
Subependymal Nodular Heterotopia	Nasofrontal encephalocele, Occipital encephalocele	ORPHA:101030
Idiopathic Uveal Effusion Syndrome	Retinal fold, Subretinal fluid, Increased CSF protein, Microphthalmia, Exudative retinal detachment	ORPHA:209956
1Q21.1 Microduplication Syndrome	Cryptorchidism, Arthrogryposis multiplex congenita, Frontal bossing, Hip dislocation, Hydrocephalus	ORPHA:250994
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebral atrophy, Brain atrophy, Cataract, Cerebellar atrophy, Abnormal auditory evoked potential...	OMIM:619260
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Low-set, posteriorly rotated ears, Cataract	ORPHA:1373
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Anteriorly placed anus	ORPHA:280195
Micro Syndrome	Cryptorchidism, Abnormality of retinal pigmentation, Pachygyria, Aplasia/Hypoplasia of the corpus...	ORPHA:2510
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Wide nasal bridge...	OMIM:618577
Joubert Syndrome With Renal Defect	Oral cleft, Aganglionic megacolon, Encephalocele, Cleft palate	ORPHA:220497
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Premature ovarian insufficiency, Abnormality of bone mineral...	ORPHA:3156
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma	OMIM:251505
Spondyloepiphyseal Dysplasia, Nishimura Type	Abnormal bone ossification, Wide anterior fontanel, Frontal bossing, Anterior plagiocephaly, Abno...	ORPHA:163649
Joubert Syndrome 7	Encephalocele	OMIM:611560
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Th...	ORPHA:290
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp...	ORPHA:2182
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Non-midline cleft lip, Cleft palate	ORPHA:1908
Peho Syndrome	Arthrogryposis multiplex congenita, Biparietal narrowing, Porencephalic cyst, Hydrocephalus, Midf...	ORPHA:2836
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Hypoplasia of the corpus callosum, Abnormal cerebral whit...	ORPHA:100996
Autosomal Recessive Spastic Paraplegia Type 46	Corpus callosum atrophy, Abnormal sperm head morphology, Cerebral atrophy, Abnormal sperm morphol...	ORPHA:320391
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	OMIM:182940
Albers-Schönberg Osteopetrosis	Genu valgum, Frontal bossing, Hydrocephalus, Recurrent fractures, Generalized osteosclerosis, Man...	ORPHA:53
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Cleft Lip/Palate	Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de...	ORPHA:199306
Combined Oxidative Phosphorylation Deficiency 47	Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Cataract	OMIM:618958
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cerebellar cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar ver...	ORPHA:370997
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Chondrodysplasia Punctata 1, X-Linked Recessive	Hypogonadism, Cataract, Hearing impairment	OMIM:302950
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy	OMIM:551500
Bresek Syndrome	Cryptorchidism, Decreased testicular size, Iris coloboma, Plagiocephaly, Neonatal death, Optic ne...	ORPHA:85284
Wagner Vitreoretinopathy	Cataract, Optic atrophy	OMIM:143200
Slc35A2-Cdg	Joint hypermobility, Craniosynostosis, Hip subluxation, Cerebral white matter atrophy, Abnormal m...	ORPHA:356961
Microcephaly-Cardiomyopathy Syndrome	Ventriculomegaly, Microcephaly, Abnormality of retinal pigmentation	ORPHA:2515
Meckel Syndrome, Type 4	Encephalocele, Cleft palate	OMIM:611134
Osteogenesis Imperfecta, Type Iii	Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Platybasia, Decrease...	OMIM:259420
Norrie Disease	Shallow anterior chamber, Hypoplasia of the iris, Cataract, Sensorineural hearing impairment, Opa...	OMIM:310600
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Pigmentary retinopathy, Brachycephaly, Optic atrophy, Rod-cone dystrophy	OMIM:264470
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly, Bone cyst, Reduced bone mineral density, Cerebral cortical atrop...	ORPHA:2770
Spinocerebellar Ataxia 7	Olivopontocerebellar atrophy, Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Coloboma	OMIM:614497
Adams-Oliver Syndrome 2	Cerebral atrophy, Cerebellar hypoplasia, Retrocerebellar cyst, Polymicrogyria, Microphthalmia, Mi...	OMIM:614219
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius	Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum	OMIM:307000
Achromatopsia	Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ...	ORPHA:49382
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Abnormal shape of the occiput, Agenesis of corpus callosum, Frontal bossing, Midf...	OMIM:218350
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Cataract, Hearing impairment	OMIM:609313
Retinopathy, Pericentral Pigmentary, Dominant	Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,...	OMIM:180210
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventriculomegaly, Flexion contracture, ...	OMIM:225790
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Joint stiffness, Generalized hyperpigmentation, Microcephaly...	ORPHA:816
Wagr Syndrome	Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Cataract, Displacement of th...	ORPHA:893
Cutis Laxa, Autosomal Recessive, Type Iib	Joint hypermobility, Agenesis of corpus callosum, Congenital hip dislocation, Frontal bossing, La...	OMIM:612940
Leber Congenital Amaurosis 2	Cerebellar vermis hypoplasia, Pigmentary retinopathy, Fundus atrophy	OMIM:204100
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Chromosome 15Q14 Deletion Syndrome	Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate	OMIM:616898
X-Linked Intellectual Disability, Najm Type	Chorioretinal coloboma, Macrotia, Cataract, Cerebral cortical atrophy, Sensorineural hearing impa...	ORPHA:163937
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Cleft palate	OMIM:179400
Dacryocystitis-Osteopoikilosis Syndrome	Osteopoikilosis, Increased bone mineral density	ORPHA:1562
Thanatophoric Dysplasia Type 2	Encephalocele	ORPHA:93274
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Midface retrusion, Hypoplasia of the corpus callosum, Ce...	ORPHA:83629
Infantile Sialic Acid Storage Disease	Hydrocephalus, Vacuolated lymphocytes, Cerebral atrophy, Fair hair, Splenomegaly, Osteopenia, Hyp...	OMIM:269920
Intellectual Developmental Disorder And Retinitis Pigmentosa	Cataract, Peripapillary atrophy, Optic disc pallor	OMIM:618195
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Pentalogy Of Cantrell	Oral cleft, Encephalocele, Non-midline cleft lip, Cleft palate	ORPHA:1335
Flynn-Aird Syndrome	Progressive sensorineural hearing impairment, Cataract	OMIM:136300
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Death in infancy, Communicating hydrocephalus	OMIM:600559
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellum...	ORPHA:2481
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment, Cataract	OMIM:132450
Peroxisome Biogenesis Disorder 7A (Zellweger)	Posteriorly rotated ears, Cataract, Low-set ears	OMIM:614872
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Dysplastic corpus callosum, Cerebellar atrophy, Polymicrogyria, Optic nerve ...	OMIM:614833
Zechi-Ceide Syndrome	Thin vermilion border, Oligodontia, Short philtrum, Downturned corners of mouth, Cleft lip, Atret...	ORPHA:217017
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Ventriculomegaly, ...	OMIM:618476
Macrosomia With Microphthalmia, Lethal	Microphthalmia	OMIM:248110
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Abnormality of the fontanelles or cranial sutures, Abnormality of calvarial morphology, Microphth...	ORPHA:2432
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Papillorenal Syndrome	Joint laxity, Retinal coloboma, Lens luxation, Chorioretinal atrophy, Arnold-Chiari type I malfor...	OMIM:120330
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cryptorchidism, Hypoplasia of the semicircular canal, Heterochromia iridis, Long-segment aganglio...	OMIM:609136
Fanconi Anemia, Complementation Group I	Agenesis of corpus callosum, Absent septum pellucidum, Neutropenia, Bone marrow hypocellularity, ...	OMIM:609053
Premature Aging Syndrome, Penttinen Type	Wormian bones, Thin calvarium, Midface retrusion, Delayed cranial suture closure, Osteopenia, Ost...	OMIM:601812
Osteogenesis Imperfecta, Type Xiii	Osteoporosis, Joint hypermobility, Dislocated radial head, Wormian bones, Increased bone mineral ...	OMIM:614856
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Hydrocephalus	OMIM:612247
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Macrotia, Cerebral cortical atrophy, Cataract, Protruding ear, Cerebellar atrophy, Optic atrophy	OMIM:617481
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Microphthalmia-Brain Atrophy Syndrome	Corpus callosum atrophy, Bilateral microphthalmos, Cerebellar vermis atrophy, Diffuse cerebral at...	ORPHA:77299
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Cataract, Sensorineural hearing impairment, EEG abnormality, O...	ORPHA:44
Joubert Syndrome With Ocular Defect	Oral cleft, Aganglionic megacolon, Encephalocele, Cleft palate	ORPHA:220493
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ambiguous genitalia, Low-set, posteriorly rotated ears, Cataract, Hypoplasia of p...	ORPHA:2772
Norrie Disease	Abnormal pupil morphology, Cryptorchidism, Remnants of the hyaloid vascular system, Macrotia, Ant...	ORPHA:649
Microphthalmia, Isolated, With Coloboma 10	Chorioretinal coloboma, Iris coloboma, Microphthalmia, Anophthalmia	OMIM:616428
Biemond Syndrome Type 2	Microphthalmia, Coloboma, Hydrocephalus	ORPHA:141333
Acromelic Frontonasal Dysplasia	Wide mouth, Median cleft palate, Encephalocele, Median cleft lip	ORPHA:1827
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Metopic suture patent to nasal root, Small anterior fontanelle, Premature posterior fontanelle cl...	ORPHA:3369
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse...	OMIM:617542
Duplication Of The Pituitary Gland	Abnormality of the tongue, Wide mouth, Encephalocele, Supernumerary tooth, Cleft palate, Volvulus	ORPHA:314621
Xq21 Microdeletion Syndrome	Stapes ankylosis, Conductive hearing impairment, Pituitary hypothyroidism, Sensorineural hearing ...	ORPHA:1435
Mevalonic Aciduria	Low-set, posteriorly rotated ears, Cataract, Cerebral cortical atrophy	ORPHA:29
Peroxisome Biogenesis Disorder 9B	Cataract, Sensorineural hearing impairment	OMIM:614879
Acrocraniofacial Dysostosis	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm...	OMIM:201050
Distal Monosomy 10Q	Cochlear malformation, Patent ductus arteriosus, Abnormality of the outer ear, Morphological abno...	ORPHA:96148
Diencephalic Syndrome	Optic atrophy, Hydrocephalus	ORPHA:1672
Coach Syndrome 1	Wide mouth, Occipital encephalocele, Encephalocele, Esophageal varix	OMIM:216360
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op...	ORPHA:1215
Juvenile Paget Disease	Osteoporosis, Abnormality of retinal pigmentation, Melanocytic nevus, Recurrent fractures, Coarse...	ORPHA:2801
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cryptorchidism, Abnormality of the antihelix, Low-set, posteriorly rotated ears, Cataract, Cerebr...	ORPHA:1387
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Abnormal brainstem MRI signal intensity, Abnormality of the basal ganglia, Small basal ganglia	ORPHA:263410
Cohen Syndrome	Genu valgum, Cubitus valgus, Joint hypermobility, Cerebellar hypoplasia, Bull's eye maculopathy, ...	OMIM:216550
Retinitis Pigmentosa 32	Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:609913
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Hypoplasia of the brainstem, Abnormal cerebellar vermis morphology, Joint laxity, Type II lissenc...	ORPHA:300570
Warburg Micro Syndrome 2	Cryptorchidism, Developmental cataract, Asymmetry of the ears, Macrotia, Global brain atrophy, Sc...	OMIM:614225
Srd5A3-Cdg	Spotty hyperpigmentation, Coloboma, Microcytic anemia, Optic disc hypoplasia, Abnormal cerebellum...	ORPHA:324737
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Pigmentary ret...	ORPHA:79264
3-Methylglutaconic Aciduria, Type Viii	Cataract, Sensorineural hearing impairment, Cerebral atrophy	OMIM:617248
Osteopetrosis, Autosomal Recessive 5	Decreased osteoclast count, Stillbirth, Extramedullary hematopoiesis, Cerebral atrophy, Osteopetr...	OMIM:259720
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Cerebral cortical atrophy, Microcornea, Abnormality of peripheral nerve conduction, Hyp...	ORPHA:48431
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Encephalocele, Anal atresia, Bifid tongue, Cleft lip, Lobulated tongue, Cleft palate	OMIM:616300
Constricting Bands, Congenital	Encephalocele, Cleft upper lip, Cleft palate	OMIM:217100
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Hydrocephaly-Low Insertion Umbilicus Syndrome	Anomalous pulmonary venous return, Patent ductus arteriosus, Long nose, Communicating hydrocephal...	ORPHA:2184
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum, Hydrocephalus, Wide nasal bridge	ORPHA:380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Cere...	OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hypoplasia of the brainstem, Buphthalmos, Retinal atrophy, Coloboma, Type II lissencephaly, Pachy...	OMIM:253280
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Wormian bones, Wide anterior fontanel, Thin calvarium, Increased bone mineral density, Parietal b...	ORPHA:85184
Gomez-Lopez-Hernandez Syndrome	Wormian bones, Craniosynostosis, Wide anterior fontanel, Rhombencephalosynapsis, Midface retrusio...	OMIM:601853
Linear Nevus Sebaceus Syndrome	Aplasia/Hypoplasia of the cerebellum, Irregular hyperpigmentation, Biparietal narrowing, Porencep...	ORPHA:2612
Trisomy 13	Cryptorchidism, Abnormality of the antihelix, Abnormal morphology of female internal genitalia, I...	ORPHA:3378
Griscelli Syndrome	Pyloric stenosis, Encephalocele	ORPHA:381
Joubert Syndrome	Oral cleft, Aganglionic megacolon, Encephalocele	ORPHA:475
Osteopetrosis, Autosomal Recessive 1	Craniosynostosis, Frontal bossing, Hydrocephalus, Osteopetrosis, Increased bone mineral density, ...	OMIM:259700
Ritscher-Schinzel Syndrome 3	Chorioretinal coloboma, Cryptorchidism, Epiphyseal stippling, Wide anterior fontanel, Poorly ossi...	OMIM:619135
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Frontal bossing, Large fontanelles, Platybasia, Cloverleaf skull, Microphthalmia, Decreased skull...	ORPHA:93267
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Joubert Syndrome 3	Pigmentary retinopathy, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Retinal d...	OMIM:608629
Deafness, Autosomal Dominant 80	Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul...	OMIM:619274
Cataract-Microcornea Syndrome	Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy	ORPHA:1377
Baraitser-Winter Syndrome 2	Pachygyria, Coloboma, Ventriculomegaly, Trigonocephaly, Microphthalmia, Secondary microcephaly, A...	OMIM:614583
Pierpont Syndrome	Cryptorchidism, Midface retrusion, Microphthalmia, Brachycephaly, Arnold-Chiari malformation, Mic...	OMIM:602342
Warburg Micro Syndrome 4	Cryptorchidism, Perisylvian polymicrogyria, Hypoplasia of the corpus callosum, Decreased testicul...	OMIM:615663
Cerebrooculofacioskeletal Syndrome 2	Developmental cataract, Scrotal hypoplasia, Cataract, Hearing impairment, Micropenis	OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Cerebellar cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar ver...	OMIM:616538
Combined Oxidative Phosphorylation Deficiency 14	Ventriculomegaly, Cerebral atrophy, Thrombocytopenia, Cerebellar atrophy, Anemia, Atrophy/Degener...	OMIM:614946
Diprosopus	Abnormality of retinal pigmentation, Anencephaly	ORPHA:1681
Premature Ovarian Failure 12	Microphthalmia, Macular dystrophy	OMIM:616947
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy	OMIM:614307
Branchiootorenal Syndrome 1	Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Euthyroid goiter, Stenosis ...	OMIM:113650
Cataract 9, Multiple Types	Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract	OMIM:604219
Anterior Segment Dysgenesis 8	Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir...	OMIM:617319
Stevenson-Carey Syndrome	Coloboma, Hypoplasia of the corpus callosum, Camptodactyly, Cerebellar hypoplasia, Brachycephaly,...	OMIM:611961
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Brachycephaly, Arnold-Chiari malformation,...	ORPHA:93262
Edinburgh Malformation Syndrome	Short nose, Choanal atresia, Abnormality of neuronal migration, Anteverted nares, Hydrocephalus	ORPHA:1895
Narp Syndrome	Ventriculomegaly, Retinal pigment epithelial mottling, Cerebral cortical atrophy, Retinal arterio...	ORPHA:644
Galactokinase Deficiency	Hypergonadotropic hypogonadism, Nuclear cataract, Cataract, Sensorineural hearing impairment, Pre...	ORPHA:79237
Treacher-Collins Syndrome	Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Enc...	ORPHA:861
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Craniosynostosis, Holoprosencephaly, Plagiocephaly, Brachyce...	ORPHA:2163
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification	ORPHA:73256
Hydrocephalus, Congenital Communicating, 1	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Joubert Syndrome With Oculorenal Defect	Chorioretinal coloboma, Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Cerebell...	ORPHA:2318
Cach Syndrome	T2 hypointense thalamus, Arthrogryposis multiplex congenita, Flexion contracture, Cerebral atroph...	ORPHA:135
Metatropic Dysplasia	Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa...	ORPHA:2635
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Joint hyperflexibility, Ventriculomegaly, ...	ORPHA:60040
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sensorineural hearing impairment, Microcornea, Optic atrophy	ORPHA:35173
Sturge-Weber Syndrome	Heterochromia iridis, Iris coloboma, Hyperostosis, Abnormal choroid morphology, Cerebral cortical...	ORPHA:3205
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Aganglionic megacolon, Hydrocephalus, Wide nasal bridge	OMIM:613603
Peroxisome Biogenesis Disorder 12A (Zellweger)	Delayed closure of the anterior fontanelle, Wide anterior fontanel, Hydrocephalus, Cerebral atrop...	OMIM:614886
Stargardt Disease	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo...	ORPHA:827
Atelosteogenesis, Type I	Neonatal death, Encephalocele, Stillbirth, Cleft palate	OMIM:108720
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Frontal bossing, Rickets, Recurrent fractures, Flat occiput, Widely pa...	OMIM:600081
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Biparietal narrowing, ...	ORPHA:2518
Cole-Carpenter Syndrome 2	Wormian bones, Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Coronal craniosyn...	OMIM:616294
Baraitser-Winter Syndrome 1	Chorioretinal coloboma, Cryptorchidism, Pachygyria, Midface retrusion, Ventriculomegaly, Iris col...	OMIM:243310
Spastic Paraplegia 46, Autosomal Recessive	Cataract, Hearing impairment, Cerebral atrophy, Cerebellar atrophy	OMIM:614409
Autosomal Recessive Stickler Syndrome	Cataract, Astigmatism, Sensorineural hearing impairment	ORPHA:250984
Mulibrey Nanism	Frontal bossing, Pigmentary retinopathy, Ventriculomegaly, Iris coloboma, Dolichocephaly, Thicken...	OMIM:253250
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteoporosis, Wormian bones, Large fontanelles, Thickened calvaria, Osteolytic defects of the pha...	OMIM:259100
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Cleft palate	OMIM:224400
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Hypoplasia of the corpus callosum, Ventric...	OMIM:614576
Microphthalmia With Brain And Digit Anomalies	Chorioretinal coloboma, Cryptorchidism, Iris coloboma, Retinal dystrophy, Inferior vermis hypopla...	ORPHA:139471
Krabbe Disease	Increased CSF protein, Optic atrophy, Decreased nerve conduction velocity, Diffuse cerebral atrop...	OMIM:245200
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Microcephaly, Brachycephaly	ORPHA:2528
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Flexion contracture, Progressive leukoencephalopathy, Leukoencephalopathy...	OMIM:252011
Ulna Hypoplasia-Intellectual Disability Syndrome	Delayed cranial suture closure, Joint stiffness, Large fontanelles, Elbow dislocation	ORPHA:2249
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Dyssegmental Dysplasia, Silverman-Handmaker Type	Narrow mouth, Encephalocele, Cleft palate	ORPHA:1865
Microphthalmia, Isolated 4	Microphthalmia, Absent testis, Coloboma	OMIM:613094
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Joubert Syndrome 1	Chorioretinal coloboma, Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypop...	OMIM:213300
Temple Syndrome	Anteverted nares, Hydrocephalus, Wide nose, Depressed nasal bridge	OMIM:616222
Warburg Micro Syndrome 3	Developmental cataract, Shallow anterior chamber, Macrotia, Scrotal hypoplasia, Cataract, Cerebra...	OMIM:614222
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Rere-Related Neurodevelopmental Syndrome	Chorioretinal coloboma, Cryptorchidism, Frontal bossing, Hypoplasia of the corpus callosum, Ventr...	ORPHA:494344
Cone-Rod Dystrophy 16	Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:614500
Gorlin Syndrome	Cryptorchidism, Frontal bossing, Melanocytic nevus, Iris coloboma, Vertebral fusion, Brachycephal...	ORPHA:377
Pycnodysostosis	Wormian bones, Osteolysis, Frontal bossing, Hydrocephalus, Midface retrusion, Persistent open ant...	ORPHA:763
Infantile Refsum Disease	Cataract, Hearing impairment, Sensorineural hearing impairment, Facial palsy, Optic atrophy	ORPHA:772
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Joint hyperflexibility, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology...	ORPHA:1390
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cerebral atrophy, Progressive hearing impairment, Cataract, Hypogonadism, Premature ovarian insuf...	OMIM:609286
20Q11.2 Microdeletion Syndrome	Midface retrusion, Camptodactyly, Frontal bossing, Brainstem dysplasia	ORPHA:444051
Central Precocious Puberty	Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus	ORPHA:759
Chops Syndrome	Cryptorchidism, Patent ductus arteriosus, Cataract, Hearing impairment, Optic atrophy	OMIM:616368
Foveal Hypoplasia 2	Foveal hyperpigmentation, Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia	OMIM:609218
Ramon Syndrome	Abnormality of retinal pigmentation, Osteolysis	ORPHA:3019
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Hearing impairment, Vertigo, Cerebral cortical atrophy	ORPHA:3137
Renpenning Syndrome	Macrotia, Iris coloboma, Cataract, Sensorineural hearing impairment, Round ear, Hypospadias, Decr...	ORPHA:3242
Otopalatodigital Syndrome Type 2	Oligodontia, Narrow mouth, Pierre-Robin sequence, Encephalocele, Anodontia, Glossoptosis, Cleft p...	ORPHA:90652
Potocki-Shaffer Syndrome	Wormian bones, Parietal foramina, Brachycephaly, Turricephaly	OMIM:601224
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Scrotal hypoplasia, Cataract, Hearing impairment, Hypoplasia of penis, Decreased ...	ORPHA:127
Frontonasal Dysplasia 2	Encephalocele	OMIM:613451
Retinopathy, Pigmentary, And Mental Retardation

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