Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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