Registered for phenotyping at IMPC

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

Gene Summary

Name:
Fez family zinc finger 2
Synonyms:
forebrain embryonic zinc finger,  Fez,  Fezl,  Zfp312

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 Fezf2 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 Fezf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Abnormality of the basal ganglia, Decreased thalamic volume, Hypopla... OMIM:618646
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplastic corpus callosum, Polymicrogy... OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Microcephaly 25, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microcephaly, Attention deficit hyperactivity disorder OMIM:618351
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:171703
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Microcephaly, Cerebral atrophy, Postnatal growth retardation OMIM:614023
Mental Retardation, Autosomal Recessive 3
Progressive microcephaly, Hyperactivity OMIM:608443
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of the basal ganglia, Agenesis of ... ORPHA:101029
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Cortical dysplas... OMIM:608716
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar vermis hyp... OMIM:611603
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short stature, Hyperactivity DECIPHER:19
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus callosum, Hydrocephalus OMIM:600348
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia, Bradykinesia, Basal ganglia calcification, Generalized dysto... OMIM:618824
Mental Retardation, Autosomal Dominant 33
Microcephaly, Short stature, Hyperactivity OMIM:616311
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
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Hyperactivity, Microcepha... OMIM:616657
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum, Partial agenesis of the c... ORPHA:85179
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebra... OMIM:618492
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral cortical a... OMIM:618193
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Partial agenesis ... OMIM:304100
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogy... ORPHA:250972
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Torticollis, Leukoencephalopathy OMIM:613724
Neuroferritinopathy
T2 hypointense thalamus, Dystonia, Abnormal caudate nucleus morphology, Difficulty walking, Dysph... ORPHA:157846
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:300067
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum OMIM:600329
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Intr... OMIM:619057
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Hypoplasia of the corpus callosum, Abnormal corpus callosum morphology, Polymicrogyri... OMIM:604317
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Partial agenesis of the corpus cal... OMIM:616051
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Micro... OMIM:617090
Insulin-Like Growth Factor I Deficiency
Intrauterine growth retardation, Microcephaly, Short stature, Hyperactivity OMIM:608747
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Simplified gyral pattern, Hyperactivity, Microcephaly,... OMIM:613402
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi... OMIM:619072
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... OMIM:218670
Leptin Receptor Deficiency
Polyphagia, Abnormal hypothalamus morphology, Pituitary hypothyroidism, Abnormal eating behavior,... OMIM:614963
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agene... ORPHA:1528
Developmental And Epileptic Encephalopathy 88
Progressive microcephaly, Inferior vermis hypoplasia, Partial agenesis of the corpus callosum, Hy... OMIM:618959
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern OMIM:616681
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Immunodeficiency 8
Hyperactivity OMIM:615401
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Simplified gyral pattern, Agen... OMIM:619302
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Type II lissencephaly, Postnatal growth retardation, Torticollis, Spastic ataxia, Hypop... ORPHA:300570
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Masa Syndrome
Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum OMIM:211200
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Corticospinal tract hypoplasia, Aqueductal... OMIM:307000
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Mental Retardation, Autosomal Dominant 22
Microcephaly, Agenesis of corpus callosum OMIM:612337
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the pons OMIM:617669
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:612948
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles, Agenesis of corpus callosum, Aplasia/Hypoplasia of... OMIM:300864
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:262767
Isolated Growth Hormone Deficiency, Type V
Microcephaly, Short stature, Postnatal growth retardation, Decreased response to growth hormone s... OMIM:618160
Hydrolethalus Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anencephaly OMIM:614120
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus ... OMIM:619301
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Microcephaly,... OMIM:225790
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Growth delay, Cerebral atrophy, Dysphagia, ... ORPHA:135
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Microcephaly, Parietal cortical atrophy, Agenesis of corpus callosum, Frontal cortical atrophy OMIM:618766
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Short stature, Postnatal growth retardation OMIM:616113
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypopla... ORPHA:255138
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Holoprosencephaly 11
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:614226
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions, Short... ORPHA:557003
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Cerebral cortical atrophy, Hydranen... ORPHA:2570
Autosomal Recessive Primary Microcephaly
Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes ORPHA:2512
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Optic nerve hypoplasia, Spina bifida occulta, Microcephaly, Agene... OMIM:618736
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Cortical dysplasia, Short stature, Postnatal growth retardation OMIM:608278
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Difficulty walking, Hypoplasia of the corpus callosum, Abnormal cerebral white... ORPHA:254930
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Smith-Magenis syndrome
Short stature, Hyperactivity DECIPHER:8
Glycine Encephalopathy
Agenesis of corpus callosum OMIM:605899
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Hydranencephaly
Dysgenesis of the thalamus, Lethargy, Abnormal corpus striatum morphology, Hypoplastic hippocampu... ORPHA:2177
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Agenesis of corp... OMIM:182230
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, Dysphagia, Cerebral atrophy, Ataxia, Uns... ORPHA:1947
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal putamen morphology, Gait disturbance, Cerebral edema ORPHA:88619
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Dysphagia, Abn... ORPHA:79264
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Dy... ORPHA:70474
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Hypocalcemia, Autosomal Dominant 2
Basal ganglia calcification, Postnatal growth retardation OMIM:615361
Aminoacylase 1 Deficiency
Cerebral atrophy, Hyperactivity OMIM:609924
Warburg Micro Syndrome 1
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral atrophy, Cerebellar hyp... OMIM:600118
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Basal ganglia cysts, Agenesis of corpus callosum, Cerebral atrophy OMIM:312170
Lissencephaly Type Iii And Bone Dysplasia
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Microlissencephaly, Agenesis of corpu... OMIM:601160
Panhypophysitis
Panhypopituitarism, Polydipsia, Pituitary hypothyroidism, Abnormality of the posterior pituitary,... ORPHA:95513
Microcephaly, Amish Type
Progressive microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum OMIM:607196
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Microcephaly, Cerebral h... ORPHA:168486
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Juvenile Huntington Disease
Dystonia, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Bradykinesia, Neuronal ... ORPHA:248111
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Attention deficit hyperactivity disorder, Cerebral white matt... ORPHA:435638
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Aceruloplasminemia
Dystonia, Gait ataxia, Akinesia, Limb ataxia, Blepharospasm, Abnormal thalamic MRI signal intensi... ORPHA:48818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Anencep... OMIM:615287
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum OMIM:617127
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Microcephaly, Agenesis of cor... OMIM:614833
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Ag... OMIM:605013
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
Craniosynostosis 6
Abnormal corpus callosum morphology, Spina bifida occulta, Microcephaly, Agenesis of corpus callo... OMIM:616602
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Cerebral atrophy, Ataxia, Hyperactivity OMIM:615924
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dysphagia, Growth delay, Abnormal thalamic MRI signal intensity, Secondary microcephaly, Abnormal... ORPHA:485421
Mental Retardation, Autosomal Recessive 39
Microcephaly, Short stature, Hyperactivity OMIM:615541
Xq25 Microduplication Syndrome
Hypoplasia of the corpus callosum, Short stature, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hypoplasia of the corpus callosum, Short stature, Hyperactivity OMIM:300979
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicr... ORPHA:88616
Mental Retardation, Autosomal Dominant 43
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Hyperactivity OMIM:616977
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ataxia, Hyperactivity OMIM:300983
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum OMIM:610498
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:610680
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Hyperactivity ORPHA:85288
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Delayed puberty, Short stature, Microcephaly, Broad-based gait ORPHA:2959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Agyria,... OMIM:615249
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Postnatal growth retardation, Intracerebral periventricular cal... ORPHA:168577
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Microcephaly, Short stature, Hyperactivity OMIM:300434
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, P... OMIM:616819
Lissencephaly 6 With Microcephaly
Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Microcep... OMIM:616212
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Foxg1 Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Abnormal corpus callosum morphology, Progressive m... ORPHA:561854
Adenohypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensity, Adrenocorti... ORPHA:95512
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Attention deficit hyperactivity disorder ORPHA:404440
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:164180
Optic Atrophy 11
Ataxia, Short stature, Leukoencephalopathy, Hyperactivity, Microcephaly, Dysmetria OMIM:617302
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:214150
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Abnormal globus pallidus morphology, Microcephaly, Agenesis of... OMIM:618603
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Hypoplasia of the brainstem, Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypopla... ORPHA:86822
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimuation test OMIM:615286
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intensity, Abnormal basa... ORPHA:363558
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus OMIM:618577
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Dystonia, Hypoplasia of the corpus callosum, Diffuse ... ORPHA:506
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hypoplasia of the corpus callosum, Dysphagia, Cerebral ... ORPHA:500180
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Fraxe Intellectual Disability
Intrauterine growth retardation, Short stature, Hyperactivity ORPHA:100973
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Hydrocephalus, Ataxia ORPHA:59315
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Microcephaly, Postnatal growth retardation OMIM:600546
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Primary microcephaly, Cerebral ca... ORPHA:89844
Subependymal Nodular Heterotopia
Meningocele, Polymicrogyria, Focal cortical dysplasia, Myelomeningocele, Partial agenesis of the ... ORPHA:101030
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Amish Lethal Microcephaly
Spina bifida, Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Lissencephaly ORPHA:99742
Baraitser-Winter Syndrome 2
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:614583
Sotos Syndrome 3
Hyperactivity OMIM:617169
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Hydrocephalus, Polymicrogyria, Decreas... ORPHA:370959
Alazami-Yuan Syndrome
Microcephaly, Short stature, Hyperactivity OMIM:617126
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum ORPHA:166024
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Growth delay, Ataxia, Hyperactivity, Microcephaly OMIM:612716
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Japanese Encephalitis
Abnormality of thalamus morphology, Dystonia, Focal T2 hyperintense thalamic lesion, Abnormality ... ORPHA:79139
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the optic tract, Partial agenesis of the corpus callosum, Primary microcephaly, Cer... ORPHA:500144
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Primary microcephaly, Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum ORPHA:466688
Orofaciodigital Syndrome V
Agenesis of corpus callosum OMIM:174300
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Agenesis of corpus callosum OMIM:600638
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Partial agenesis of the corpus callosum OMIM:245349
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Holoprosencephaly 4
Absent nasal septal cartilage, Depressed nasal tip, Depressed nasal bridge OMIM:142946
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Abnormal cerebral ... OMIM:618476
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Abnormal periv... ORPHA:83597
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum OMIM:607131
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Agenesis of corpus callosum ORPHA:261519
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus OMIM:218350
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:444013
Craniopharyngioma
Polyphagia, Abnormal hypothalamus morphology, Proportionate short stature, Enlarged pituitary gla... ORPHA:54595
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Small cerebral cortex, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum OMIM:617360
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Partial agenesis of the corpus callosum OMIM:618346
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Ataxia, Cessation of head growth, Hyperactivity, Broad-based gait ORPHA:411515
Tay-Sachs Disease
Inability to walk, Dystonia, Hypointensity of cerebral white matter on MRI, Dysphagia, Gait distu... ORPHA:845
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Microcephaly, Short stature, Hyperactivity OMIM:618342
Mental Retardation, Buenos Aires Type
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:249630
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Hyperactivity,... ORPHA:369939
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus OMIM:207950
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Jaberi-Elahi Syndrome
Microcephaly, Agenesis of corpus callosum OMIM:617988
Agnathia-Otocephaly Complex
Holoprosencephaly, Agenesis of corpus callosum OMIM:202650
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus OMIM:175700
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hypoplasia of the corpus callosum, Cortical dysplasia, Hyperactivity, Microcephaly, Broad-based gait ORPHA:457260
Chromosome 3Q29 Deletion Syndrome
Microcephaly, Gait ataxia, Hyperactivity OMIM:609425
Lissencephaly, X-Linked, 2
Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300215
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Abnormal thalamic MRI signal intensity ORPHA:70595
6Q25 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:251056
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Hydrocephalus, Fusion of the left and right thal... OMIM:610828
Ck Syndrome
Pachygyria, Polymicrogyria, Hyperactivity, Microcephaly, Abnormal cerebral cortex morphology ORPHA:251383
Meckel Syndrome 12
Microcephaly, Cerebral hypoplasia, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:616258
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Frontonasal Dysplasia 1
Lipoma of corpus callosum, Agenesis of corpus callosum OMIM:136760
Phenylketonuria
Microcephaly, Cerebral calcification, Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopituitarism OMIM:603671
Hydrolethalus
Agenesis of corpus callosum, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Hydrocephalus ORPHA:2189
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Posterior pituitary agenesis, Anterior p... ORPHA:563612
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum ORPHA:521308
4Q21 Microdeletion Syndrome
Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:238750
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Microcephaly, Abnormality of the diencephalon ORPHA:2165
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Basal ganglia cysts, Agenesis of corpus callosum OMIM:613623
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Hydrocephalus, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cort... OMIM:613001
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:990
Mental Retardation, Autosomal Recessive 61
Hypoplasia of the corpus callosum, Secondary microcephaly, Hyperactivity OMIM:617773
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum OMIM:616239
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Cerebellar hypo... ORPHA:899
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum OMIM:619074
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Ataxia, Hydrocephalus, Short stature ORPHA:2720
Curry-Jones Syndrome
Hemimegalencephaly, Polymicrogyria, Megalencephaly, Agenesis of corpus callosum OMIM:601707
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypoplasia of the nasal bo... ORPHA:1134
Mental Retardation, Autosomal Recessive 13
Hypoplasia of the corpus callosum, Secondary microcephaly, Hyperactivity OMIM:613192
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Hyperactivit... ORPHA:73272
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum OMIM:218000
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Polymicrogyria, Agenes... OMIM:156810
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Corpus callosum atrophy, Ataxia, Cerebral ... ORPHA:228360
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus ... OMIM:609053
Intellectual Developmental Disorder, Autosomal Dominant 65
Dysgenesis of the hippocampus, Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Arnold-Chiari Malformation Type Ii
Hydrocephalus, Aqueductal stenosis, Meningocele, Polymicrogyria, Cortical dysplasia, Myelomeningo... ORPHA:1136
2Q23.1 Microdeletion Syndrome
Polyphagia, Growth delay, Ataxia, Short stature, Hyperactivity, Microcephaly ORPHA:228402
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Polymi... OMIM:300354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Hypoplasia of the ... OMIM:614643
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplas... ORPHA:2822
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Hyperactivity OMIM:300558
Meningioma
Focal T2 hypointense thalamic lesion, Hydrocephalus, Difficulty walking, Enlarged pituitary gland... ORPHA:2495
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Cerebral cortical atrophy, Birth length less than 3rd percentile, Short... OMIM:614104
Fumarase Deficiency
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebral atrophy, Polymicrogyria, Micro... OMIM:606812
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Holoprosencephaly,... OMIM:253800
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum OMIM:147950
X-Linked Lissencephaly With Abnormal Genitalia
Microcephaly, Pachygyria, Agenesis of corpus callosum ORPHA:452
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Subcortical cerebral atrophy, Abnormality of the basal ganglia, ... ORPHA:1929
Ck Syndrome
Microcephaly, Polymicrogyria, Pachygyria, Hyperactivity OMIM:300831
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Baraitser-Winter Syndrome 1
Microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:243310
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral cortical a... ORPHA:485350
Autism Spectrum Disorder Due To Auts2 Deficiency
Microcephaly, Attention deficit hyperactivity disorder, Short stature, Hyperactivity ORPHA:352490
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:77298
Vici Syndrome
Cerebral cortical atrophy, Cerebellar hypoplasia, Agenesis of corpus callosum, Hypoplasia of the ... ORPHA:1493
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:613735
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
1Q44 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:238769
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperintens... ORPHA:481152
Intellectual Developmental Disorder, X-Linked 98
Growth delay, Secondary microcephaly, Ataxia, Hyperactivity, Microcephaly OMIM:300912
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Progressive microcephaly, Broad-based gait, Hyperactivity OMIM:617865
Ring Chromosome 22 Syndrome
Microcephaly, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:1446
Joubert Syndrome With Renal Defect
Polymicrogyria, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydrocephalus ORPHA:220497
Marden-Walker Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior vermis hypoplasia, Microcephaly, Age... OMIM:248700
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, ... ORPHA:468631
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Short stature, Hype... ORPHA:391307
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly OMIM:616975
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
Infantile Neuroaxonal Dystrophy
Choking episodes, Dystonia, Abnormal cerebral white matter morphology, Gait disturbance, Ataxia, ... ORPHA:35069
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Cerebral atrophy, Ataxia, Limb dystonia, Hyperactivity, Caudate atrophy ORPHA:363400
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the corpus callosum, Fusion of the left and right thalami, Secondary microcephaly OMIM:619306
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Absent septum pellucidum, Anterior pituitary hypoplasia, Op... ORPHA:3157
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum OMIM:613174
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Partial absence of... OMIM:613150
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Microcephaly, Ataxia, Hyperactivity ORPHA:530983
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Dysphagia, Cerebral atrophy, ... OMIM:610217
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Agenesis of corpus callosum ORPHA:261144
Emanuel Syndrome
Hydrocephalus, Abnormal cerebral white matter morphology, Cerebral atrophy, Microcephaly, Agenesi... ORPHA:96170
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Microcephaly, Hyperactivity OMIM:618718
Rubinstein-Taybi Syndrome 2
Microcephaly, Hyperactivity OMIM:613684
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Cerebellar vermis hypoplasia, Polymicrogyria, Abnormality of the basal... ORPHA:157
Microphthalmia With Brain And Digit Anomalies
Microcephaly, Inferior vermis hypoplasia, Agenesis of corpus callosum ORPHA:139471
Coffin-Siris Syndrome 11
Agenesis of corpus callosum OMIM:618779
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Microcephaly, Agenesis of corpus callosum OMIM:300004
Acromelic Frontonasal Dysplasia
Hypopituitarism, Anterior pituitary hypoplasia, Meningocele, Hypoplasia of the olfactory bulb, Ag... ORPHA:1827
Mend Syndrome
Hydrocephalus, Short stature, Hyperactivity OMIM:300960
Graves Disease, Susceptibility To, 1
Polyphagia, Hyperactivity OMIM:275000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Optic nerve hypop... OMIM:301056
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Anterior pituitary hypoplasia, Optic n... OMIM:206900
Chromosome 15Q25 Deletion Syndrome
Growth delay, Attention deficit hyperactivity disorder, Short stature, Hyperactivity OMIM:614294
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Short stature, Hyperactivity ORPHA:3077
Trisomy 1Q
Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus ORPHA:261344
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Microcephaly, Broad-based gait, Hyperactivity OMIM:300958
Desmosterolosis
Pachygyria, Hydrocephalus, Absent septum pellucidum, Polymicrogyria, Abnormal cortical gyration, ... ORPHA:35107
Nizon-Isidor Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618872
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypoplasia of the corpus callosum, Dysphagia, Ataxia, Abnormal eating behavior, Cessation of head... ORPHA:98794
Joubert Syndrome With Ocular Defect
Polymicrogyria, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydrocephalus ORPHA:220493
Temtamy Syndrome
Agenesis of corpus callosum OMIM:218340
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogyria, Microcephaly, Agenesis o... OMIM:264480
X-Linked Creatine Transporter Deficiency
Dystonia, Ataxia, Short stature, Hyperactivity, Microcephaly, Athetosis ORPHA:52503
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Subcortical cerebral atrophy, Cerebral cortical atrophy, Microcephaly, ... ORPHA:96147
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity ORPHA:101039
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Cerebellar vermis hypoplasia, Intracerebral periventricular calcificat... ORPHA:228308
Radio-Tartaglia Syndrome
Microcephaly, Agenesis of corpus callosum OMIM:619312
Potocki-Lupski Syndrome
Hypoplasia of the corpus callosum, Oral-pharyngeal dysphagia, Short stature, Hyperactivity, Micro... OMIM:610883
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Microcephaly, Short stature, Hyperactivity OMIM:618089
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618419
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Hypoplasia of the ... OMIM:236670
Microform Holoprosencephaly
Holoprosencephaly, Panhypopituitarism, Microcephaly, Agenesis of corpus callosum ORPHA:280200
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Microcephaly, Partial agenesis of the corpus callosum OMIM:234050
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Agenesis of corpus callosum, Hydrocephalus ORPHA:3301
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Micr... ORPHA:314679
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Intrauterine growth retardation, Hyperactivity OMIM:615824
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Intracerebral periventricular calcifications, Polymicrogyria, Microcephaly, ... OMIM:608836
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Bohring-Opitz Syndrome
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus ... OMIM:605039
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly OMIM:618651
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Cavum septum pellucidum, Dystonia, Growth delay, Elevated circulating... ORPHA:209905
Chromosome 13Q33-Q34 Deletion Syndrome
Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Anencephaly OMIM:619148
Sotos Syndrome 1
Cavum septum pellucidum, Partial agenesis of the corpus callosum OMIM:117550
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Hydrocephalus ORPHA:1812
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum ORPHA:261236
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral atrophy, Microcephaly, ... OMIM:615802
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Decreased response ... OMIM:617260
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the basal ganglia, Thalamic hemorrhage, Cerebral calcification ORPHA:464321
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Hypoplasia of olfactory tra... ORPHA:314621
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Dilated third ventr... ORPHA:464738
Pitt-Hopkins-Like Syndrome 1
Cortical dysplasia, Focal cortical dysplasia, Ataxia, Hyperactivity OMIM:610042
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Septo-optic d... OMIM:301043
Stromme Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Optic nerve hypoplasia, Micro... OMIM:243605
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum OMIM:222448
Intellectual Disability-Strabismus Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Decreased response ... ORPHA:363528
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity ORPHA:85327
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum,... ORPHA:1692
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum OMIM:309801
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Microcephaly, Cerebra... OMIM:257300
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Myoclonic-Astatic Epilepsy
Ataxia, Unsteady gait, Hyperactivity, Microcephaly, Attention deficit hyperactivity disorder ORPHA:1942
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:217980
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Growth delay, Cerebral atrophy, Hyperactivity, Microcephaly OMIM:103050
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Short stature, Decreased response to growth hormone stimuation test OMIM:601853
Apert Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Megalencephaly, Abnormal morphology of the... OMIM:101200
Opitz Gbbb Syndrome, Type I
Agenesis of corpus callosum OMIM:300000
Beare-Stevenson Cutis Gyrata Syndrome
Agenesis of corpus callosum, Hydrocephalus OMIM:123790
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Hydrocephalus, Abnormal cortical gyration, Microcepha... OMIM:311200
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Agenesis of corpus callosum OMIM:309520
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Mild short stature, Hyperactivity OMIM:614613
Apert Syndrome
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum ORPHA:87
Vici Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Schizencephaly OMIM:242840
Seckel Syndrome 1
Pachygyria, Hyperactivity, Proportionate short stature, Postnatal growth retardation, Large basal... OMIM:210600
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Inverted Duplicated Chromosome 15 Syndrome
Microcephaly, Growth delay, Hyperactivity ORPHA:3306
Holoprosencephaly 2
Holoprosencephaly, Anterior pituitary agenesis, Cerebellar hypoplasia, Microcephaly, Agenesis of ... OMIM:157170
Monosomy 13Q34
Microcephaly, Agenesis of corpus callosum ORPHA:96168
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Hyperactivity OMIM:619239
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Abnormal periventricular white matter morphology, Difficulty walking, Dysphagi... ORPHA:139396
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Corpus callosum atrophy, Gait disturbance, Cerebral atrophy, Ataxia, Periventr... ORPHA:168491
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Olivopontocerebellar hypoplasia, Optic nerve hy... ORPHA:457284
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Agenesis of corpus callosum ORPHA:556955
Curry-Jones Syndrome
Agenesis of corpus callosum ORPHA:1553
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Orofaciodigital Syndrome Type 5
Microcephaly, Agenesis of corpus callosum ORPHA:2919
19P13.3 Microduplication Syndrome
Growth delay, Cerebral atrophy, Hyperactivity, Intrauterine growth retardation, Microcephaly ORPHA:447980
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Absent septum pellucidum, Holoprosencephaly, Anterior pituitary... ORPHA:95494
Kleefstra Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:261494
8P Inverted Duplication/Deletion Syndrome
Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:96092
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Agenesis of corpus callosum, Cerebral white matter atrophy, Increased caud... ORPHA:3008
Desmosterolosis
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Partial agenesis of the c... OMIM:602398
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Cerebellar vermis hypoplasia, Dilation of late... OMIM:304050
Xp21 Deletion Syndrome
Agenesis of corpus callosum ORPHA:261476
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Megalencephaly, Abnormal corpus callosum morphology, Polymicrogyria, Hyperactivity ORPHA:457485
47,Xyy Syndrome
Increased circulating gonadotropin level, Hydrocephalus, Attention deficit hyperactivity disorder... ORPHA:8
Hartsfield Syndrome
Microcephaly, Agenesis of corpus callosum, Lobar holoprosencephaly, Gonadotropin deficiency OMIM:615465
Alexander Disease
Hydrocephalus, Megalencephaly, Aqueductal stenosis, Cerebral calcification, Agenesis of corpus ca... ORPHA:58
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Dysplastic corpus callo... OMIM:618820
Genitopatellar Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:85201
Melas
Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebral white matter, Cerebral cort... ORPHA:550
Holoprosencephaly 9
Panhypopituitarism, Holoprosencephaly, Anterior pituitary agenesis, Decreased response to growth ... OMIM:610829
Chromosome 10Q26 Deletion Syndrome
Postnatal growth retardation, Short stature, Hyperactivity, Microcephaly, Broad-based gait OMIM:609625
Pediatric-Onset Graves Disease
Polyphagia, Hyperactivity, Intrauterine growth retardation, Microcephaly, Polydipsia ORPHA:525731
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:847
Encephalocraniocutaneous Lipomatosis
Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy, Cerebral cortical atrop... ORPHA:2396
Amoebiasis Due To Free-Living Amoebae
Lethargy, Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, Ataxia, En... ORPHA:68
21Q22.11Q22.12 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:261323
Intellectual Disability, Birk-Barel Type
Dysphagia, Hyperactivity ORPHA:166108
Angelman Syndrome
Inability to walk, Polyphagia, Dysphagia, Ataxia, Cerebral dysmyelination, Cerebral cortical atro... ORPHA:72
Mycophenolate Mofetil Embryopathy
Agenesis of corpus callosum, Hydrocephalus ORPHA:268249
15Q Overgrowth Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Citrullinemia Type Ii
Lethargy, Abnormal eating behavior, Hyperactivity, Cerebral edema, Delayed menarche ORPHA:247585
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum OMIM:618733
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Abnormal corpus callosum mor... ORPHA:261552
13Q12.3 Microdeletion Syndrome
Intrauterine growth retardation, Short stature, Hyperactivity ORPHA:412035
Fryns Syndrome
Cerebral cortical atrophy, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:2059
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Decreased response to growth hormone stimuation test OMIM:615873
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Agenesis of corpus callosum ORPHA:52055
Cono-Spondylar Dysplasia
Partial agenesis of the corpus callosum ORPHA:420794
Marshall-Smith Syndrome
Cerebral atrophy, Agenesis of corpus callosum, Macrogyria OMIM:602535
Craniofrontonasal Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:304110
Fanconi Anemia, Complementation Group D2
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:227646
Toriello-Lacassie-Droste Syndrome
Agenesis of corpus callosum, Absent septum pellucidum ORPHA:3339
16P12.1P12.3 Triplication Syndrome
Intrauterine growth retardation, Attention deficit hyperactivity disorder, Hyperactivity, Decreas... ORPHA:485405
Glass Syndrome
Broad-based gait, Microcephaly, Short stature, Hyperactivity OMIM:612313
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Agenesis of corpus callosum, Pituitary hypothyroidism, Ectopic posterior pitu... ORPHA:226307
Wiedemann-Steiner Syndrome
Rhizomelia, Dysphagia, Postnatal growth retardation, Abnormal corpus callosum morphology, Short s... ORPHA:319182
Spondylometaphyseal Dysplasia, Sedaghatian Type
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:93317
Mosaic Trisomy 8
Agenesis of corpus callosum ORPHA:96061
Angelman Syndrome
Progressive gait ataxia, Cerebral cortical atrophy, Hyperactivity, Secondary microcephaly, Broad-... OMIM:105830
Neurodegeneration With Brain Iron Accumulation 1
Eye of the tiger anomaly of globus pallidus, Dystonia, Akinesia, Dysphagia, Gait disturbance, Ble... OMIM:234200
Brooks-Wisniewski-Brown syndrome
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:300612
Trichothiodystrophy
Cerebral dysmyelination, Cerebral cortical atrophy, Periventricular leukomalacia, Microcephaly, P... ORPHA:33364
1Q21.1 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:250989
Marden-Walker Syndrome
Hydrocephalus, Absent septum pellucidum, Cerebellar hypoplasia, Microcephaly, Agenesis of corpus ... ORPHA:2461
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Optic nerve hypopl... ORPHA:508498
Meckel Syndrome, Type 1
Hydrocephalus, Cerebellar hypoplasia, Anencephaly, Olfactory lobe agenesis, Microcephaly, Cerebra... OMIM:249000
Right Atrial Isomerism
Agenesis of corpus callosum OMIM:208530
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Intrauterine growth retardation, Abnormal cerebral white matter morphology, Hyperactivity ORPHA:363686
Bohring-Opitz Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Dandy-Walker malfor... ORPHA:97297
Opitz Gbbb Syndrome, Type Ii
Cavum septum pellucidum, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypopla... OMIM:145410
Trisomy 8P
Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:264450
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum OMIM:613091
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Rhizomelia, Severe short stature, Disproportionate short-t... ORPHA:239
Acrocallosal Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum OMIM:200990
Hyperlysinemia
Dysphagia, Dysmetria, Short stature, Hyperactivity, Microcephaly, Tip-toe gait ORPHA:2203
Opitz-Kaveggia Syndrome
Hydrocephalus, Partial agenesis of the corpus callosum OMIM:305450
Mucopolysaccharidosis, Type Iiic
Dysphagia, Hyperactivity OMIM:252930
Opitz Gbbb Syndrome
Hypoplasia of the corpus callosum, Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the... ORPHA:2745
Jacobsen Syndrome
Spina bifida, Cerebral atrophy, Pachygyria, Agenesis of corpus callosum ORPHA:2308
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum OMIM:276300
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Agenesis of corpus callosum OMIM:151050
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta, Partial agenesis of the corpus callosum OMIM:300373
Yunis-Varon Syndrome
Pachygyria, Arrhinencephaly, Cerebellar hypoplasia, Microcephaly, Agenesis of corpus callosum OMIM:216340
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus, Hypoplasia of the corpus callosum, Microcephaly, Pineal cyst, Agenes... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus, Hypoplasia of the corpus callosum, Microcephaly, Pineal cyst, Agenes... ORPHA:363958
Hydrolethalus Syndrome 1
Severe hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Abnormal cortical g... OMIM:236680
Hemifacial Microsomia
Agenesis of corpus callosum, Hydrocephalus OMIM:164210
Microgastria-Limb Reduction Defect Syndrome
Arrhinencephaly, Abnormal cortical gyration, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2538
Holoprosencephaly 1
Ethmocephaly, Cerebellar hypoplasia, Alobar holoprosencephaly, Microcephaly, Agenesis of corpus c... OMIM:236100
Semilobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Neural tube defect, Abnormal... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Neural tube defect, Abnormal... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Neural tube defect, Abnormal... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Neural tube defect, Abnormal... ORPHA:93924
Perlman Syndrome
Agenesis of corpus callosum OMIM:267000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:352665
Mucopolysaccharidosis, Type Iiid
Dysphagia, Hyperactivity OMIM:252940
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Microcephaly, Short stature, Hyperactivity ORPHA:85293
Aicardi Syndrome
Aplasia/Hypoplasia of the cerebellum, Pachygyria, Polymicrogyria, Microcephaly, Partial agenesis ... ORPHA:50
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Elevated circulating follicle stimulating hormone level, Elev... ORPHA:168558
Lenz-Majewski Hyperostotic Dwarfism
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum ORPHA:2658
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Elevated circulating follicle stimulating hormone level, Elev... ORPHA:289548
Coffin-Siris Syndrome
Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Simplified gyral pattern ORPHA:1465
Facial Dysmorphism With Multiple Malformations
Agenesis of corpus callosum, Hydrocephalus OMIM:227255
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Phace Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Dandy-W... ORPHA:42775
Histiocytoid Cardiomyopathy
Agenesis of corpus callosum, Hydrocephalus ORPHA:137675
Neu-Laxova Syndrome 1
Spina bifida, Cerebellar hypoplasia, Hydranencephaly, Lissencephaly, Microcephaly, Agenesis of co... OMIM:256520
14Q22Q23 Microdeletion Syndrome
Agenesis of corpus callosum, Anterior pituitary hypoplasia ORPHA:264200
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Stankiewicz-Isidor Syndrome
Pineal cyst, Hyperactivity OMIM:617516
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619194
Fryns Syndrome
Hypoplasia of the optic tract, Arrhinencephaly, Hypoplasia of olfactory tract, Agenesis of corpus... OMIM:229850
7Q11.23 Microduplication Syndrome
Polyphagia, Growth delay, Unsteady gait, Dysmetria, Short stature, Hyperactivity, Simplified gyra... ORPHA:96121
Argininemia
Spastic gait, Postnatal growth retardation, Hyperactivity OMIM:207800
Bone Marrow Failure Syndrome 3
Intrauterine growth retardation, Microcephaly, Short stature, Hyperactivity OMIM:617052
Baller-Gerold Syndrome
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Spina bifida occulta OMIM:218600
Microphthalmia With Linear Skin Defects Syndrome
Microcephaly, Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum ORPHA:2556
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Ataxia, Cerebral cortical atrophy, Unsteady gait, Hippocampal atrophy, Dysmetria, Hyperactivity OMIM:614756
Ring Chromosome 13 Syndrome
Microcephaly, Agenesis of corpus callosum, Anencephaly ORPHA:96176
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Agenesis of corpus callosum ORPHA:280
Monosomy 9P
Microcephaly, Agenesis of corpus callosum ORPHA:261112
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Lipoma of corpus callosum, Agenesis of corpus callosum ORPHA:306542
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Agenesis of corpus callosum OMIM:618748
Orofaciodigital Syndrome Type 1
Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:2750
Choreoacanthocytosis
Frontal cortical atrophy, Hypoplastic hippocampus, Dysphagia, Blepharospasm, Bradykinesia, Lingua... ORPHA:2388
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of cerebellar vermis, Agenesi... OMIM:210710
Yunis-Varon Syndrome
Pachygyria, Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Primary microcephaly, Hypoplas... ORPHA:3472
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Dilated third ventricle, Microcephaly, Open operculum, Dandy-W... ORPHA:434179
Maternal Phenylketonuria
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Hyperactivity ORPHA:2209
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent septum pellucidum, Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical ... ORPHA:2273
Dyrk1A-Related Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Gait disturbance, Anterior pituitary hypoplasia, Primary micro... ORPHA:464306
Structural Heart Defects And Renal Anomalies Syndrome
Microcephaly, Partial agenesis of the corpus callosum OMIM:617478
Wolf-Hirschhorn Syndrome
Cavum septum pellucidum, Hydrocephalus, Absent septum pellucidum, Periventricular cysts, Microcep... OMIM:194190
Simpson-Golabi-Behmel Syndrome
Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:373
Mowat-Wilson Syndrome