Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger protein of the cerebellum 5
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Zic5 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 Zic5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Death in infancy, Cerebellar hypoplasia, Microcephaly, Cerebral hypo... OMIM:618266
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Cortical dysplasia, Microphth... OMIM:615771
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla, Drooling, Ventriculomegaly, Ataxia, Microcephaly OMIM:618383
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Hydrocephalus, Aplasia/Hypoplasia of the cerebellar vermis, Macrocephaly,... OMIM:300864
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Iris coloboma, Small cerebral cortex, Macular hypoplasia, Abnorm... ORPHA:2185
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Optic nerve hypoplasia, Spina bifida occulta, Microcephaly, Agene... OMIM:618736
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles ORPHA:101071
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia, Dilation of lateral vent... OMIM:618890
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Hypoplasia of the corpus callosum, Ventriculomegaly, Thick upper lip ... OMIM:617616
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Bilateral microphthalmos, Microcephaly, Diffuse cerebral atrophy, Dilati... ORPHA:77299
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral c... OMIM:619072
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, ... OMIM:618709
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Cerebral atrophy, Microphthalmia, Simplified gyral pattern, Microcephaly, Optic atr... OMIM:616171
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Cerebral atrophy, Wide mouth, Macrodontia of permane... OMIM:600302
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Microphthalmi... OMIM:611638
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Cerebral atrophy, Microphthalmia, Microcephaly, Optic atrophy, Agenesis of corpus callosum OMIM:274270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Gombo Syndrome
Microcephaly, Microphthalmia OMIM:233270
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly... ORPHA:3207
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Micrognathia, Microphthalmia OMIM:616570
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... ORPHA:401942
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Micro... ORPHA:1528
Hemiparkinsonism-Hemiatrophy Syndrome
Hemiatrophy, Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Small cervical vertebral bodies, Absent septum pellucidum, Ventriculomegaly, Cere... ORPHA:397715
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Type II lissencephaly, Micrognathia, Hypoplasia of the corpus callos... ORPHA:300570
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Dilated f... OMIM:617751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Cerebellar hypoplasia, Microphthalmia, Hydrocephalus OMIM:614830
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Coloboma, Ventriculomegaly, Microphthalmia, Macrocephaly at birth, Hydroce... ORPHA:324416
D-2-Hydroxyglutaric Aciduria 1
Multifocal cerebral white matter abnormalities, Subependymal cysts, Macrocephaly, Micrognathia, D... OMIM:600721
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white matter hypoplasia... ORPHA:284417
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Atypical Teratoid Rhabdoid Tumor
Ataxia, Cerebral calcification, Hydrocephalus ORPHA:99966
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Optic atrophy, Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Leptin Receptor Deficiency
Decreased response to growth hormone stimuation test, Pituitary hypothyroidism, Abnormal hypothal... OMIM:614963
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Optic disc hypoplasia, Hypoplasia of the corpus callosum, Ventriculo... ORPHA:420179
Severe X-Linked Intellectual Disability, Gustavson Type
Micrognathia, Cerebellar hypoplasia, Dilated fourth ventricle, Microcephaly, Optic atrophy, Dandy... ORPHA:3078
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Mandibular prognathia, Umbilical hernia, Lens coloboma, Microp... OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Coloboma, Ventriculomegaly, Abnor... OMIM:613153
Cofs Syndrome
Aplasia/Hypoplasia of the cerebellum, Micrognathia, Death in infancy, Cerebral cortical atrophy, ... ORPHA:1466
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Prominence of the premaxilla, Pachygyria, Choroid plexus c... OMIM:304050
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly, Cerebral calcification, Microcephaly, Micrognathia, Decreased response to growt... ORPHA:1261
Bowen-Conradi Syndrome
Microcephaly, Ventriculomegaly, Micrognathia, Death in infancy ORPHA:1270
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Dan... OMIM:164180
Hydrolethalus
Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Microphthalmia, Anophthalm... ORPHA:2189
16P13.2 Microdeletion Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Small hand, P... ORPHA:500055
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance, Failure to thrive, Microcephaly, Hydrocephalus ORPHA:26
Pineocytoma
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Enlarged sylvian cistern, Micrognathia, Hypoplasia of the corpus call... OMIM:600118
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia, Holoprosencephaly, Microphthalmia, Anophthalmia, Microcephaly, Anterior hypop... OMIM:147250
Dystonia 30
Hypothalamic hamartoma, Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility... OMIM:619291
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Agenesis of corpus callosum, Typ... ORPHA:370959
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism... ORPHA:54595
Walker-Warburg Syndrome
Macrocephaly, Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly... ORPHA:899
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Mandibular prognathia, Wide mouth, Thick vermilion border, Abnorma... OMIM:304340
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia OMIM:203450
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Mandibular prognathia, Cerebral atrop... ORPHA:464738
Periventricular Nodular Heterotopia 7
Micrognathia, Hypoplasia of the corpus callosum, Optic atrophy, Cortical dysplasia OMIM:617201
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogy... ORPHA:250972
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Mandibular prognathia, Dilation of lateral ventricles ORPHA:85290
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Cach Syndrome
T2 hypointense thalamus, Progressive macrocephaly, Cerebral atrophy, Microcephaly, Optic atrophy,... ORPHA:135
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Abnormal motor neuron morphology, Leukoencephalopathy OMIM:613724
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephal... ORPHA:2570
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Liang-Wang Syndrome
Macroglossia, Dystonia, Downturned corners of mouth, Everted lower lip vermilion, Cerebral atroph... OMIM:618729
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
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal death, Dilation of lateral ventri... OMIM:610015
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Focal T2 hyperintense thalamic lesion, Cerebral atrophy OMIM:619057
Alg13-Cdg
Abnormal lateral ventricle morphology, Global brain atrophy ORPHA:324422
Holoprosencephaly 9
Panhypopituitarism, Hypoplasia of the premaxilla, Short philtrum, Hypoplasia of the maxilla, Holo... OMIM:610829
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Forearm undergrowth, Absent radius, Absent thumb, Hydrocephalus, Dilation of la... OMIM:602200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Baraitser-Winter Syndrome 2
Pachygyria, Coloboma, Ventriculomegaly, Microphthalmia, Secondary microcephaly, Retrognathia, Age... OMIM:614583
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Fried Syndrome
Short philtrum, Gait disturbance, Cerebral calcification, High palate, Hydrocephalus ORPHA:85335
Mmep Syndrome
Microcephaly, Mandibular prognathia, Microphthalmia ORPHA:3434
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microcephaly, Microphthalmia, Micromelia ORPHA:291
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Microce... OMIM:618606
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Hypothalamic hamartoma, Coloboma, Hypoplasia of the corpus callosum, Anteri... OMIM:206900
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Microph... OMIM:218670
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Iris coloboma, Microphthalmia, Anophthalmia, 11 pairs of ribs, ... ORPHA:77298
Dandy-Walker Syndrome
Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Truncal ataxia, Hydroceph... OMIM:220200
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Iris coloboma, Macular hypoplasia, Simplified gyra... OMIM:615219
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Retrognathia, Microphthalmia ORPHA:2528
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Adams-Oliver Syndrome 2
Micrognathia, Cerebral atrophy, Cerebellar hypoplasia, Polymicrogyria, Microphthalmia, Macrocepha... OMIM:614219
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Rhombencephalosynapsis
Microretrognathia, Fusion of the left and right thalami, Ventriculomegaly, Aganglionic megacolon,... ORPHA:59315
Meckel Syndrome, Type 8
Microcephaly, Microphthalmia, Anophthalmia OMIM:613885
Paganini-Miozzo Syndrome
Mandibular prognathia, Dilation of lateral ventricles OMIM:301025
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ventriculomegaly, Cerebral cortical atrophy, Microphthalmia, Abnormality of peripheral nerve cond... ORPHA:48431
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism, Death in infancy, Short ribs, Macrocephaly, Mic... OMIM:241800
Microcephaly 13, Primary, Autosomal Recessive
Cerebellar hypoplasia, Short foot, Small hand, Simplified gyral pattern, Microcephaly, Micrognath... OMIM:616051
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Hypoplasia of the premaxilla, Median cleft lip a... OMIM:610828
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Hypoplasia of olfactory tra... ORPHA:314621
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Dental crowding, Ventriculomegaly, Aqueductal stenosis, Shovel-shaped maxillar... OMIM:600907
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Progressive macrocephaly, Ventriculomegaly, Megalencephaly, Polymicrogyr... OMIM:602501
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Ventriculomegaly, Anencephaly, Cleft palate, Micrognathia, Hydroceph... OMIM:614120
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly, Agenesis of corpus callosum, Shuffling gait OMIM:303350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar hypoplasia, Polymicrogyria, Optic nerve hypoplasia, Microphthal... OMIM:615181
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Pachygyria, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, Simplified gyral pattern, Mi... OMIM:251270
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthostatic hypotension, Hy... ORPHA:2822
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Frontal cortical atrophy, Micrognathia, Death in infancy, Parietal cortical atrophy, Death in chi... OMIM:618766
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Microphthalmia, Simplified gyral pattern, Microcep... OMIM:617914
Temtamy Syndrome
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Iris coloboma, Microphthalmia,... ORPHA:1777
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla, Gait ataxia, Truncal ataxia, Abnormal cerebral white matter morpholog... OMIM:618587
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Pachygyria, Hypoplasia of the corpus callosum, Smooth philtrum, Subcortical band heterotopia, Thi... OMIM:618737
Developmental And Epileptic Encephalopathy 49
Short philtrum, Open mouth, Ventriculomegaly, Thick upper lip vermilion, Cerebral calcification, ... OMIM:617281
Slc35A2-Cdg
Cerebral white matter atrophy, Aplasia/hypoplasia involving bones of the extremities, Hypoplasia ... ORPHA:356961
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Inferior vermis hypoplasia, Microphthalmia, Anophthalmia, ... ORPHA:139471
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Abnormal cerebral white matter morphology, Mandibular prognathia, High palate,... OMIM:600991
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebral white matter morphology, Optic atrophy, Cerebral atrophy ORPHA:314404
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Gait disturbance, Normal pressure hydrocephalus OMIM:611808
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hydrocephalus, Ventriculomegaly, Hydranencephaly, Microcephaly, Micrognathia, Agenesis ... OMIM:225790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Coloboma, Cerebe... OMIM:615249
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Enamel hypoplasia, Dysplastic corpus callosum, Retrognathia, ... ORPHA:557003
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Trisomy 1Q
Hydrocephalus, Microretrognathia, Ventriculomegaly, Cerebellar hypoplasia, Anophthalmia, Macrocep... ORPHA:261344
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, High palate, Wide mouth, Thin upper lip vermilion, Spastic ... OMIM:249630
Cerebrooculofacioskeletal Syndrome 1
Cerebellar hypoplasia, Death in childhood, Microphthalmia, Microcephaly, Micrognathia, Agenesis o... OMIM:214150
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Toxoplasmosis
Ventriculomegaly, Microphthalmia, Cerebral calcification, Microcephaly, Hydrocephalus ORPHA:858
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Eye of the tiger anomaly of globus pallidus, Abnormality of the tongue, Abnorm... ORPHA:216866
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Microphthalmia, Anophthalmia OMIM:615524
3-Hydroxyisobutyric Aciduria
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly... ORPHA:939
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Micrognathia, Hypoplasia of the corpus callosum, Ventriculomegaly, Death in infancy, Microcephaly... ORPHA:1495
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Prominence of the premaxilla, Open mouth, Deep philtrum, Everted lower lip vermilion OMIM:137550
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Ventriculomegaly, Incisor macrodontia, Cleft ... OMIM:615502
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormal lateral ventricle morphology ORPHA:488635
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ... ORPHA:488627
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Microphthalmia, Anophthalmia OMIM:221950
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Gait disturbance, Ventriculomegaly, Bradykinesia, Weight loss, C... ORPHA:157941
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Bresek Syndrome
Aganglionic megacolon, Iris coloboma, Neonatal death, Optic nerve hypoplasia, Microphthalmia, Mic... ORPHA:85284
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, High palate, Deep philtrum, Alobar holoprosenceph... OMIM:609637
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Occipital cortical atrophy, Hypoplasia of the pons, Anophthalmia ORPHA:411986
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification ORPHA:73256
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Gingivitis, Periodontitis, Hydrocephalus, Abnormality of the dentition ORPHA:1008
Marshall-Smith Syndrome
Prominence of the premaxilla, Short philtrum, Cerebral atrophy, Umbilical hernia, Irregular denti... OMIM:602535
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Basal ganglia calcification, Hypoplasia of the maxilla OMIM:608432
Microphthalmia, Syndromic 5
Coloboma, Ectopic posterior pituitary, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Bowen Syndrome Of Multiple Malformations
Micrognathia, Death in childhood, Agenesis of corpus callosum OMIM:211200
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Frontal Encephalocele
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification ORPHA:1931
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Coloboma ORPHA:141333
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Decreased body weight, Small for gestational age, Microcephaly, Hypoplasia... ORPHA:93950
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Pierpont Syndrome
Ventriculomegaly, Short finger, Primary microcephaly, Abnormal cortical gyration, Microphthalmia,... ORPHA:487825
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Hypoplasia of the corpus callosum, Cerebral atrophy, Small basal ganglia, Microg... OMIM:616286
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thala... OMIM:156810
Vacterl With Hydrocephalus
Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Aqueductal stenosis, Absence of the sacr... ORPHA:3412
Craniofacial Dyssynostosis
Short philtrum, Open mouth, Hypoplasia of the corpus callosum, Umbilical hernia, Abnormal oral ca... ORPHA:1516
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia, Coloboma OMIM:300915
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Facial diplegia, Cerebral atrophy, Paucity of anterior ho... OMIM:611890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Macrocephaly, Remnants of the hyaloid vascular system, Pachygyria, T... OMIM:614643
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Mandibular prognathia, Microph... ORPHA:435638
Achondroplasia
Megalencephaly, Malar flattening, Hydrocephalus OMIM:100800
Distal Monosomy 10Q
Cavum septum pellucidum, Short metatarsal, Micrognathia, Cerebellar hypoplasia, Inferior vermis h... ORPHA:96148
Mosaic Trisomy 1
Microretrognathia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Polymicrogyria, Microphth... ORPHA:1692
Cog5-Cdg
Cerebral white matter atrophy, Microcephaly, Retrognathia, Diffuse cerebral atrophy, Dilation of ... ORPHA:263487
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Increased head circumference, Optic nerve compression, Death in childhood, Opti... OMIM:612301
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Macrocephaly, Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Delayed eruption of teeth, Global brai... OMIM:619229
Amish Lethal Microcephaly
Spina bifida, Micrognathia, Ventriculomegaly, Cerebellar vermis hypoplasia, Death in infancy, Mic... ORPHA:99742
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Microphthalmia, Microcephaly,... OMIM:614833
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Ventriculomegaly, Short 5th metacarpal, Short foot, Anterior pituitary hypo... ORPHA:264200
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Malar flattening, Narrow mouth, Abnormal palate morphology ORPHA:2412
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w... OMIM:615191
Orofaciodigital Syndrome Type 14
Microretrognathia, Hypoplasia of the corpus callosum, Retinal coloboma, Dilated fourth ventricle,... ORPHA:434179
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Aplasia/Hypoplasia of the corpus callosum, Downtur... ORPHA:2409
Cohen Syndrome
Short philtrum, Open mouth, Hypoplasia of the maxilla, Macrodontia of permanent maxillary central... OMIM:216550
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Abnormal lateral ventricle morphology,... OMIM:615280
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Conical mandibular incisor, Discolored lateral incisors OMIM:601668
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus ORPHA:759
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Mandibular... ORPHA:90322
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Colpocephaly ORPHA:401815
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Warburg Micro Syndrome 3
Micrognathia, Hypoplasia of the corpus callosum, Ventriculomegaly, Secondary microcephaly, Cerebr... OMIM:614222
Wars2-Related Combined Oxidative Phosphorylation Defect
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Ventriculomegaly, ... ORPHA:572798
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Abnormality of the diencephalon, Microcephaly, Cyclopia ORPHA:2165
Glutaric Acidemia I
Macrocephaly, Dilation of lateral ventricles OMIM:231670
Hartsfield Syndrome
Microphthalmia, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Loba... ORPHA:2117
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Abnormality of the maxilla ORPHA:329252
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Holoprosen... ORPHA:2166
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, Encephalomalacia, Ab... ORPHA:68
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar ve... ORPHA:163961
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, High, narrow palate, Incisor macrodontia, Thick vermilion border, Ten... ORPHA:166108
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hydrocephalus, Simplified gyral pattern, Agenesis of corpus callosum, Partial agenesis ... OMIM:619302
Frontonasal Dysplasia 1
Coloboma, Hypoplastic frontal sinuses, Lipoma of corpus callosum, Microphthalmia, Agenesis of cor... OMIM:136760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hypoplasia, P... OMIM:616538
Cerebellofaciodental Syndrome
Microcephaly, Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia OMIM:616202
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Colpocephaly, Absent septum pellucidum, Short 1st metacarpal, Optic ner... OMIM:609053
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Microretrognathia, Posterior fossa cyst at the fourth ventricle, Dilated fourth v... OMIM:220220
Curry-Jones Syndrome
Coloboma, Ventriculomegaly, Megalencephaly, Polymicrogyria, Microphthalmia, Hemimegalencephaly, A... OMIM:601707
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Ventric... ORPHA:2177
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Temple Syndrome
Short philtrum, Overweight, Truncal obesity, Small for gestational age, Cleft palate, Bifid uvula... OMIM:616222
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300602
Weaver Syndrome
Short fourth metatarsal, Absent septum pellucidum, Mandibular prognathia, Umbilical hernia, Short... OMIM:277590
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral calcificatio... OMIM:610333
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Broad philtrum... OMIM:618577
Joubert Syndrome 22
Temporal cortical atrophy, Coloboma, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis ... OMIM:615665
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia, Micrognathia, Agenesis of corpus callosum ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Ventriculomegaly, Type II lissencephaly, Hydrocephalus OMIM:613154
Microphthalmia, Syndromic 8
Microcephaly, Mandibular prognathia, Microphthalmia OMIM:601349
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Holoprosencephaly
Panhypopituitarism, Chorioretinal coloboma, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypopla... ORPHA:2162
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Optic disc pallor, Decreased nerve conduction velocity, S... ORPHA:485421
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Tetraamelia-Multiple Malformations Syndrome
Agenesis of corpus callosum, Micrognathia, Iris coloboma, Septo-optic dysplasia, Microphthalmia, ... ORPHA:3301
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Pachygyria, Ventriculomegaly, Iris coloboma, Microphthalmia, Microcephaly... OMIM:243310
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Microcephaly, Microphthalmia OMIM:612530
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal cerebral white matter morphology, Type II lissencephaly, Hydrocephalus ORPHA:352682
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Death in infancy, Cerebellar hypoplasia, Microphthalmia, Short foot, Micrognathia, Hy... ORPHA:163966
Cerebrooculofacioskeletal Syndrome 2
Death in infancy, Death in childhood, Microphthalmia, Microcephaly, Micrognathia OMIM:610756
Cerebrooculonasal Syndrome
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Anophthalmia, Macrocephaly, Mala... OMIM:605627
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Micrognathia, Microphthalmia ORPHA:404440
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Malar flattening, Agenesis of corpus callosum, Hypoplasia of the... OMIM:109120
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300431
Meckel Syndrome
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Aplasia/Hypoplasia of the iris, Anenceph... ORPHA:564
Fanconi Anemia, Complementation Group G
Microcephaly, Microphthalmia OMIM:614082
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Abnormal cereb... ORPHA:79264
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Agyria, Microcephaly, Micrognathia, Agenesis of corpus callosum, Lissencep... OMIM:616342
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microphthalmia, Microcephaly, Agenes... OMIM:611134
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Abnormality of the septum pellucidum, Cerebral atrophy, Umb... ORPHA:171839
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Stromme Syndrome
Agenesis of corpus callosum, Stillbirth, Cerebellar vermis hypoplasia, Iris coloboma, Cerebellar ... OMIM:243605
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Abnormal corpus callosum morp... ORPHA:457279
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:250994
Lujan-Fryns Syndrome
Short philtrum, Aplasia/Hypoplasia of the corpus callosum, Dental crowding, Abnormality of the de... ORPHA:776
Infantile Spasms-Broad Thumbs Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Microcephaly, Micrognathia,... ORPHA:3173
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Dental crowding, Ventriculomegaly, Aqueductal stenosis, Shovel-shaped maxillary centr... OMIM:600906
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Long philtrum, Arrhinencephaly, Cleft upper ... ORPHA:1106
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cerebral atrophy, Lethargy, Abnormal posturing OMIM:614857
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Cerebral cortical atrophy, Microphthalmia, Microcephaly, Retrognathia, Optic... OMIM:234050
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Diencephalic Syndrome
Everted lower lip vermilion, Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma, Anophthalmia ORPHA:1104
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Hydrocephalus, Narrow mouth ORPHA:83473
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Agenesis of corpus callosum, Micrognathia, Ventriculomegaly, Umbilic... OMIM:618651
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Cerebellar hypoplasia, Colpocephaly OMIM:618731
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hy... ORPHA:494344
Gómez-López-Hernández Syndrome
Thin vermilion border, Hydrocephalus, Ataxia ORPHA:1532
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:241310
Williams-Beuren Region Duplication Syndrome
Short philtrum, Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomegaly, Diastema, ... OMIM:609757
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Failure to thrive, Microcephaly, Malar flattening, Agenesis of corpus callosum OMIM:612940
Hemifacial Microsomia
Vertebral hypoplasia, Hydrocephalus, Branchial anomaly, Microphthalmia, Anophthalmia, Micrognathi... OMIM:164210
Congenital Disorder Of Glycosylation, Type Iu
Cerebral white matter atrophy, Death in infancy, Cerebellar hypoplasia, Optic atrophy, Secondary ... OMIM:615042
Trisomy 13
Aplasia/Hypoplasia of the iris, Iris coloboma, Microphthalmia, Anophthalmia, Optic atrophy, Malar... ORPHA:3378
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma OMIM:613703
Seckel Syndrome 2
Microcephaly, Micrognathia, Cerebellar hypoplasia, Microphthalmia OMIM:606744
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Optic disc hypoplasia, Hypoplasia of the corpus callosum, Fusion of ... OMIM:619306
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Obesity, Hyperactivity, Crowded maxillary incisors, Hypoplasia of the maxilla ORPHA:397973
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ab... ORPHA:254930
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Umbilical hernia, Dandy-Walker malformation, Protruding tongue, Failure to thrive, ... OMIM:612938
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal putamen morphology, Cerebral edema ORPHA:88619
Pierpont Syndrome
Short finger, Short foot, Microphthalmia, Short toe, Microcephaly, Malar flattening, Short palm OMIM:602342
Cockayne Syndrome Type 1
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Mandibular... ORPHA:90321
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Macrocephaly, Distal shortening of limbs, Rhizomelia, Microphthalmia, 11 pairs of ribs, Hydroceph... OMIM:300863
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Abnormality of canine, Abnormality of t... ORPHA:363417
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Primary microcephaly, Microphthalmia, Retrog... OMIM:618804
Monosomy 18P
Carious teeth, Holoprosencephaly, Microphthalmia, Microcephaly, Micrognathia ORPHA:1598
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Death in infancy OMIM:619046
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Agenesis of corpus c... OMIM:236670
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma OMIM:601794
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Short distal ... ORPHA:2513
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cerebellar hypoplasia, Cerebral cortical atrophy, Optic nerve hypoplasia,... ORPHA:163937
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Short philtrum, Narrow palate, Open mouth, Hypoplasia of the corpus callosum, Mand... ORPHA:364028
Xk Aprosencephaly Syndrome
Microcephaly, Microphthalmia ORPHA:3469
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Mandibular prognathia, Spinal dysra... ORPHA:1908
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:2476
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Short distal phalanx of finger, Microcephaly, Dental malocclu... ORPHA:2959
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intensity, Abnormal basa... ORPHA:363558
Curry-Jones Syndrome
Optic disc coloboma, Ventriculomegaly, Iris coloboma, Microphthalmia, Agenesis of corpus callosum ORPHA:1553
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Ventriculomegaly, Aplas... ORPHA:137902
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Cyclopia, Alobar holoprosencephaly, Sep... OMIM:301043
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate ORPHA:945
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Abnormal thalamic MRI signal intens... ORPHA:157846
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, High palate, Incisor macrodontia, Abnormality of primary teeth, Ataxia, Tented upper li... ORPHA:438216
Joubert Syndrome 14
Coloboma, Microphthalmia, Malar flattening, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Panhypophysitis
Panhypopituitarism, Orthostatic hypotension, Pituitary hypothyroidism, Abnormality of the posteri... ORPHA:95513
Mental Retardation, Autosomal Dominant 36
Inability to walk, Open mouth, Hypoplasia of the corpus callosum, Ventriculomegaly, Tented upper ... OMIM:616362
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Hydrocephalus ORPHA:397951
Angelman Syndrome
Macroglossia, Drooling, Progressive gait ataxia, Hypoplasia of the maxilla, Mandibular prognathia... OMIM:105830
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Iris coloboma, Microphthalmia, Anophthalmia, Hypoplasia o... ORPHA:2250
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Mohr Syndrome
Accessory oral frenulum, Porencephalic cyst, Agenesis of central incisor, Tongue nodules, Bifid t... OMIM:252100
Prader-Willi Syndrome Due To Translocation
Carious teeth, Anterior pituitary hypoplasia, Cerebral cortical atrophy, Small hand, Short foot, ... ORPHA:177907
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia ORPHA:1574
Adenohypophysitis
Panhypopituitarism, Orthostatic hypotension, Pituitary hypothyroidism, Abnormal thalamic MRI sign... ORPHA:95512
Intellectual Developmental Disorder, Autosomal Dominant 65
Long philtrum, Short philtrum, Downturned corners of mouth, Noncommunicating hydrocephalus, Dysge... OMIM:619320
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Ventriculomegaly, Aganglionic megacolon, Death in infancy, Microcephaly, Micrognathia... ORPHA:452
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Mandibular prognathia, Microphthalmia, Simplified gyral pattern, Microcephaly, Optic atrophy OMIM:152950
Pelvis-Shoulder Dysplasia
Spina bifida, Aplasia/Hypoplasia of the scapulae, Mesomelic/rhizomelic limb shortening, Retinal c... ORPHA:2839
Micro Syndrome
Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Retinal coloboma, Cerebellar... ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Agenesis of corpus c... OMIM:613150
Maxillonasal Dysplasia
Open bite, Mandibular prognathia, Tooth agenesis, Cleft palate, Microdontia, Hypoplasia of the ma... ORPHA:1248
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Bilateral microphthalmos, Coloboma, Unilateral microphthalmos OMIM:619318
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251915
Schisis Association
Spina bifida, Anencephaly, Unilateral cleft lip, Small for gestational age, Cleft palate, Microce... ORPHA:63862
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Oligodontia, Pachygyria, Narrow palate, Narrow mouth, Conical incisor,... OMIM:235510
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Optic ... ORPHA:1947
Faciothoracogenital Syndrome
Micrognathia, Microphthalmia OMIM:227320
Xeroderma Pigmentosum, Complementation Group B
Ventriculomegaly, Basal ganglia calcification, Microphthalmia, Decreased nerve conduction velocit... OMIM:610651
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia ORPHA:2975
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Absent septum pellucidum OMIM:307000
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ventriculomegaly, Increased CSF protein, High palate, Agenesis of corpus callosum, Hypoplasia of ... OMIM:218000
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Malar flattening, Agenesis of... OMIM:218350
Aicardi Syndrome
Prominence of the premaxilla, Short philtrum, Pachygyria, Ventriculomegaly, Polymicrogyria, Cleft... ORPHA:50
Focal Dermal Hypoplasia
Enamel hypoplasia, Aniridia, Short metatarsal, Midclavicular aplasia, Iris coloboma, Midclavicula... OMIM:305600
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Failure to thrive, Gingival overgrowth, High palate, Hydrocephalus OMIM:269920
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Split Lower Lip
Lower lip pit, Narrow maxilla, Abnormality of lower lip, Abnormality of the dentition OMIM:183400
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Bilateral microphthalmos, Microphthalmia, Microcephaly, Hypoplasia of the maxilla ORPHA:2399
Congenital Muscular Dystrophy, Fukuyama Type
Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Ventriculomegaly, Gait disturba... ORPHA:272
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Small for gestational age, Failure to thrive... OMIM:614261
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed tongue, High... OMIM:300534
Microcephaly-Micromelia Syndrome
Aplasia/Hypoplasia of the corpus callosum, Forearm undergrowth, Absent radius, Microphthalmia, Si... OMIM:251230
Temple Syndrome
Decreased response to growth hormone stimuation test, Small for gestational age, Bifid uvula, Hyd... ORPHA:254516
Meckel Syndrome, Type 2
Meningocele, Microphthalmia, Dandy-Walker malformation, Anencephaly OMIM:603194
Microphthalmia With Limb Anomalies
Foot oligodactyly, Fibular hypoplasia, Hand oligodactyly, Microphthalmia, Anophthalmia, Retrognathia OMIM:206920
Edinburgh Malformation Syndrome
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Failure to thrive, Micrognathia... ORPHA:1895
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Thin vermilion border, Premature loss of teeth, Hypoplasia of the maxilla OMIM:156510
Craniofacial-Deafness-Hand Syndrome
Malar flattening, Hypoplasia of the maxilla OMIM:122880
20P12.3 Microdeletion Syndrome
Long philtrum, Narrow mouth, Ventriculomegaly, Malar flattening, Hypoplasia of the maxilla ORPHA:261295
16Q24.3 Microdeletion Syndrome
Biparietal narrowing, Hypoplasia of the corpus callosum, Ventriculomegaly, Optic nerve hypoplasia... ORPHA:261250
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Microcephaly, Microphthalmia OMIM:614105
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebellar hy... OMIM:613001
Krabbe Disease
Increased CSF protein, Diffuse cerebral atrophy, Hydrocephalus, Failure to thrive OMIM:245200
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, High palate, Malar flattening, Hydrocep... ORPHA:2180
Charge Syndrome
Delayed eruption of teeth, Chorioretinal coloboma, Abnormal cranial nerve morphology, Aplasia/Hyp... ORPHA:138
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the cerebellum, Porencephalic cyst, Biparietal narrowing, Aplasia/Hypoplasi... ORPHA:2612
Joubert Syndrome 2
Chorioretinal coloboma, Hypoplasia of the brainstem, Enlarged fossa interpeduncularis, Abnormal c... OMIM:608091
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Cleft palate, High palate, Hypoplasia of the maxilla OMIM:246560
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:444013
Microcephaly, Amish Type
Micrognathia, Progressive microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus cal... OMIM:607196
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Aplasia/Hypoplasia o... OMIM:253280
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla ORPHA:93945
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Malar flattening, Hydrocephalus, Hypoplasia of the maxilla ORPHA:93262
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Ataxia, Myelomeningocele, Agenesis of corpus callosum OMIM:207950
17Q12 Microduplication Syndrome
Cortical dysplasia, Microphthalmia ORPHA:261272
1Q44 Microdeletion Syndrome
Biparietal narrowing, Hydrocephalus, Optic disc hypoplasia, Ventriculomegaly, Microcephaly, Micro... ORPHA:238769
Japanese Encephalitis
Abnormality of thalamus morphology, Decreased motor nerve conduction velocity, Focal T2 hyperinte... ORPHA:79139
Pontocerebellar Hypoplasia, Type 7
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Optic atrophy, Microg... OMIM:614969
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Sp... ORPHA:1926
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Dystonia, Bradykinesia, Macrodontia of permanent maxillary central incisor, ... ORPHA:466722
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short mandibular rami, Prominent frontal sinuses, High palate, An... OMIM:170390
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Intracerebral periventricular calcifications, Decreased thalami... ORPHA:168577
Developmental And Epileptic Encephalopathy 64
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cerebral cortical atr... OMIM:618004
Gorlin Syndrome
Carious teeth, Mandibular prognathia, Cerebral calcification, Hydrocephalus ORPHA:377
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla ORPHA:99772
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Spina bifida, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, High p... ORPHA:1327
Triploidy
Macroglossia, Narrow mouth, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Wide mo... ORPHA:3376
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cortical dysplasia, S... OMIM:615574
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Elevated circulating thyroid-stimulating hormon... OMIM:601812
Warburg Micro Syndrome 2
Global brain atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Polymicrogyria, ... OMIM:614225
Spastic Paraplegia 16, X-Linked
Shuffling gait, Hypoplasia of the maxilla OMIM:300266
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Deep philtrum, Diastema, Cleft palate, Microdontia OMIM:605282
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Temtamy Syndrome
Chorioretinal coloboma, Hypoplasia of teeth, Lens luxation, Ventriculomegaly, Iris coloboma, Ecto... OMIM:218340
Jacobsen Syndrome
Chorioretinal coloboma, Micrognathia, Holoprosencephaly, Iris coloboma, Macular hypoplasia, Micro... OMIM:147791
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Carious teeth, Abnormal palate morphology, Deep philtrum, Thick lower lip ... ORPHA:2701
Pseudotrisomy 13 Syndrome
Agenesis of corpus callosum, Cyclopia, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogyria, ... OMIM:264480
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Inability to walk, Long philtrum, Thin vermilion border, Difficulty walking, Hypoplasia of the co... ORPHA:481152
Mend Syndrome
Microretrognathia, Hyperactivity, High palate, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Micrognathia, Sho... OMIM:616734
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Hypoplasia of the corpus callosum, Cerebral cortical a... OMIM:615663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Holo... OMIM:253800
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity ORPHA:529799
Cerebrooculofacioskeletal Syndrome 4
Cerebellar hypoplasia, Bilateral microphthalmos, Polymicrogyria, Simplified gyral pattern, Microc... OMIM:610758
Tenorio Syndrome
Cavum septum pellucidum, Macroglossia, Ventriculomegaly, Gait disturbance, Mandibular prognathia,... OMIM:616260
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Umbilical hernia, Hypodontia,... OMIM:601499
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:915
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Micrognathia, Cerebellar vermis hypoplasia OMIM:277170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Anencephaly, Cortical dyspl... OMIM:615287
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Rhizomelia, Microphthalmia, Anophthalmia, Macrocephaly OMIM:615877
Kapur-Toriello Syndrome
Pachygyria, Retinal coloboma, Iris coloboma, Dysplastic corpus callosum, Polymicrogyria, Micropht... ORPHA:2328
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Cerebellar-Facial-Dental Syndrome
Long philtrum, Taurodontia, Hypoplasia of the corpus callosum, Ventriculomegaly, Macrodontia of p... ORPHA:444072
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Hypoplasia of the corpus callosum, Mandibular prognathia, Cerebral atrophy, Ce... OMIM:300896
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Microcephaly, High palate, Hypoplasia of the maxilla ORPHA:85279
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Small for gestational age, Failure to thrive, Hypoplasia of the maxilla OMIM:608154
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Hydrocephalus, Ventriculomegaly, Gait disturbance, Microdontia... ORPHA:1812
Hydrocephalus With Associated Malformations
Micrognathia, Hydrocephalus OMIM:236640
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Cycl... ORPHA:990
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Absent septum pellucidum, Arrhinencephaly, Abnormal cortical gyration, Amelia, Micro... ORPHA:2538
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Microphthalmia With Linear Skin Defects Syndrome
Mandibular aplasia, Abnormal dental enamel morphology, Hydrocephalus, Absent septum pellucidum, M... ORPHA:2556
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Marshall Syndrome
Long philtrum, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin sequence, Thick up... OMIM:154780
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Cerebellar vermis hypoplasia, Mesomelia, Short ribs, Disproportionate shortening of t... OMIM:263520
Cousin Syndrome
Fibular aplasia, Rhizomelia, Hypoplastic scapulae, Mesomelia, Hydranencephaly, Microphthalmia, Mi... OMIM:260660
Subependymal Nodular Heterotopia
Meningocele, Polymicrogyria, Focal cortical dysplasia, Myelomeningocele, Abnormality of ethmoid b... ORPHA:101030
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Coffin-Lowry Syndrome
Delayed eruption of teeth, Narrow palate, Aplasia/Hypoplasia of the corpus callosum, Open mouth, ... ORPHA:192
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Hydrocephalus, Iris coloboma, Microphthalmia, Micrognathia, Agenesis of c... ORPHA:268249
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Iris coloboma, Microphthalmia, Microcephal... OMIM:309801
Vici Syndrome
Abnormal posturing, Schizencephaly, Cleft upper lip, Cleft palate, Failure to thrive, Microcephal... OMIM:242840
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Abnormal cerebral white matter m... OMIM:618476
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Charge Syndrome
Coloboma, Retinal coloboma, Holoprosencephaly, Arrhinencephaly, Iris coloboma, Decreased response... OMIM:214800
Holoprosencephaly 2
Cyclopia, Holoprosencephaly, Anterior pituitary agenesis, Cerebellar hypoplasia, Microphthalmia, ... OMIM:157170
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Hydrocephalus, Dental crowding, Subm... ORPHA:96170
Marden-Walker Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior vermis hypoplasia, Microphthalmia, M... OMIM:248700
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Cerebral calcification, Supernumerary tooth, Hypoplasia of the zygomatic bone, Mic... ORPHA:3145
Pontocerebellar Hypoplasia, Type 2E
Micrognathia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Secondary mi... OMIM:615851
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Heart And Brain Malformation Syndrome
Aplasia/Hypoplasia of the corpus callosum, Global brain atrophy, Hypoplasia of the corpus callosu... OMIM:616920
Microphthalmia, Syndromic 6
Aplasia of the optic tract, Aplasia/Hypoplasia of the corpus callosum, Coloboma, Short middle pha... OMIM:607932
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Cerebral calcification, Hydrocephalus ORPHA:2770
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Cerebellar hypoplasia, Dilated fourth ventricle, Abnormal cortical gyration, Macrogyria, Optic ne... OMIM:300749
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Ventriculomegaly, Micrognathia, Hydrocephalus OMIM:617866
3Mc Syndrome 2
Prominence of the premaxilla, Downturned corners of mouth, Torticollis, Cleft upper lip, Cleft pa... OMIM:265050
Fanconi Anemia, Complementation Group S
Microcephaly, Dental malocclusion, Microphthalmia OMIM:617883
Meckel Syndrome, Type 5
Microphthalmia, Anencephaly OMIM:611561
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Arnold-Chiari Malformation Type Ii
Hydrocephalus, Difficulty walking, Ventriculomegaly, Aqueductal stenosis, Ataxia, Meningocele, Po... ORPHA:1136
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal posturing OMIM:304700
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal periventricular white matter morphology, Cortical dysplasia, Cerebral hypoplasia, Hypopl... ORPHA:468631
Stevenson-Carey Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Microphthalmia, Coloboma OMIM:611961
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Micrognathia, Dandy-Walker malfo... OMIM:156610
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Short philtrum, Hydrocephalus OMIM:613603
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Ventriculomegaly, Cerebellar vermis hypoplasia, Micrognathia, Partial ag... OMIM:619074
Galloway-Mowat Syndrome 3
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Microphthalmia... OMIM:617729
Tay-Sachs Disease
Progressive macrocephaly, Hypointensity of cerebral white matter on MRI, Global brain atrophy, Ve... ORPHA:845
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus, Cleft upper lip, Cleft palate ORPHA:398189
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Abnorma... OMIM:614576
Orofaciodigital Syndrome I
Enamel hypoplasia, Hypothalamic hamartoma, Carious teeth, Porencephalic cyst, Agenesis of permane... OMIM:311200
Nance-Horan Syndrome
Mulberry molar, Diastema, Supernumerary maxillary incisor, Screwdriver-shaped incisors OMIM:302350
Frontorhiny
Aplasia/Hypoplasia of the corpus callosum, Hypoplastic frontal sinuses, Lipoma of corpus callosum... ORPHA:391474
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Microphthalmia, Coloboma OMIM:618652
Fg Syndrome Type 1
Slender build, Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Open mouth, Dental crowd... ORPHA:93932
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Iris coloboma, Microphthalmia ORPHA:1473
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Absent radius, Aplasia/Hypoplasia of the t... ORPHA:1352
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Widely spaced teeth, Cleft palate, Attention deficit hyperactivity disorder, Micro... ORPHA:459061
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Micrognathia, Cerebral atrophy, Microcephaly, Optic atrophy, Hydrocephalus, Optic dis... OMIM:259720
Peho Syndrome
Porencephalic cyst, Abnormality of upper lip, Open mouth, Ventriculomegaly, Abnormal palate morph... ORPHA:2836
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Coloboma, Microretrognathia, Hypoplasia of the corpus callosum, Ventriculomegaly, M... ORPHA:508498
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia OMIM:166750
2Q24 Microdeletion Syndrome
Microphthalmia, Coloboma ORPHA:1617
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Open mouth, Dental crowding, Deep philtrum, Thin upper lip vermilion, Hyperactivi... OMIM:309520
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Abnormal periv... ORPHA:83597
Desmosterolosis
Pachygyria, Narrow mouth, Hydrocephalus, Absent septum pellucidum, Ventriculomegaly, Polymicrogyr... ORPHA:35107
Spondyloenchondrodysplasia
Delayed eruption of teeth, Abnormal periventricular white matter morphology, Ventriculomegaly, Li... ORPHA:1855
Congenital Rubella Syndrome
Microcephaly, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Fetal Alcohol Syndrome
Microcephaly, Micrognathia, Biparietal narrowing, Microphthalmia ORPHA:1915
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla OMIM:259610
Distal Xq28 Microduplication Syndrome