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:
1700049L20Rik,  odd-paired related,  Opr

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
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation,... OMIM:620315
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the brainstem,... OMIM:618266
Adams-Oliver Syndrome 2
Optic atrophy, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Micrognathia, Cere... OMIM:614219
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly,... OMIM:616570
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventric... OMIM:613154
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Holoprosencephaly... OMIM:611638
Congenital Hydrocephalus
Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Optic atrophy, Macular hypop... ORPHA:2185
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Optic nerve hypopl... OMIM:618890
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, F... ORPHA:1528
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... OMIM:618736
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the pons, Dysgenesis of the basal ganglia, Pol... ORPHA:300573
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Twelfth rib hypop... ORPHA:397715
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos, Diffuse cerebral atrophy, Microcephaly, C... ORPHA:77299
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... OMIM:619244
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Abnormal mandible morphology, Irregular dentition, Cleft lower lip, Me... ORPHA:401942
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation ORPHA:101071
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Ventriculomegaly, Reduced cerebral white matter volume, Global brai... OMIM:615574
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Death in infancy,... OMIM:617668
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Micrognathia, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Optic nerve dysplasia, P... OMIM:617296
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Ventriculomegaly, Decreased thalamic volume, Occipital enceph... ORPHA:370959
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... OMIM:615771
Aicardi Syndrome
Cerebellar vermis hypoplasia, Optic atrophy, Dilated third ventricle, Lateral ventricle dilatatio... OMIM:304050
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Short palm, Polymicrogyria OMIM:300982
Oculocerebrocutaneous Syndrome
Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephaloce... OMIM:164180
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly, Hyperplasia of the maxilla, Ataxia OMIM:618383
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... OMIM:614019
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Hypoplasia of the pons, Lateral ventri... OMIM:607596
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Pineocytoma
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251912
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Small hand, Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morpholog... ORPHA:300570
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Hypoplasia of the pons, Cerebral atrophy, Micrognathia, Cerebellar hypoplasia, Mic... OMIM:616171
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Coloboma, Microphthalmia OMIM:274270
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Micrognathia, Hypoplasia of the corpu... ORPHA:284417
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Coloboma... ORPHA:324416
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Cach Syndrome
Optic atrophy, Lateral ventricle dilatation, Cerebral atrophy, Dysgyria, T2 hypointense thalamus,... ORPHA:135
Duplication Of The Pituitary Gland
Retrognathia, Hypoplasia of olfactory tract, Encephalocele, Agenesis of corpus callosum, Abnormal... ORPHA:314621
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Small hand, Periventricular leukomalacia, Hypoplasia o... ORPHA:500055
Hydrolethalus
Retrognathia, Micromelia, Micrognathia, Absent septum pellucidum, Anophthalmia, Agenesis of corpu... ORPHA:2189
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Retrognathia, Hypoplasia... ORPHA:464738
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Retrognathia, Umbilical hernia, Micrognathia, Hypoplasia of the cor... OMIM:618914
Alexander Disease Type I
Focal T2 hyperintense basal ganglia lesion, Progressive macrocephaly, Abnormal cerebral white mat... ORPHA:363717
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricul... OMIM:615889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Dea... OMIM:613153
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Retrognathia, Periventricular cysts, Dyspl... ORPHA:544488
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dila... OMIM:618291
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebral cortical atrophy, Decreased thalamic volume, Retrognathia, Hypoplasia of the brainstem, ... OMIM:619072
Walker-Warburg Syndrome
Optic atrophy, Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Microphthalmia, Abse... ORPHA:899
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calc... OMIM:620371
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anophthalmia, Microcephaly, Coloboma, Micr... OMIM:147250
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Death in childhood, Microcephaly, Partial agenesis of the corpus ca... OMIM:619517
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Anophthalmia, Neonatal death, Microphthalmia OMIM:615524
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Optic disc hypoplasia, Hypoplasia of the brainste... ORPHA:420179
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Optic atrophy, Cerebral atrophy, Micrognathia, Hypoplasia of the co... OMIM:600118
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Lateral ventricle dilatation, Dilated fourth ventricle, Micrognathia, Cerebellar h... ORPHA:3078
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum, Hydroc... OMIM:617542
Tubulinopathy-Associated Dysgyria
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormality ... ORPHA:467166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Type II lissencephaly, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia OMIM:614830
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Lissencephaly 8
Optic atrophy, Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, ... OMIM:617255
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification,... OMIM:221770
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal periventricula... OMIM:613443
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Hypoplasia of the brainstem, Hypoplasia o... OMIM:613155
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holop... ORPHA:77298
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Micrognathia, Agenesis of corpus callosum OMIM:619501
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
D-2-Hydroxyglutaric Aciduria 1
Lateral ventricle dilatation, Micrognathia, Multifocal cerebral white matter abnormalities, Macro... OMIM:600721
Microphthalmia/Coloboma 10
Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:616428
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Cerebral calcifica... ORPHA:54595
Rhombencephalosynapsis
Ventriculomegaly, Microretrognathia, Fusion of the left and right thalami, Aganglionic megacolon,... ORPHA:59315
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Malan Syndrome
Ventriculomegaly, Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla,... OMIM:614753
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da... OMIM:616602
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Hypoplasia of the bra... OMIM:617751
Pallister-Hall-Like Syndrome
Occipital encephalocele, Micromelia, Micrognathia, Death in infancy, Short ribs, Microcephaly, Hy... OMIM:241800
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Baraitser-Winter Syndrome 2
Ventriculomegaly, Retrognathia, Secondary microcephaly, Agenesis of corpus callosum, Coloboma, Mi... OMIM:614583
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Mandibular prognathia, Lateral ventricle dilatation ORPHA:85290
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Microcephaly, Abnormal periventricular white matter morphology OMIM:619725
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Shortening of all distal phalanges of the fingers, Thin corpus callosum, Lateral ve... OMIM:615716
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... OMIM:218670
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... OMIM:614963
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Microphthalmia, Th... OMIM:614105
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substanti... ORPHA:2822
Filippi Syndrome
Serrated incisors, Abnormal dental morphology, Decreased body weight, Microdontia, Hypodontia, Th... OMIM:272440
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Glutamine Deficiency, Congenital
Micromelia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Neonatal death, Sube... OMIM:610015
Alg13-Cdg
Abnormal lateral ventricle morphology, Global brain atrophy ORPHA:324422
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus, Ataxia OMIM:618709
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Microcephaly, Microphthalmia OMIM:613885
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Open mouth, Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion OMIM:137550
Paganini-Miozzo Syndrome
Mandibular prognathia, Malar flattening, Lateral ventricle dilatation OMIM:301025
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Dystonia 30
Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot... OMIM:619291
Oculoskeletodental Syndrome
Short 5th finger, Abnormal thalamus morphology, Retrognathia, Focal white matter lesions, Dysplas... ORPHA:557003
Hydrolethalus Syndrome 2
Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Cleft pa... OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Retrognathia, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainste... OMIM:614643
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive, U-Shaped upper lip vermilion OMIM:129850
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Gingivitis, Abnormality of the dentition, Periodontitis, Hydrocephalus ORPHA:1008
Trisomy 1Q
Ventriculomegaly, Microretrognathia, Anophthalmia, Agenesis of corpus callosum, Cerebellar hypopl... ORPHA:261344
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Macrocephaly OMIM:619575
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Decreased ne... ORPHA:565624
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Lateral ventricle dilatation, Microcephaly, Hypoplasia of the... ORPHA:208447
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Hypoplasia of... OMIM:618606
Cofs Syndrome
Cerebral cortical atrophy, Optic atrophy, Cerebral calcification, Micrognathia, Death in infancy,... ORPHA:1466
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb, Decreased thalamic volume OMIM:618646
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Hypoplasia of the maxilla, Small for gestational age OMIM:618302
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft palate, Short hard palate... OMIM:610829
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Hydrocephalus, Absent radius, Forea... OMIM:602200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Masa Syndrome
Shuffling gait, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Secondary microcephaly, Decreased thalamic volume, Diffuse cerebral atrophy, Hypoplasia of the br... OMIM:613668
Biemond Syndrome Type 2
Coloboma, Hydrocephalus, Microphthalmia ORPHA:141333
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Chorioretinal coloboma, Anophthalmia, Agenesis of corpus c... ORPHA:139471
Gombo Syndrome
Microcephaly, Microphthalmia OMIM:233270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:615249
Holoprosencephaly 7
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral c... OMIM:610828
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... OMIM:615181
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance, Failure to thrive ORPHA:26
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Macrocephaly, Agenesis of corpus callosum OMIM:618929
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Agenesis of corpus callosum, Microcephal... OMIM:615219
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal corpus striat... ORPHA:397725
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Secondary microcephaly, Death in infancy, Neonatal death, Cerebellar hypoplasia... OMIM:613730
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral hypoplasia, Anophthalmia, Hypoplasia of the corpus callosum, Agene... OMIM:206900
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Thi... OMIM:608629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Micrognath... ORPHA:2570
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Hydrocephalus, Decreased body weight OMIM:614886
Dystonia 31
Difficulty walking, Abnormal posturing OMIM:619565
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Focal T2 hyperintense thalamic lesion, Cerebral atrophy OMIM:619057
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Ventriculomegaly, Cerebral atrophy, Death in childhood, Hypoplasia of the corpus c... OMIM:616034
Atkin-Flaitz Syndrome
Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilion border, Maxil... ORPHA:1193
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... OMIM:613684
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Malar flattening, Abnormal palate morphology, Prominence of the premaxilla ORPHA:2412
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Progressive macrocephaly, Hydrocephalus, Cavum septum pellucidu... OMIM:602501
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Lateral ventricle dilatation, Macrocephaly OMIM:256850
14Q22Q23 Microdeletion Syndrome
Ventriculomegaly, Optic nerve aplasia, Short 5th metacarpal, Micrognathia, Anophthalmia, Malar fl... ORPHA:264200
Congenital Toxoplasmosis
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Microphthalmia ORPHA:858
Fried Syndrome
Short philtrum, High palate, Gait disturbance, Hydrocephalus ORPHA:85335
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Open operculum, Microretrognathia, Retinal coloboma, Dilated fourth vent... ORPHA:434179
Intellectual Developmental Disorder, Autosomal Dominant 56
Secondary microcephaly, Thin corpus callosum, Lateral ventricle dilatation OMIM:617854
Intellectual Developmental Disorder, Autosomal Dominant 21
Ventriculomegaly, Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft ... OMIM:615502
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Lateral ventricle dilatation, Cerebral atr... ORPHA:356961
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, Hypoplasia of the co... OMIM:618193
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Anophthalmia, Hypoplasia of the corpus callosum, ... OMIM:605627
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Malar prominence, Micrognathia, Abnormality of perip... ORPHA:48431
Bresek Syndrome
Neonatal death, Microcephaly, Aganglionic megacolon, Hydrocephalus, Microphthalmia, Iris coloboma... ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Truncal ataxia, Gait ataxia, Hyperplasia of the maxilla OMIM:618587
Skraban-Deardorff Syndrome
Ventriculomegaly, Broad-based gait, Hyperplasia of the maxilla, Widely spaced teeth, Thick upper ... OMIM:617616
Frontonasal Dysplasia 1
Cranium bifidum occultum, Hypoplasia of the maxilla, Anterior basal encephalocele, Pericallosal l... OMIM:136760
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Focal T2 hyperintense thalamic lesion, Decreased motor nerve conduction velo... OMIM:613724
Temtamy Syndrome
Ventriculomegaly, Chorioretinal coloboma, Micrognathia, Short 2nd toe, Agenesis of corpus callosu... OMIM:218340
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Optic nerve hypoplasia, Microretrognathia, Dysgen... ORPHA:171680
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cerebral atrophy, Death in childhood, Microcephaly, Primary microce... OMIM:619847
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Cerebral calcification, Cerebella... OMIM:617397
Central Neurocytoma
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... ORPHA:488627
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Hydrocephalus OMIM:300884
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... OMIM:300602
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Retrognathia, Cerebral atrophy, Polymicro... OMIM:620156
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Failure to thrive, Diastema, Decreased response to growth hormone stimulation t... OMIM:609757
Holoprosencephaly
Optic atrophy, Spinal dysraphism, Hypoplasia of the zygomatic bone, Chorioretinal coloboma, Aplas... ORPHA:2162
Dandy-Walker Syndrome
Truncal ataxia, Dilated fourth ventricle, Hydrocephalus OMIM:220200
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Death in childhood, Death i... OMIM:612301
Cerebrooculofacioskeletal Syndrome 1
Ventriculomegaly, Carious teeth, Delayed eruption of teeth, Basal ganglia calcification, Microgna... OMIM:214150
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Global brain atrophy, Carious teeth, Lateral ventricle dilatation, Yellow-brown... OMIM:619229
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Retrognathia, Microphthalmia ORPHA:2528
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Retrognathia, Periventricular leukomalacia, Abnormal caudate nucleu... ORPHA:293725
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Dental malocclusion, Widely-spaced maxillary central incisors, Incisor ... OMIM:619719
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Open mouth, Tented upper lip vermilion, Broad philtrum, Thick ... ORPHA:166108
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl... ORPHA:2148
Vacterl With Hydrocephalus
Absence of the sacrum, Retrognathia, Micrognathia, Anophthalmia, Hydrocephalus, Spina bifida, Mic... ORPHA:3412
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Micrognathia, Facial diplegi... ORPHA:96148
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Broad-based gait, Downturned corners of mouth... OMIM:618067
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly OMIM:231670
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Delayed eruption of primary teeth, Lateral ventricle dilatation, Agenesis of corp... OMIM:300952
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Small hand, Rhizomelia, Lateral ventricle dilatation, Cerebral atro... OMIM:611209
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Coloboma, Microphthalmia, Optic nerve hypoplasia OMIM:610125
Microphthalmia/Coloboma 4
Coloboma, Microphthalmia OMIM:251505
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Death in infancy, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia,... ORPHA:163966
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation, Reduced cerebral white matter volume, Parietal cortical atrophy, Th... OMIM:620075
Basal Ganglia Calcification, Idiopathic, 5
Basal ganglia calcification, Cerebral calcification, Thalamic calcification OMIM:615483
Proboscis Lateralis
Abnormal corpus callosum morphology, Abnormality of the maxillary sinus, Ventriculomegaly, Abnorm... ORPHA:141099
Anophthalmia Plus Syndrome
Iris coloboma, Anophthalmia, Spina bifida ORPHA:1104
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Dilated third ventricle, Abnormal cerebral white matter morphology, Cerebral atrophy ORPHA:314404
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Micrognathia, Cerebral white matter atrophy, Microphthalmia, Congen... ORPHA:435638
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Optic atrophy, Hypoplasia of the brainstem, Malar flattening, Hypop... OMIM:614424
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Gómez-López-Hernández Syndrome
Thin vermilion border, Hydrocephalus, Ataxia ORPHA:1532
Pierpont Syndrome
Ventriculomegaly, Abnormal cortical gyration, Short toe, Short finger, Malar flattening, Primary ... ORPHA:487825
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Cog5-Cdg
Lateral ventricle dilatation, Retrognathia, Diffuse cerebral atrophy, Cerebral white matter atrop... ORPHA:263487
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Huntington Disease-Like 1
Ventriculomegaly, Abnormal posturing, Gait ataxia, Dysmetria, Weight loss, Gait disturbance ORPHA:157941
Mmep Syndrome
Microcephaly, Mandibular prognathia, Microphthalmia ORPHA:3434
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Microretrognathia, Lateral ventricle dilatation, Polymicrogyria, Ag... ORPHA:1692
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Long philtrum, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Broad ... OMIM:618577
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Diencephalic Syndrome
Cachexia, Hydrocephalus, Everted lower lip vermilion, Decreased body weight ORPHA:1672
Linear Skin Defects With Multiple Congenital Anomalies 2
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Opt... OMIM:300887
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short thumb, Decreased response to growth hormone stimulation... OMIM:609053
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... ORPHA:2409
Trisomy 13
Optic atrophy, Aplasia/Hypoplasia of the iris, Malar flattening, Anophthalmia, Microphthalmia, Ir... ORPHA:3378
Amelocerebrohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec... ORPHA:1946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, ... OMIM:236670
Spinocerebellar Ataxia With Epilepsy
Cerebral infarct, Optic atrophy, Focal T2 hyperintense thalamic lesion ORPHA:254881
Joubert Syndrome 15
Exencephaly, Ataxia OMIM:614464
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum ORPHA:411986
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Micrognathia, Agenesis of corpus callosum, Missing ribs, Hydrocephalus, Microphtha... ORPHA:3301
Chromosome 6Q24-Q25 Deletion Syndrome
Small hand, Lateral ventricle dilatation, Probst bundles, Agenesis of corpus callosum, Hydrocephalus OMIM:612863
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Ventriculomegaly, Akinesia, Micrognathia, Agenesis of corpus callosum, Hydroceph... OMIM:225790
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Meckel Syndrome
Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Anophthalmia, Aplasia/Hyp... ORPHA:564
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia ORPHA:1574
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, T2 hypointense thalamus, Hyperintensity of cerebral white matter on MRI, Optic ... ORPHA:1947
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma OMIM:601794
Meckel Syndrome, Type 4
Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Meningocele, Micro... OMIM:611134
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla OMIM:613671
Stromme Syndrome
Cerebellar vermis hypoplasia, Stillbirth, Micrognathia, Agenesis of corpus callosum, Cerebellar h... OMIM:243605
Baraitser-Winter Syndrome 1
Ventriculomegaly, Retrognathia, Chorioretinal coloboma, Agenesis of corpus callosum, Microcephaly... OMIM:243310
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia, Small for gestational age, Decreased body weight ORPHA:93950
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:363417
Marshall-Smith Syndrome
Eclabion, Ventriculomegaly, Microretrognathia, Failure to thrive, Retrognathia, Umbilical hernia,... OMIM:602535
Autosomal Recessive Spastic Paraplegia Type 66
Cerebellar hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele, Partial agenes... ORPHA:101030
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Retinal coloboma, Micrognathia, H... OMIM:619775
1Q21.1 Microduplication Syndrome
Hydrocephalus, Failure to thrive ORPHA:250994
Curry-Jones Syndrome
Ventriculomegaly, Optic disc coloboma, Agenesis of corpus callosum, Microphthalmia, Iris coloboma ORPHA:1553
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Micrognathia, Open mouth, Abnormal oral cavity morphology, Hydrocephalus, Short... ORPHA:1516
Temtamy Syndrome
Short toe, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Micro... ORPHA:1777
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hydrocephalus OMIM:619470
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618317
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Subependymal cysts, Thin upper lip vermilion, Smooth philtrum, Widely-... OMIM:618737
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Abnormal thalamus morphology, Microphthalmia ORPHA:404440
Dworschak-Punetha Neurodevelopmental Syndrome
Optic disc hypoplasia, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Col... OMIM:619955
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Distal shortening of limbs, Macrocephaly, 11 pairs of ribs, Hypoplasia of the calcane... OMIM:300863
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Retrognathia, Dilated fourth ventricl... OMIM:619869
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Failure to thrive, Retrognathia, Micrognathia, Malar flattening, Hydro... OMIM:620157
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Microphtha... OMIM:614833
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Ventriculomegaly, Optic atrophy, Micrognathia, Death in infancy, Ag... ORPHA:99742
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Umbilical hernia, Micrognathia, Narrow mouth, Encephalocele, Orofac... ORPHA:2166
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Microphthalmia, Isolated 8
Retinal coloboma, True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hypoplasia of the maxilla, Malar flattening, Agenesis of corpus callosum, Hydro... OMIM:109120
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Ventriculomegaly, Micrognathia, Periventricular leukomalacia, Microcephaly, Colpoc... OMIM:619833
Bainbridge-Ropers Syndrome
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Retrognathia, Micrognathia, ... OMIM:615485
Acalvaria
Holoprosencephaly, Cleft palate, Hydrocephalus, Spina bifida ORPHA:945
Weaver Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Retrognathia, Umbilical hernia, Absent septum pel... OMIM:277590
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Micro... ORPHA:2117
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Cerebellar vermis hypoplasia, Ventriculomegaly, Lateral ventricle dilatation... ORPHA:572798
Recon Progeroid Syndrome
Dental crowding, Prominence of the premaxilla, Smooth philtrum, Thin vermilion border, Delayed er... OMIM:620370
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia, Micrognathia, Agenesis of corpus callosum ORPHA:93267
Amoebiasis Due To Free-Living Amoebae
Abnormal cerebral cortex morphology, Abnormal basal ganglia morphology, Abnormal hypothalamus mor... ORPHA:68
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Absent radius, ... OMIM:251230
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hypoplasia of the brainstem, Type II lissencephaly, Microphthalmia, Encephaloce... OMIM:613150
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Abnormal posturing, Inability to walk, Weight loss, Gait disturbance ORPHA:216866
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Aicardi-Goutieres Syndrome 9
Optic atrophy, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification, Cereb... OMIM:619487
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251915
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Optic disc pal... OMIM:251270
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Halperin-Birk Syndrome
Optic atrophy, Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Micrognathia, Dea... OMIM:618651
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, High palate OMIM:304100
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Small hand, Carious teeth, Lateral ventricle dilatation, Retrognathia,... ORPHA:177907
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Temple Syndrome
Bifid uvula, Obesity, Micrognathia, Short philtrum, Hydrocephalus, Truncal obesity, High palate, ... OMIM:616222
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia, Mandibular prognathia, Cleft p... ORPHA:1248
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cerebellar hypoplasia, Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Alexander Disease
Increased CSF protein concentration, Hydrocephalus, Dysmetria, Ataxia OMIM:203450
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Hypoplasia of the maxilla, Mandibular prognathia, Decreased body weight ORPHA:93945
Split Lower Lip
Abnormality of the dentition, Narrow maxilla, Abnormal lower lip morphology, Lower lip pit OMIM:183400
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Slender build, Thick vermilion... ORPHA:364028
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Keppen-Lubinsky Syndrome
Micrognathia, Microcephaly, Abnormally large globe, Lateral ventricle dilatation OMIM:614098
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the corpus callosum, H... ORPHA:391474
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lateral ventricle dilatation, Lewy bodies, Neurofibrillary tangles OMIM:607485
Microphthalmia, Syndromic 13
Microcephaly, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:300915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Cerebral calcification, Hypoplasi... OMIM:616538
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Subcortical white matter calcifications, Delayed e... ORPHA:90322
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Failure to thrive, Long philtrum, Cleft ... ORPHA:1106
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Mandibular prognathia, Hydrocephalus OMIM:248000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Obesity, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Dilated fourth ventricle, Hydrocephalus, Truncal ataxia, Dandy-Walker malforma... OMIM:220220
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Cyclopia, Holoprosencephaly, Abnormality of the diencephalon ORPHA:2165
Holoprosencephaly 2
Anterior pituitary agenesis, Alobar holoprosencephaly, Semilobar holoprosencephaly, Chorioretinal... OMIM:157170
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Edinburgh Malformation Syndrome
Failure to thrive, Downturned corners of mouth, Micrognathia, Narrow mouth, Hydrocephalus, Thin v... ORPHA:1895
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Increased CSF protein concentration, Hypoplasia of the maxilla, Ventriculomegaly, Inability to wa... OMIM:218000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Macrocephaly, Abnormal cerebra... ORPHA:457279
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Focal T2 hyperintense basal ganglia lesi... ORPHA:79264
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation, Short humerus, Hypoplasia ... OMIM:619479
20P12.3 Microdeletion Syndrome
Ventriculomegaly, Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening ORPHA:261295
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Encephalocele,... OMIM:253800
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Spinal dysraphism, Micrognathia, Encephalocele, Hydrocephalus, Meningocele... ORPHA:1908
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilio... OMIM:620114
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Secondary microcephaly, Decreased nerve conduction velocity, Optic disc pallor, Ab... ORPHA:485421
Hydranencephaly
Cerebral cortical atrophy, Ventriculomegaly, Atrophic pituitary gland, Abnormal corpus striatum m... ORPHA:2177
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Cleft palate OMIM:246560
Congenital Syphilis
Hyperplasia of the maxilla, Large placenta, Hydrocephalus, Mulberry molar, Notched primary centra... ORPHA:499009
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Hypoplasia of the maxilla, Short philtrum, Premature loss of teeth OMIM:156510
Charge Syndrome
Optic atrophy, Hypoplasia of the zygomatic bone, Chorioretinal coloboma, Delayed eruption of teet... ORPHA:138
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the brainstem, Secondary micro... OMIM:619306
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Lateral ventricle dilatation, Secondary microcephaly, Micrognathia, Ab... OMIM:300868
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Optic atrophy, Chorioretinal coloboma, Micrognath... ORPHA:494344
X-Linked Lissencephaly With Abnormal Genitalia
Ventriculomegaly, Micrognathia, Death in infancy, Agenesis of corpus callosum, Microcephaly, Agan... ORPHA:452
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Hydrocephalus, Abnormal palate morphology ORPHA:93262
Focal Dermal Hypoplasia
Midclavicular aplasia, Chorioretinal coloboma, Anophthalmia, Agenesis of corpus callosum, Microph... OMIM:305600
Congenital Varicella Syndrome
Cerebral cortical atrophy, Micromelia, Microcephaly, Microphthalmia ORPHA:291
Kleeblattschaedel
Hydrocephalus OMIM:148800
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Optic atrophy, Retrognathia, Microcephaly, Microphthalmia, Partial age... OMIM:234050
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... OMIM:617914
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity, Malar flattening, Hydrocephalus, High palate, Mandibu... ORPHA:2180
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Ventriculomegaly, Optic atrophy, Polymicrogyria, Secondary microcephal... OMIM:614222
Gabriele-De Vries Syndrome
Cortical dysplasia, Micrognathia, Malar flattening, Lateral ventricle dilatation OMIM:617557
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Developmental And Epileptic Encephalopathy 1
Microcephaly, Ventriculomegaly, Global brain atrophy, Microphthalmia OMIM:308350
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Abnormal palate morphology, Deep philtrum, Hydrocephalu... ORPHA:2701
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Lateral ventricle dilatation, Micrognathia, Death in childhood, Hypoplasia of the corpus callosum... OMIM:210710
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hydrocephalus, Ataxia OMIM:618174
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Hypoplasia of the brainstem, Anophthalmia, Chronic sinusi... OMIM:615636
Pelvis-Shoulder Dysplasia
Hydranencephaly, Bilateral microphthalmos, Retinal coloboma, Micrognathia, Mesomelic/rhizomelic l... ORPHA:2839
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Slender build, High palate, Mandibular prognathia OMIM:300676
Houge-Janssens Syndrome 2
Ventriculomegaly, Inability to walk, Tented upper lip vermilion, Open mouth, Gait ataxia, Agenesi... OMIM:616362
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Micrognathia, Failure to thrive OMIM:614857
Pierpont Syndrome
Short toe, Short finger, Malar flattening, Microcephaly, Microphthalmia, Short foot, Short palm OMIM:602342
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate OMIM:605282
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermil... ORPHA:438216
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Umbilical hernia, Microdontia, Hypodontia, Hydrocephalus, Everted lowe... OMIM:601499
Monosomy 18P
Carious teeth, Micrognathia, Microcephaly, Microphthalmia, Holoprosencephaly ORPHA:1598
Spastic Paraplegia 16, X-Linked
Shuffling gait, Hypoplasia of the maxilla OMIM:300266
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Ventriculomegaly, Small hand, Decreased response to growth hormone stimulation test, Micrognathia... OMIM:241410
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Microphthalmia With Limb Anomalies
Finger aplasia, Retrognathia, Foot oligodactyly, Anophthalmia, Fibular hypoplasia, Microphthalmia OMIM:206920
Intellectual Developmental Disorder, Autosomal Dominant 65
Downturned corners of mouth, Long philtrum, Thick upper lip vermilion, Micrognathia, Tented upper... OMIM:619320
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Slender build, Hypoplasia of the maxilla, Small for gestational age, Failure to thrive OMIM:608154
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Umbilical hernia, Obesity, Micrognathia, Malar flattening, Hydrocephalus, Thin ver... ORPHA:171839
Pseudotrisomy 13 Syndrome
Polymicrogyria, 11 pairs of ribs, Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplas... OMIM:264480
Cockayne Syndrome Type 1
Optic atrophy, Basal ganglia calcification, Hypoplasia of the primary teeth, Anophthalmia, Abnorm... ORPHA:90321
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Death in childhood, Decreased pineal volume, Microphthalmia OMIM:301108
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Dental malocclusion, Abnormal thalamus morphology, Micrognathia, ... ORPHA:2959
Temple Syndrome
Bifid uvula, Decreased response to growth hormone stimulation test, Obesity, Hydrocephalus, Small... ORPHA:254516
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar OMIM:302350
Fanconi Anemia, Complementation Group R
Microcephaly, Absent thumb, Hydrocephalus, Microphthalmia OMIM:617244
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Micrognathia, Agenesis of corpus callosum,... OMIM:301043
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Developmental Delay With Variable Neurologic And Brain Abnormalities
Micrognathia, Microcephaly, Thin corpus callosum, Microphthalmia OMIM:619694
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Ag... OMIM:620352
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Facial diplegia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter... ORPHA:254930
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1473
2Q24 Microdeletion Syndrome
Coloboma, Microphthalmia ORPHA:1617
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Abnormal dental enamel morphology, Micrognathia, Absent septum pellucidum, Anophtha... ORPHA:2556
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Failure to thrive, Long philtrum, Difficulty walking, Inability to wal... ORPHA:481152
Nanophthalmos
Microphthalmia ORPHA:35612
Pelvis-Shoulder Dysplasia
Hypoplastic scapulae, Optic disc coloboma, Short clavicles, Microphthalmia, Spina bifida occulta,... OMIM:169550
Joubert Syndrome 2
Abnormal corpus callosum morphology, Enlarged fossa interpeduncularis, Chorioretinal coloboma, Hy... OMIM:608091
Seckel Syndrome 2
Basal ganglia calcification, Micrognathia, Cerebellar hypoplasia, Microcephaly, Primary microceph... OMIM:606744
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel morpholo... ORPHA:1812
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Retrognathia, Umbilical hernia, Gingival overgrowth, Narrow mouth, Mal... OMIM:235510
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume, Intracerebral periventricular calcifications, Microcephaly, Cerebral w... ORPHA:168577
Curry-Jones Syndrome
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Occipital meningocele, Agenesis of corpus c... OMIM:601707
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Malar flattening, Hydrocephalus, Agenesis of corpus callosum OMIM:218350
Microphthalmia, Isolated 5
Optic disc pallor, Optic disc drusen, Microphthalmia OMIM:611040
Schisis Association
Unilateral cleft lip, Encephalocele, Spina bifida, Anencephaly, Small for gestational age, Cleft ... ORPHA:63862
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Failure to thrive, Retrognathia, Umbilical hernia, Protruding tongue, Alveolar ridge... OMIM:612938
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Retrognathia, Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Hypoplasia of the maxilla, Micrognathia OMIM:166300
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
High, narrow palate, Gait disturbance, Hydrocephalus, Umbilical hernia ORPHA:2181
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Obesity, Hydrocephalus ORPHA:2183
Sandestig-Stefanova Syndrome
Ventriculomegaly, Retrognathia, Hypoplasia of the corpus callosum, Primary microcephaly, Micropht... OMIM:618804
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Wide mouth, Hydrocephalus OMIM:616521
Uruguay Faciocardiomusculoskeletal Syndrome
Retrognathia, Hyperplasia of the maxilla, Difficulty walking, Everted lower lip vermilion, Thick ... OMIM:300280
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... OMIM:613001
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Global brain atrophy, Abnormal basal ganglia MRI sign... ORPHA:363558
Aicardi Syndrome
Ventriculomegaly, Cleft upper lip, Partial agenesis of the corpus callosum, Prominence of the pre... ORPHA:50
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ... ORPHA:1327
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Gait disturbance, Hydrocephalus ORPHA:588
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventriculomegaly, Retrognathia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of ... OMIM:616449
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Microphthalmia OMIM:610023
Pettigrew Syndrome
Mandibular prognathia, Ventriculomegaly, Gait ataxia, Hydrocephalus, Calvarial osteosclerosis, Th... OMIM:304340
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Short umbilical cord, Short humerus, Hypoplasia of the corpus callo... OMIM:618367
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:120433
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ... OMIM:252100
Fibular Hemimelia
Short tibia, Short toe, Foot oligodactyly, Fibular aplasia, Anophthalmia, Fibular hypoplasia, Lim... ORPHA:93323
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Jacobsen Syndrome
Optic atrophy, Chorioretinal coloboma, Micrognathia, Missing ribs, Microcephaly, Macular hypoplas... OMIM:147791
1Q44 Microdeletion Syndrome
Ventriculomegaly, Micrognathia, Exaggerated cupid's bow, Agenesis of corpus callosum, Smooth phil... ORPHA:238769
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... ORPHA:915
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal thalamus morphology, Abnormal putamen morphology ORPHA:88619
Autosomal Recessive Spastic Paraplegia Type 77
Loss of ambulation, Macrodontia of permanent maxillary central incisor, Scissor gait, Retrognathia ORPHA:466722
Meckel Syndrome, Type 2
Encephalocele, Microphthalmia, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:603194
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia,... ORPHA:268249
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short 5th finger, Ventriculomegaly, Microretrognathia, Mandibular prognathia, Retinal coloboma, M... ORPHA:508498
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Crouzon Syndrome
Narrow palate, Hypoplasia of the maxilla, Hydrocephalus ORPHA:207
Microphthalmia/Coloboma 3
Iris coloboma, Microphthalmia OMIM:610092
Microphthalmia, Syndromic 8
Microcephaly, Mandibular prognathia, Microphthalmia OMIM:601349
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Micrognathia, Hypoplasia of the corpus callosum, Colpocephaly, Biparietal narro... ORPHA:261250
Japanese Encephalitis
Abnormality of the internal capsule, Abnormal thalamus morphology, Decreased motor nerve conducti... ORPHA:79139
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence ORPHA:99947
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Micrognathia, Agenesis of cor... OMIM:248700
Infantile Sialic Acid Storage Disease
Hydrocephalus, High palate, Gingival overgrowth, Failure to thrive OMIM:269920
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Broad-based gait, Widely spaced teeth, Obesity,... OMIM:105830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the... OMIM:253280
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Optic dis... ORPHA:468631
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Carious teeth, Small hand, Lateral ventricle dilatation, Short 4th toe, Decreas... OMIM:615873
Microphthalmia, Syndromic 6
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Retrognathia,... OMIM:607932
3Mc Syndrome 2
Downturned corners of mouth, Cleft upper lip, Prominence of the premaxilla, Broad philtrum, High ... OMIM:265050
Triploidy
Micrognathia, Narrow mouth, Hydrocephalus, Macroglossia, Meningocele, Holoprosencephaly, Wide mou... ORPHA:3376
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Death in infancy OMIM:619046
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Short phi... ORPHA:776
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Short thumb, Micrognathia, Encephalocele, Agenesis of corpus callosum,... OMIM:619148
Gracile Bone Dysplasia
Aniridia, Hydrocephalus, Death in infancy, Microphthalmia OMIM:602361
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Cerebrooculofacioskeletal Syndrome 2
Microcephaly, Micrognathia, Death in childhood, Microphthalmia OMIM:610756
Spondyloenchondrodysplasia
Short distal phalanx of finger, Ventriculomegaly, Dental malocclusion, Delayed eruption of teeth,... ORPHA:1855
Neuroferritinopathy
Eye of the tiger anomaly of globus pallidus, Abnormal basal ganglia morphology, Abnormal caudate ... ORPHA:157846
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Failure to thrive, Hyperplasia of the maxilla, Micrognathia, High palate, Small for gestational age OMIM:620194
Emanuel Syndrome
Broad jaw, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Failure to thriv... ORPHA:96170
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Abnormal cortical gyration, Short thumb, Absent hand, Amelia, Absent septum pe... ORPHA:2538
Microphthalmia/Coloboma 12
Ventriculomegaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of t... OMIM:120200
Acromelic Frontonasal Dysplasia
Ventriculomegaly, Hypopituitarism, Median cleft palate, Encephalocele, Agenesis of corpus callosu... ORPHA:1827
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Joubert Syndrome 22
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Coloboma, Microphthalmia, Agenesis ... OMIM:615665
Braddock-Carey Syndrome 2
Microcephaly, Retrognathia, Microphthalmia OMIM:619981
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Agenesis of cerebellar vermis, Encephalocele, Agenesis of corpus callosum ORPHA:228390
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Optic atrophy, Neuronal loss in basal ganglia, Focal T2 h... ORPHA:506
Tay-Sachs Disease
Optic atrophy, Ventriculomegaly, Global brain atrophy, Hypointensity of cerebral white matter on ... ORPHA:845
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Gait disturbance, Hydrocephalus ORPHA:272
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Decr... ORPHA:763
Fg Syndrome Type 1
Small pituitary gland, Ventriculomegaly, Broad-based gait, Dental crowding, Long philtrum, Umbili... ORPHA:93932
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Micrognathia, Microdontia, Hydrocephalus, Communicating hydrocephalus OMIM:112240
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar hyp... OMIM:300896
Neurofaciodigitorenal Syndrome
Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Mandibular prognathia, Abnormality... ORPHA:2673
Cataract 9, Multiple Types
Iris coloboma, Microphthalmia OMIM:604219
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, Open mouth, Thin upper lip vermilion, Hydrocephalus, High palate OMIM:300558
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida, Cleft palate, Non-midline cleft of the upper lip ORPHA:2476
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Hydrocephalus ORPHA:83473
Fraser Syndrome 1
Abnormal cortical gyration, Dental malocclusion, Bilateral microphthalmos, Aplasia/Hypoplasia of ... OMIM:219000
Cat-Eye Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:195
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Ventriculomegaly, Dental malocclusion, Failur... ORPHA:444072