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Gene: Ntn1 MGI:105088

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

netrin 1

Synonyms:

Netrin-1

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 Ntn1 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 Ntn1 (2 diseases)
Human diseases predicted to be associated with Ntn1 (639 diseases)

The table below shows human diseases associated to Ntn1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Familial Congenital Mirror Movements		Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Mirror Movements 4			OMIM:618264

The table below shows human diseases predicted to be associated to Ntn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Syngnathia	Cleft palate	OMIM:119550
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Autosomal Recessive Spastic Paraplegia Type 67	Aplasia/Hypoplasia of the cerebellar vermis, Limb tremor, Cerebral cortical atrophy, Difficulty w...	ORPHA:401820
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Dysgenesis ...	OMIM:615771
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Unsteady gait, Midline brainstem ...	OMIM:617542
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Aggressive behavior, Inability to walk, Simplified gyral ...	OMIM:618492
Facial Clefting, Oblique, 1	Coloboma, Cleft palate, Cleft upper lip	OMIM:600251
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Impaired vibration sensation in the l...	OMIM:610245
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, ...	OMIM:611603
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Hand tremor, Aplasia/Hypoplasia of the ce...	ORPHA:401830
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly	ORPHA:171703
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Craniofacial Conodysplasia	Spinal cord compression, Hydrocephalus	ORPHA:85168
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum, Ataxia	ORPHA:85334
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Uvula, Bifid	Bifid uvula	OMIM:192100
Lissencephaly, X-Linked, 1	Ataxia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Optic nerve hypoplasia, Dysphagia, Aplasia/Hypoplasia of ...	ORPHA:572013
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T...	OMIM:166750
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:618325
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Generalized dystonia, Dysphagia, Microcephaly	OMIM:619025
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Abruzzo-Erickson Syndrome	Coloboma, Cleft palate	OMIM:302905
Masa Syndrome	Agenesis of corpus callosum, Gait disturbance	ORPHA:2466
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene...	OMIM:618286
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst...	ORPHA:255182
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Limb ataxia, A...	OMIM:617695
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Cerebellar vermis hypoplasia, Unsteady gait, Dysmetria, Gait ataxia, Nonprogressive cer...	ORPHA:453521
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C...	OMIM:619302
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology	ORPHA:2291
Microphthalmia, Isolated, With Coloboma 4	Coloboma	OMIM:251505
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Agenesis o...	OMIM:620200
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po...	ORPHA:250972
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Spastic Paraplegia 2, X-Linked	Abnormal cerebellum morphology, Spinocerebellar tract degeneration, Degeneration of the lateral c...	OMIM:312920
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum	OMIM:166990
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Inability to walk, Unst...	OMIM:620317
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Inability to walk, Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Gerstmann-Straussler-Scheinker Syndrome	Abnormal cerebellum morphology, Abnormal pyramidal tract morphology	ORPHA:356
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Gait ataxia	OMIM:616540
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Sp...	OMIM:604360
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ...	ORPHA:300570
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Agenesis of corpus callosum	OMIM:605899
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Dysplastic c...	OMIM:618276
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:616570
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of ...	ORPHA:255138
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral...	ORPHA:166024
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:85179
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Foxg1 Syndrome	Dystonia, Abnormal repetitive mannerisms, Inability to walk, Stereotypical hand wringing, Choreoa...	ORPHA:561854
Microphthalmia, Isolated, With Coloboma 6	Coloboma	OMIM:613703
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum, Aggressive behavior	OMIM:619548
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Iris coloboma, Chorioretinal coloboma, Cleft upper lip	OMIM:120433
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Stxbp1-Related Encephalopathy	Hyperactivity, Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Inabili...	ORPHA:599373
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Simplified gyra...	OMIM:613153
Glutathionuria	Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Microphthalmia, Isolated 4	Coloboma	OMIM:613094
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ...	OMIM:218670
Microhydranencephaly	Microcephaly, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pac...	OMIM:605013
Masa Syndrome	Agenesis of corpus callosum, Shuffling gait, Microcephaly	OMIM:303350
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum...	OMIM:616171
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
2Q24 Microdeletion Syndrome	Coloboma, Abnormal oral frenulum morphology, Short philtrum, Cleft palate	ORPHA:1617
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Aplasia/Hypoplasia of the pyramidal tract	OMIM:619602
Adult Krabbe Disease	Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal pyramidal tract mor...	ORPHA:206448
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro...	OMIM:615095
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus cal...	ORPHA:1528
Autosomal Dominant Spastic Paraplegia Type 41	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:320355
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum	OMIM:619466
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Microcephaly, Inability to walk, Partial agenesis of the corpus callosum, Cerebellar glio...	ORPHA:79243
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Abnormal pyramidal tract morphology	ORPHA:83629
Glycosylphosphatidylinositol Biosynthesis Defect 17	Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly	OMIM:618010
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:304100
Mitochondrial Complex I Deficiency, Nuclear Type 16	Choreoathetosis, Caudate atrophy, Agenesis of corpus callosum, Dystonia	OMIM:618238
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum	OMIM:613162
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Generalized dystonia, Inability to walk, Partial agenesis of the corpus callosum, Opisthotonus, C...	OMIM:619653
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callosum, ...	OMIM:616342
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum, Dysphagia	OMIM:619083
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Truncal ataxia, Agenesis of corpus callosum	OMIM:250620
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency	OMIM:617732
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia...	OMIM:616819
Abruzzo-Erickson Syndrome	Cleft palate, Coloboma, Chorioretinal coloboma, Iris coloboma, Abnormal palate morphology	ORPHA:921
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum p...	OMIM:307000
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly	OMIM:618766
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Unsteady gait, Dystonia	OMIM:245349
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma	OMIM:618295
Band Heterotopia	Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr...	OMIM:600348
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Dystonia, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, ...	OMIM:617669
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy	OMIM:551500
Autosomal Dominant Spastic Paraplegia Type 42	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:171863
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Dystonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the opti...	ORPHA:500144
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation...	OMIM:619517
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Tremor, Cerebral atrophy, Basal ganglia cysts, Choreoathetosis, Dystonia, Episodic ...	OMIM:312170
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Dysphagi...	ORPHA:89844
Autosomal Dominant Spastic Paraplegia Type 37	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:171612
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Nonprogressive cerebellar ataxia, Primary microcephal...	ORPHA:466688
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencepha...	OMIM:614833
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Coloboma, Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip	OMIM:601357
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, Median cleft lip, High palate, Iris coloboma	OMIM:155145
Autosomal Recessive Primary Microcephaly	Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly	ORPHA:2512
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Agenesis of corpus callosum, Aggressive behavior, Microcephaly	OMIM:615286
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Agenesis of corpus callosum, Anencephaly	OMIM:614120
Chiari Malformation Type Ii	Ataxia, Opisthotonus, Chiari malformation, Dysphagia, Agenesis of corpus callosum	OMIM:207950
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel...	OMIM:600118
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pa...	ORPHA:168486
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral patte...	OMIM:616212
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agene...	OMIM:618736
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dy...	ORPHA:2524
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate	OMIM:258320
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Orofacial cleft	ORPHA:324416
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Microceph...	ORPHA:370959
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Fg Syndrome 3	Chiari type I malformation, Hyperactivity, Agenesis of corpus callosum	OMIM:300406
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Iris coloboma	OMIM:610023
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Agenesis of corpus callosum	OMIM:610498
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Poly...	OMIM:225790
Coach Syndrome 2	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri...	OMIM:607196
Autosomal Dominant Spastic Paraplegia Type 8	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:100989
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi...	OMIM:618779
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Autosomal Dominant Spastic Paraplegia Type 19	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:100999
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co...	OMIM:620316
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Adducted Thumbs Syndrome	High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate	OMIM:201550
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Abnormal globus pallidus morphology, Agenesis of corpus callosum, Hypoplasia of the corpus callos...	OMIM:618603
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Spastic Paraplegia 8, Autosomal Dominant	Degeneration of the lateral corticospinal tracts	OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant	Degeneration of the lateral corticospinal tracts	OMIM:600363
4Q21 Microdeletion Syndrome	Tremor, Self-injurious behavior, Agenesis of corpus callosum, Cerebellar hypoplasia, Abnormal rep...	ORPHA:238750
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Long philtrum	OMIM:614583
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2182
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:164180
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Agenesis of corpus callosum, Athetosis, Cerebel...	OMIM:619435
Autosomal Dominant Spastic Paraplegia Type 38	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:171617
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Aggressive behavior, Inability to walk, Hypoplasia of the brainstem, Global brain atrophy...	ORPHA:481152
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Holoprosencephaly 11	Agenesis of corpus callosum, Microcephaly	OMIM:614226
Spastic Paraplegia 3, Autosomal Dominant	Degeneration of the lateral corticospinal tracts	OMIM:182600
Joubert Syndrome 18	Molar tooth sign on MRI, Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Dand...	OMIM:616602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hy...	OMIM:615249
Septooptic Dysplasia	Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Hogue-Janssen Syndrome 2	Microcephaly, Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corp...	OMIM:616362
Autosomal Dominant Spastic Paraplegia Type 73	Degeneration of the lateral corticospinal tracts	ORPHA:444099
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Microcephaly, Impaired pain sensation, Gait ataxia, Inappropriate behav...	ORPHA:1446
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma...	ORPHA:275872
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Agen...	OMIM:619320
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Frontonasal Dysplasia 1	Coloboma, Median cleft lip, Median cleft palate, Widely-spaced maxillary central incisors	OMIM:136760
7Q31 Microdeletion Syndrome	Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys...	ORPHA:251061
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tremor, Inability to walk, Diffuse white matter abnormalities, Limb tremor, Agenesis of corpus ca...	OMIM:218000
Linear Skin Defects With Multiple Congenital Anomalies 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Marcus-Gunn Syndrome	Coloboma, Cleft lip, Cleft palate	ORPHA:91412
Biemond Syndrome Type 2	Coloboma	ORPHA:141333
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Molar tooth sign on MRI, Polymicr...	ORPHA:220497
Solitary Median Maxillary Central Incisor	Cleft upper lip, Prominent median palatal raphe, Coloboma, Torus palatinus, Solitary median maxil...	OMIM:147250
Branchio-Oculo-Facial Syndrome	Deep philtrum, Non-midline cleft lip, Orofacial cleft, Coloboma, Tooth agenesis, High palate, Eve...	ORPHA:1297
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Ataxia, Chiari type I malformation, Inappropriate laughter, Difficulty wa...	OMIM:618476
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Attention deficit hyperactivity disorder	OMIM:615433
Spastic Paraplegia 4, Autosomal Dominant	Degeneration of the lateral corticospinal tracts	OMIM:182601
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Intellectual Developmental Disorder, Autosomal Recessive 65	Aggressive behavior, Partial agenesis of the corpus callosum, Unsteady gait, Gait ataxia, Hypopla...	OMIM:618109
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Opisthotonus, Colpocephaly, Secondary microcephaly, Choking...	OMIM:620352
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	ORPHA:380
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at...	OMIM:619244
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Open mouth	OMIM:616789
Craniofacial Dyssynostosis With Short Stature	Chiari type I malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:218350
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Subependymal Nodular Heterotopia	Partial agenesis of the corpus callosum, Focal cortical dysplasia, Acroparesthesia, Polymicrogyria	ORPHA:101030
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Birk-Barel Syndrome	Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula	OMIM:612292
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebell...	OMIM:214150
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m...	OMIM:620107
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:251056
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Molar tooth sign on MRI, Polymicr...	ORPHA:220493
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:616975
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Microcephaly, Tremor, Agenesis of corpus callosum, Gait...	OMIM:619312
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Cleft palate, Coloboma, Long philtrum	OMIM:615583
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Birk-Landau-Perez Syndrome	Microcephaly, Limb ataxia, Choreoathetosis, Difficulty walking, Dystonia, Pachygyria, Agenesis of...	OMIM:617595
15Q24 Microdeletion Syndrome	Smooth philtrum, Abnormality of the dentition, Thick lower lip vermilion, Coloboma, Long philtrum...	ORPHA:94065
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Cerebral atrophy, Colpocephaly, Hypoplasia ...	OMIM:620156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Hypoplasia of the pyramidal tract, Pachygyria, Hypoplasia of the br...	OMIM:253800
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Narp Syndrome	Corticospinal tract atrophy	ORPHA:644
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Anal atresia	OMIM:619318
Joubert Syndrome 16	Coloboma	OMIM:614465
Spastic Paraplegia 7, Autosomal Recessive	Cerebellar atrophy, Degeneration of the lateral corticospinal tracts	OMIM:607259
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia	OMIM:619074
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Microcephaly	OMIM:618346
Autosomal Dominant Spastic Paraplegia Type 12	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:100993
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Aggressive behavior, Dysplastic corpus...	ORPHA:488627
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ...	ORPHA:2712
Brain-Lung-Thyroid Syndrome	Hyperactivity, Ataxia, Microcephaly, Abnormal eating behavior, Chorea, Abnormal drinking behavior...	ORPHA:209905
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Dystonia, Ataxia, Anorexia, Tremor, Cerebellar gliosis, Periventri...	ORPHA:3008
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Abnormal dentate nucleus morphol...	ORPHA:506
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment	OMIM:601369
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Cree Mental Retardation Syndrome	Coloboma, Cleft soft palate	OMIM:606851
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Secondary microcephaly, Hypoplasia of ...	OMIM:620073
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Aplasia/Hypoplasia of th...	ORPHA:3157
Temtamy Syndrome	Self-mutilation, Agenesis of corpus callosum, Thick corpus callosum	OMIM:218340
Acrocallosal Syndrome	Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi...	OMIM:200990
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious be...	ORPHA:314679
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Exaggerated cupid's bow, Wide mouth, Coloboma, Narrow mouth, Smooth philtrum, Long philtrum	OMIM:618659
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum, Inappr...	OMIM:615802
Ritscher-Schinzel Syndrome 1	Coloboma, Anal atresia, Cleft palate	OMIM:220210
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Coloboma, Smooth philtrum	OMIM:618652
Vici Syndrome	Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr...	ORPHA:1493
Chromosome 5P13 Duplication Syndrome	Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus callosum, Compulsive ...	OMIM:613174
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:521308
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Coloboma, Thin vermilion border, Gingival overgrowth, Long philtrum	ORPHA:464288
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Chiari type I malformation, Cerebral c...	OMIM:619720
Brain Malformations With Or Without Urinary Tract Defects	Chiari type I malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:613735
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microcephaly, Partial absence of cerebellar vermis, Hypoplasia of the brainstem, Cerebellar hypop...	OMIM:613150
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Smooth philtrum	OMIM:614526
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Macrogyria, Lisse...	ORPHA:899
Joubert Syndrome 15	Coloboma	OMIM:614464
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta...	OMIM:616331
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	OMIM:175700
Stevenson-Carey Syndrome	Downturned corners of mouth, Coloboma, Pierre-Robin sequence, Narrow mouth	OMIM:611961
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Lissencephaly, Microcephaly	ORPHA:99742
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula	OMIM:601492
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Polymicrogyria,...	OMIM:619775
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms, Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Gait disturbance, Hypoplasia of th...	ORPHA:363528
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia	ORPHA:3201
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Agenesis of corpus callosum, Microcephaly	ORPHA:452
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Diastema, Downturned corners of mouth, Coloboma, Wide mouth, Smooth phi...	ORPHA:329224
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal repeti...	ORPHA:468631
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Chiari malformation...	OMIM:609053
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula	OMIM:619239
Microphthalmia, Syndromic 5	Coloboma, Cleft palate	OMIM:610125
Alexander Disease	Cerebral calcification, Ataxia, Megalencephaly, Tremor, Aqueductal stenosis, Chorea, Self-injurio...	ORPHA:58
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Dystonia, Age...	OMIM:614924
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aggressive behavior	OMIM:620250
Joubert Syndrome 22	Coloboma	OMIM:615665
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Attention d...	ORPHA:459061
Apert Syndrome	Conductive hearing impairment, Agenesis of corpus callosum, Sensorineural hearing impairment, Abn...	ORPHA:87
Intellectual Developmental Disorder, Autosomal Dominant 22	Agenesis of corpus callosum, Bruxism, Stereotypical hand wringing, Microcephaly	OMIM:612337
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation, Tip-toe ...	OMIM:617296
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Dental crowding, Abnormality of the dentition, Narrow mouth,...	ORPHA:251028
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the corpus callosum,...	OMIM:613001
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Nizon-Isidor Syndrome	Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Hypoplasia of the corpus c...	OMIM:618872
Joubert Syndrome 14	Tented upper lip vermilion, Cleft palate, Coloboma, Short philtrum, Open mouth	OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Partial agenesis of the corpus callosu...	OMIM:614643
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:990
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m...	OMIM:618529
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618619
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the brains...	OMIM:236670
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Self-injurious behavior, Attention deficit hyperactivity disorder, Agenesis of corpus callosum, I...	OMIM:618929
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Pica, Small cerebral cortex, Hypoplasia of the corpus callosum, Periventricular leu...	OMIM:617360
Baraitser-Winter Syndrome 1	Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly	OMIM:243310
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Branchiootorenal Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:113650
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Agenesis of corpus callosum	OMIM:109120
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Srd5A3-Cdg	Coloboma, Oligodontia	ORPHA:324737
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Microcephaly, Aqueductal stenosis, Abnormal repetitive mannerisms, Partial agenesi...	OMIM:619512
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Submucous cleft hard palate	OMIM:609166
Emanuel Syndrome	Microcephaly, Cerebral atrophy, Abnormal cerebral white matter morphology, Chiari malformation, D...	ORPHA:96170
Adrenomyeloneuropathy	Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology, Atrophy/...	ORPHA:139399
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Microcephaly, Hypoplasia of olfactory tract, Agenesis of corpus cal...	ORPHA:314621
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Coloboma, Odontogenic keratocysts of the jaw	ORPHA:199276
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Microcephaly	OMIM:300004
Hydrolethalus	Anencephaly, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:301056
Halperin-Birk Syndrome	Inability to walk, Pseudobulbar paralysis, Agenesis of corpus callosum, Colpocephaly	OMIM:618651
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate	ORPHA:166016
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Gait disturbance	ORPHA:1812
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Stillbirth, Cerebellar hypopl...	OMIM:243605
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Abnormal repetitiv...	ORPHA:261552
Buratti-Harel Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula	OMIM:619314
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Aggressive behavior, Inability to walk, Cerebral atrophy, Lateral ventricle dilatat...	ORPHA:464738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Absent septum pellucidum, Cortical dysplasia, Anencephaly, Abnorma...	OMIM:615287
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cleft palate, Furrowed tongue, Downturned corners of mouth, Coloboma, Oligodontia, Macroglossia, ...	ORPHA:453499
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Agenesis of corpus callosum, Compulsive behaviors, Aggressive behavior	OMIM:309520
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Agnathia-Otocephaly Complex	Agenesis of corpus callosum	OMIM:202650
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v...	OMIM:618106
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene...	OMIM:616449
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Abnormal basal ganglia morphology, Pachygyr...	ORPHA:157
Immunodeficiency 49	Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
2Q31.1 Microdeletion Syndrome	Deep philtrum, Optic disc coloboma, Cleft palate, Downturned corners of mouth, Coloboma, Thin ver...	ORPHA:251014
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Microcephaly, Tongue thrusting, Self-injurious behavior, Stereotypical body rockin...	ORPHA:261323
Schilbach-Rott Syndrome	Submucous cleft hard palate, Bifid uvula, Narrow mouth	OMIM:164220
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Simplified gyral pattern, Colpocephaly, Lissencephaly, Agenesis of corpus callosum	OMIM:615219
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop...	ORPHA:96147
Acromelic Frontonasal Dysplasia	Retrocerebellar cyst, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb	ORPHA:1827
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Trisomy 1Q	Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li...	ORPHA:1071
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Agenesis of corpus ...	ORPHA:96092
Chromosome 13Q33-Q34 Deletion Syndrome	Hyperactivity, Aggressive behavior, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy...	OMIM:619148
Chromosome 6Pter-P24 Deletion Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Nasopalpebral Lipoma-Coloboma Syndrome	Coloboma	OMIM:167730
1Q44 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:238769
16P13.11 Microdeletion Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Compulsive behaviors, Microcephaly	ORPHA:261236
Smith-Magenis Syndrome	Corticospinal tract hypoplasia	ORPHA:819
Curry-Jones Syndrome	Megalencephaly, Hemimegalencephaly, Chiari type I malformation, Polymicrogyria, Agenesis of corpu...	OMIM:601707
Fumarase Deficiency	Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Polymicrogyria, Agene...	OMIM:606812
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dysphagia, Microcephaly	OMIM:300000
Congenital Disorder Of Glycosylation, Type Iq	Coloboma	OMIM:612379
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h...	OMIM:614701
Cutis Laxa, Autosomal Recessive, Type Iib	Agenesis of corpus callosum, Microcephaly	OMIM:612940
Arthrogryposis, Distal, Type 3	Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate	OMIM:114300
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Macrogyria, Lisse...	ORPHA:35107
Kleefstra Syndrome	Microcephaly, Aggressive behavior, Agenesis of corpus callosum, Self-injurious behavior, Cerebral...	ORPHA:261494
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Toriello-Carey Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus...	ORPHA:3338
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Coloboma, High palate	OMIM:603457
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:605039
W Syndrome	Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Coach Syndrome 1	Wide mouth, Coloboma, Esophageal varix	OMIM:216360
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:563612
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:612863
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip	OMIM:619122
Distal Deletion 10Q	Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, Protrudi...	ORPHA:96148
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Cleft palate	ORPHA:250999
Chromosome 14Q11-Q22 Deletion Syndrome	Microcephaly, Inability to walk, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpu...	OMIM:613457
Autosomal Dominant Keratitis	Aniridia, Coloboma	ORPHA:2334
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Agenesis of corpus callosum	OMIM:618733
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha...	ORPHA:2751
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi...	ORPHA:352665
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus...	OMIM:615582
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Macrogyria, Athetosis, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agene...	OMIM:614866
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Retrocerebellar cyst, Hypoplasia of th...	OMIM:603671
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Agenesis of corpus callosum	ORPHA:77298
Mosaic Variegated Aneuploidy Syndrome 1	Microcephaly, Hypodysplasia of the corpus callosum, Cerebral hypoplasia, Cerebellar hypoplasia, A...	OMIM:257300
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the corpus ...	ORPHA:457284
Pseudotrisomy 13 Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:264480
Melas	Ataxia, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Gait distur...	ORPHA:550
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Orofaciodigital Syndrome Type 10	Cleft soft palate, Accessory oral frenulum, Long philtrum	ORPHA:2756
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Kabuki Syndrome	Abnormal dental morphology, Lip pit, Abnormality of the dentition, Orofacial cleft, Cleft palate,...	ORPHA:2322
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ...	OMIM:117650
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ...	OMIM:608836
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:617260
Sotos Syndrome	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Attention deficit hyperactivity...	OMIM:117550
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Bifid ...	ORPHA:2780
Orofaciodigital Syndrome V	Overfriendliness, Agenesis of corpus callosum, Microcephaly	OMIM:174300
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Agenesis of corpus callosum	ORPHA:3301
Holoprosencephaly 14	Cerebellar atrophy, Absent septum pellucidum, Microcephaly, Aqueductal stenosis, Partial agenesis...	OMIM:619895
Monosomy 13Q34	Agenesis of corpus callosum, Microcephaly	ORPHA:96168
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Molar tooth sign on MRI, Polymicrogyria, Agenes...	OMIM:277170
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th...	OMIM:620305
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Short philtrum, Cleft soft palate, Smooth philtrum	ORPHA:293725
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Stickler Syndrome, Type I	Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence	OMIM:108300
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondar...	OMIM:618820
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Abnormality of dental color	OMIM:163200
Native American Myopathy	Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula	ORPHA:168572
Xp21 Deletion Syndrome	Agenesis of corpus callosum	ORPHA:261476
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Sensorineural hearing impairment, Hypoplasia of the semicirc...	OMIM:609136
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Diffuse cerebella...	ORPHA:33364
Microform Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:280200
8Q22.1 Microdeletion Syndrome	Long philtrum, Submucous cleft hard palate, Abnormality of the dentition	ORPHA:178303
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Coloboma	OMIM:617306
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Anterior Segment Dysgenesis 2	Aniridia, Coloboma	OMIM:610256
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Difficulty walking, Agenesis of corpus callosum, Attention deficit hyperactivity disorder	OMIM:618748
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou...	OMIM:300990
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Hypoplasia of the corpus callosum, Neonatal death, Agenes...	OMIM:618500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:847
Opitz Gbbb Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the corpus callosum, Dys...	ORPHA:2745
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula	ORPHA:69085
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ...	OMIM:619950
Endocrine-Cerebroosteodysplasia	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Absent septum pellucidum, Foca...	OMIM:612651
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:85201
Holoprosencephaly 13, X-Linked	Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in...	OMIM:301043
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
1Q21.1 Microdeletion Syndrome	Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:250989
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Cleft lip, Pyloric stenosis, Tracheoesophageal fistula...	ORPHA:1199
Gabriele-De Vries Syndrome	Waddling gait, Dystonia, Oral-pharyngeal dysphagia, Tremor, Abnormal cerebral white matter morpho...	ORPHA:506358
Coffin-Siris Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Simplified gyral pattern, Oral aversion, Agenes...	ORPHA:1465
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate	OMIM:619680
Double Outlet Right Ventricle	Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth	ORPHA:3426
Semilobar Holoprosencephaly	Limb dystonia, Microcephaly, Inability to walk, Abnormal brainstem morphology, Attention deficit ...	ORPHA:220386
Alobar Holoprosencephaly	Limb dystonia, Microcephaly, Inability to walk, Abnormal brainstem morphology, Attention deficit ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Limb dystonia, Microcephaly, Inability to walk, Abnormal brainstem morphology, Attention deficit ...	ORPHA:93926
Lobar Holoprosencephaly	Limb dystonia, Microcephaly, Inability to walk, Abnormal brainstem morphology, Attention deficit ...	ORPHA:93924
Fryns Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation	ORPHA:2059
Noonan Syndrome	Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin...	ORPHA:648
Beare-Stevenson Cutis Gyrata Syndrome	Chiari malformation, Agenesis of corpus callosum	OMIM:123790
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Dysphagia, Agenesis of corpus callosum	OMIM:242840
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Cerebellar hypoplasia, Attention deficit hyperactivity di...	ORPHA:2461
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum, Cerebellar cyst	OMIM:613091
Thakker-Donnai Syndrome	Agenesis of corpus callosum	ORPHA:1780
Rhizomelic Chondrodysplasia Punctata, Type 2	Submucous cleft hard palate, High palate	OMIM:222765
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Chiari type I malformation, Cerebellar hypoplasia, Agen...	OMIM:101200
Monosomy 22Q13.3	Hyperactivity, Impaired pain sensation, Hair-pulling, Bruxism, Agenesis of corpus callosum, Cereb...	ORPHA:48652
Bohring-Opitz Syndrome	Microcephaly, Inability to walk, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ...	ORPHA:97297
Treacher Collins Syndrome 1	Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth	OMIM:154500
Charge Syndrome	Low-set, posteriorly rotated ears, External ear malformation, Abnormality of the inner ear, Aplas...	ORPHA:138
Aicardi Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Lateral vent...	OMIM:304050
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula	OMIM:617660
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Desmosterolosis	Partial agenesis of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	OMIM:602398
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Myhre Syndrome	Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormal lip morphology, Thin vermilio...	ORPHA:2588
15Q Overgrowth Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft lip and pal...	OMIM:157170
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Long philtrum	ORPHA:457279
Nasopalpebral Lipoma-Coloboma Syndrome	Coloboma	ORPHA:2399
Acro-Renal-Ocular Syndrome	Aganglionic megacolon, Optic disc coloboma, Coloboma, Chorioretinal coloboma, Iris coloboma	ORPHA:959
Marshall-Smith Syndrome	Absent septum pellucidum, Optic nerve hypoplasia, Cerebral atrophy, Macrogyria, Cerebellar hypopl...	OMIM:602535
Orofaciodigital Syndrome Type 1	Ataxia, Tremor, Dystonia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Fanconi Anemia, Complementation Group D2	Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Hypoplasia of the corpus c...	OMIM:227646
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Agenesis of corpu...	OMIM:311200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Cleft soft palate	ORPHA:2282
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia	OMIM:619227
Orofaciodigital Syndrome Type 4	Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv...	ORPHA:2753
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Cleft palate, Coloboma, High palate, Short philtrum, Narro...	OMIM:309500
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Coloboma, Long philtrum	OMIM:615877
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O...	OMIM:192430
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callo...	ORPHA:508498
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Coloboma, Thick vermilion border, Retinal coloboma	OMIM:617107
Linear Skin Defects With Multiple Congenital Anomalies 1	Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	OMIM:309801
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Cerebellar vermis hypoplasia, Microcephaly, Tremor, Partial agenesis of the cor...	OMIM:220111
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Dubowitz Syndrome	Delayed eruption of teeth, Carious teeth, Velopharyngeal insufficiency, Submucous cleft hard pala...	OMIM:223370
Microphthalmia, Syndromic 3	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:206900
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Meckel Syndrome, Type 1	Dilated fourth ventricle, Microcephaly, Anencephaly, Chiari malformation, Cerebellar hypoplasia, ...	OMIM:249000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, High, narrow palate, Short uvula, Broad philtrum, Coloboma, Short philt...	OMIM:619475
Pancreatic Agenesis-Holoprosencephaly Syndrome	Agenesis of corpus callosum	ORPHA:556955
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:151050
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach...	ORPHA:50
Mycophenolate Mofetil Embryopathy	Agenesis of corpus callosum	ORPHA:268249
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th...	ORPHA:434179
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619418
Branchioskeletogenital Syndrome	Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate...	ORPHA:1299
Meier-Gorlin Syndrome 5	Submucous cleft hard palate, Thick vermilion border, Long philtrum	OMIM:613805
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc...	OMIM:115150
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Ataxia, Microcephaly	ORPHA:280
Neu-Laxova Syndrome	Abnormality of the philtrum, Submucous cleft hard palate, Cleft palate, Thick vermilion border, E...	ORPHA:2671
Holoprosencephaly 7	Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Agenesis of corpus callosum...	OMIM:610828
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma, Protein-losing enteropathy	OMIM:618183
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Attention deficit hyperactivity disorder	OMIM:305450
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:615948
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Dental crowding, High, narrow palate, Talon cusp, Dental malocclusion, ...	OMIM:180849
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Histiocytoid Cardiomyopathy	Cerebellar malformation, Agenesis of corpus callosum	ORPHA:137675
Koolen-De Vries Syndrome Due To A Point Mutation	Microcephaly, Chiari type I malformation, Inappropriate laughter, Attention deficit hyperactivity...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Microcephaly, Chiari type I malformation, Inappropriate laughter, Attention deficit hyperactivity...	ORPHA:363958
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, Aggressive behavior, Limb trem...	OMIM:619841
Fryns Syndrome	Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory tract, Agenesis of corpus call...	OMIM:229850
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Microcephaly, Aggressive behavior, P...	OMIM:270400
Neu-Laxova Syndrome 1	Stillbirth, Lissencephaly, Neonatal death, Cerebellar hypoplasia, Primary microcephaly, Hydranenc...	OMIM:256520
1P36 Deletion Syndrome	Microcephaly, Abnormal repetitive mannerisms, Polyphagia, Self-injurious behavior, Gait disturban...	ORPHA:1606
Phakomatosis Pigmentokeratotica	Coloboma	ORPHA:2874
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Jacobsen Syndrome	Attention deficit hyperactivity disorder, Pachygyria, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:2308
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Trisomy 8P	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ...	OMIM:301068
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal cerebellum morphology, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Pachygyria, Aggressive behavior, Self-mutilation, Polyphagia, Leukoencephalopathy, ...	OMIM:607872
Chromosome 13Q14 Deletion Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum	OMIM:613884
Holoprosencephaly 1	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:236100
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Agenesis of corpus...	OMIM:236680
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Iris coloboma	ORPHA:268261
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c...	ORPHA:353281
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Coloboma	ORPHA:85167
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Abnormal repetitiv...	ORPHA:261537
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth, Short philtrum, Narrow mou...	OMIM:300967
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum	OMIM:619321
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate	OMIM:614557
Dubowitz Syndrome	Delayed eruption of teeth, Anal stenosis, Abnormality of the dentition, Malabsorption, Rectal pro...	ORPHA:235
Ear-Patella-Short Stature Syndrome	High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Narrow mo...	ORPHA:2554
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619480
Monosomy 9P	Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Charge Syndrome	Mixed hearing impairment, Aplasia of the semicircular canal, Sensorineural hearing impairment, Cu...	OMIM:214800
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Diamond-Blackfan Anemia	Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon	ORPHA:124
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Lenz-Majewski Hyperostotic Dwarfism	Abnormal dental enamel morphology, High, narrow palate, Submucous cleft hard palate, Cleft palate...	ORPHA:2658
Wiedemann-Rautenstrauch Syndrome	Dysphagia, Chiari malformation, Truncal ataxia, Agenesis of corpus callosum, Dandy-Walker malform...	OMIM:264090
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Williams Syndrome	Atrophy/Degeneration involving the corticospinal tracts, Spina bifida occulta, Chiari malformation	ORPHA:904
Hartsfield Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:615465
Distal Renal Tubular Acidosis	Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct	ORPHA:18
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Remnants of the hyaloid vascular system, Persistence of primary teeth,...	OMIM:300166
Cardiofaciocutaneous Syndrome	Submucous cleft hard palate, High palate, Long philtrum	ORPHA:1340
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum	OMIM:300373
Holoprosencephaly 9	Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Abnormal cortical gyration, Micr...	OMIM:610829
Mowat-Wilson Syndrome	Focal cortical dysplasia, Broad-based gait, Agenesis of cerebellar vermis, Ataxia, Cerebellar ver...	ORPHA:2152
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere...	ORPHA:2273
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c...	ORPHA:353277
Zttk Syndrome	Abnormality of the dentition, Submucous cleft hard palate, Downturned corners of mouth, Thin verm...	OMIM:617140
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Deep phi...	OMIM:619503
Degcags Syndrome	Oral-pharyngeal dysphagia, Choking episodes, Agenesis of corpus callosum, Microcephaly	OMIM:619488
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Abnormal repetitive mannerisms, Periventricular cysts, Ca...	OMIM:194190
Coffin-Siris Syndrome 1	Aggressive behavior, Microcephaly, Partial agenesis of the corpus callosum, Gait ataxia, Compulsi...	OMIM:135900
Simpson-Golabi-Behmel Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Wiedemann-Rautenstrauch Syndrome	Ataxia, Tremor, Chiari type I malformation, Cerebellar hypoplasia, Truncal ataxia, Polymicrogyria...	ORPHA:3455
Neuroocular Syndrome	Remnants of the hyaloid vascular system, Short uvula, Lens coloboma, Submucous cleft hard palate,...	OMIM:619539
Microphthalmia, Syndromic 6	Cleft palate, Coloboma, High palate, Microglossia, Bifid uvula	OMIM:607932
Proximal Renal Tubular Acidosis	Coloboma, Enamel hypomineralization, Malabsorption	ORPHA:47159
Yunis-Varon Syndrome	Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary microcephaly, Pachygyria, Agenesi...	ORPHA:3472
Microphthalmia With Linear Skin Defects Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2556
Viss Syndrome	Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa...	OMIM:619472
Tolchin-Le Caignec Syndrome	Submucous cleft hard palate, High palate, Narrow mouth	OMIM:618971
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
Baller-Gerold Syndrome	Polymicrogyria, Agenesis of corpus callosum, Optic nerve hypoplasia, Chiari malformation	OMIM:218600
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:95494
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate	OMIM:618891
Campomelic Dysplasia	Irregular dentition, Carious teeth, Submucous cleft hard palate, Cleft palate, High palate, Narro...	OMIM:114290
Focal Dermal Hypoplasia	Chiari malformation, Agenesis of corpus callosum, Microcephaly	OMIM:305600
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic...	OMIM:157800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Coloboma, Everted lower lip vermilion	OMIM:253280
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Cleft palate, Downturned corners of mouth, Thin vermilion border, Short philtrum, Submucous cleft...	ORPHA:500150
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
Roberts-Sc Phocomelia Syndrome	Coloboma, High palate, Cleft palate, Cleft upper lip	OMIM:268300
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Neoplasm of the tongue, Submucous cleft hard palate, Bifid uvula	ORPHA:3047
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Submucous cleft hard palate, Thick vermilion border, Bifid uvula, Cleft palate	ORPHA:2636
Peters-Plus Syndrome	Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:261540
Townes-Brocks Syndrome	Chiari malformation, Agenesis of corpus callosum	ORPHA:857
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:312870
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the frontal lobes, Hypoplasia of the co...	OMIM:216340
Coffin-Siris Syndrome 12	Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate	OMIM:619325
Biliary, Renal, Neurologic, And Skeletal Syndrome	Coloboma, Everted lower lip vermilion, Esophageal varix	OMIM:619534
Restrictive Dermopathy	Natal tooth, Submucous cleft hard palate, Microcolon, Narrow mouth	ORPHA:1662
Restrictive Dermopathy 1	Natal tooth, Submucous cleft hard palate, Narrow mouth	OMIM:275210
Craniofacial Microsomia 1	Chiari malformation, Agenesis of corpus callosum	OMIM:164210
Mirror Movements 4		OMIM:618264

Histopathology

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

There is no histopathology data for Ntn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ntn1.

No publications found that use IMPC mice or data for Ntn1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ntn1^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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