Gene Summary

Name:
myristoylated alanine rich protein kinase C substrate
Synonyms:
Macs

IMPC Data Collections

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.

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Adult LacZ

LacZ Images Wholemount

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Human diseases caused by Marcks 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 Marcks by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Dysplastic corpus cal... OMIM:604213
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
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Abnormal neuron morphology... ORPHA:329228
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Decreased head circumference, Ventriculomegaly, Abnormal cerebral white matter morphology, Dyspla... ORPHA:500166
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Megalencephaly, Polymicrogyria, Macrocephaly, Hydrocephalus OMIM:615938
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Macrocephaly, Hemimegalencep... OMIM:615937
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Macrocephaly, Subcortical band heterotopia, Agen... OMIM:600348
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Calvarial skull defect, Holoprosencephaly, Om... ORPHA:945
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Macrocephaly, Microcep... OMIM:618709
Corpus Callosum, Agenesis Of
Frontal bossing, Camptodactyly, Joint contracture of the hand, Macrocephaly, Microcephaly, Agenes... OMIM:217990
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Type II lissencephaly, Hypoplasia of the corpus callosum, Cerebellar... ORPHA:300570
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Flexion contracture, Dysplastic corpus callosum, Optic atrophy OMIM:613162
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Acrania, Omphalocele, D... OMIM:618820
Lissencephaly 1
Hypoplasia of the brainstem, Pachygyria, Abnormal cerebral white matter morphology, Ventriculomeg... OMIM:607432
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus... ORPHA:171703
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Death in infancy, Hydrocephalus OMIM:258320
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Small cerebral cortex... OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dyspla... OMIM:615763
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:611603
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Frontal bossing,... ORPHA:3207
Microcephaly 19, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Simplified gyral pattern OMIM:617800
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:618730
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Large fontanelles, Platybasia, Cloverleaf skull, Omphalocele, Agenesis of corpus... ORPHA:93267
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Macrocephaly, Microcephaly, Agenesis of corpus callosum OMIM:303350
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the brainstem, Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculo... OMIM:618677
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Calvarial skull defect, Cerebral calcifi... ORPHA:1931
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:617051
Porencephaly
Ventriculomegaly, Porencephalic cyst ORPHA:2940
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dysphagia, Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Optic atrophy, Agenesis of ... OMIM:617669
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Craniotelencephalic Dysplasia
Craniosynostosis, Hydrocephalus, Frontal bossing, Arrhinencephaly, Cerebellar hypoplasia, Septo-o... ORPHA:1528
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Cerebral cortical atrophy, Ventriculomegaly, Optic atrophy ORPHA:2732
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Diffuse swelling of cerebral white matter, ... OMIM:613925
Trigonocephaly 1
Microcephaly, Craniosynostosis, Trigonocephaly, Omphalocele OMIM:190440
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hydrocephalus, Camptodactyly of toe, Frontal bossing, Ventriculomegaly, Abnorma... OMIM:175700
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Flat occiput, Dilation o... OMIM:618736
Congenital Hydrocephalus
Colpocephaly, Frontal bossing, Ventriculomegaly, Small cerebral cortex, Macular hypoplasia, Abnor... ORPHA:2185
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly, Cerebral atrophy OMIM:612900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Flexion contracture, Retinal dysplasia, Optic atrophy, H... OMIM:613154
Masa Syndrome
Camptodactyly of finger, Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Wide anterior fontanel, Omphalocele, Umbilical hernia,... ORPHA:2143
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Cerebral cortical atrophy, Inguinal herni... ORPHA:1568
Developmental And Epileptic Encephalopathy 49
Frontal bossing, Ventriculomegaly, Cerebral calcification, Microcephaly, Optic atrophy, Hydroceph... OMIM:617281
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Simplified gyral pattern, Microcephaly, Prog... OMIM:613402
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypo... OMIM:616486
Schisis Association
Spina bifida, Omphalocele, Anencephaly, Congenital diaphragmatic hernia, Microcephaly ORPHA:63862
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Death in infancy, Agenesis of corpus callosum ORPHA:85334
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
Bowen-Conradi Syndrome
Microcephaly, Ventriculomegaly, Death in infancy, Camptodactyly of finger ORPHA:1270
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Miller-Dieker Syndrome
Lissencephaly, Hypoplasia of the corpus callosum, Omphalocele, Cerebral cortical atrophy ORPHA:531
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Wide anterior fontanel, Midface retrusion, Omphalocele... OMIM:222448
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, M... OMIM:617090
Combined Oxidative Phosphorylation Deficiency 39
Arthrogryposis multiplex congenita, Pachygyria, Ventriculomegaly, Flexion contracture, Simplified... OMIM:618397
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly, Cerebral calcification, Microcephaly, Dolichocephaly, Decreased response to gro... ORPHA:1261
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Partial... ORPHA:85179
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Hydrocephalus, Frontal bossing, Midface retrusio... OMIM:610828
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Optic nerv... ORPHA:250972
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Cerebellar hypoplasia, Retinal dysplasia, Hydrocephalus OMIM:614830
Trisomy 1Q
Camptodactyly of finger, Hydrocephalus, Frontal bossing, Ventriculomegaly, Cerebellar hypoplasia,... ORPHA:261344
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Persistent open anterior fontanelle, Agenesi... ORPHA:262767
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly, Flexion contracture, Cerebellar hyp... OMIM:225790
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Macrocephaly, Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Hemimegalencephaly
Pachygyria, Ventriculomegaly, Polymicrogyria, Hyperintensity of cerebral white matter on MRI, Foc... ORPHA:99802
Triploidy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Omphalocele, Meningocele, Abnormali... ORPHA:3376
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Partial agenesis ... OMIM:304100
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contracture, Microcephaly, Cerebral ... OMIM:617977
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Pachygyria, Agyria, Enlarged sylvian cistern ORPHA:1084
Craniosynostosis 6
Craniosynostosis, Plagiocephaly, Abnormal corpus callosum morphology, Delayed cranial suture clos... OMIM:616602
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis,... OMIM:300864
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Macrocephaly, Hydrocephalus, Dandy-Walker m... OMIM:617967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Abnormal cerebral white matter mo... OMIM:613153
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly, Cerebellar vermis hypoplasia, Death in infancy, Microcephaly, Opt... ORPHA:99742
Mucolipidosis Iv
Retinal degeneration, Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Optic at... OMIM:252650
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive microcephaly, Cerebral cortical ... OMIM:617862
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Ventri... ORPHA:272
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hydrocephalus, Frontal bossing, Umbilical hernia, Congenital diaphragmatic hern... ORPHA:380
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Omphalocele, Absent septum pellucidum OMIM:601357
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of the basal ganglia, Agenesis of ... ORPHA:101029
Craniofacial Dyssynostosis With Short Stature
Abnormal shape of the occiput, Hydrocephalus, Frontal bossing, Midface retrusion, Hypoplasia of t... OMIM:218350
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Ventriculomegaly, Pachygyria, Pigmentary retinopathy OMIM:617613
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Arthrogryposis multiplex congenita, Frontal cortical atrophy, Death in infancy, Parietal cortical... OMIM:618766
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Ventriculomegaly, Plagiocephaly, Inguinal hernia, Brachycephal... OMIM:618603
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Midface retrusion, Hypoplasia of the corpus callosum, Ventric... OMIM:618291
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Midface retrusion, Hypoplasia of the corpus callosum, Ventriculomegaly, Unilambdoi... OMIM:618577
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Hydrocephalus, Death in infancy, Cerebellar hypoplasia, Simplified g... OMIM:619302
Lissencephaly, X-Linked, 1
Pachygyria, Death in infancy, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly OMIM:617391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... OMIM:615287
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Alobar holoprosencephaly, Plagiocephaly, Brachycephaly, Dolichocephaly, Agenesi... OMIM:615433
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Craniosynostosis, Ventriculomegaly, Retinal degeneration, Cerebral calcification, Decreased respo... OMIM:225755
Hydrocephalus With Associated Malformations
Omphalocele, Hydrocephalus OMIM:236640
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly, Cerebellar hypoplasia OMIM:618383
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Retinal dysplasia, Macrocephaly at birth, Hydrocephalus ORPHA:324416
Pontocerebellar Hypoplasia, Type 9
Midface retrusion, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy... OMIM:615809
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Frontal bossing, Ventriculomegaly, Cerebral atrophy, Microcephaly, Agenesis ... OMIM:312170
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebra... OMIM:618492
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Anencephaly OMIM:614120
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Umbilical herni... OMIM:618354
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Isolated Trigonocephaly
Trigonocephaly, Omphalocele ORPHA:3366
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Optic atrophy, P... OMIM:617507
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Craniosynostosis, Aqueductal stenosis, Microcephaly, Agenesi... ORPHA:1496
Craniotelencephalic Dysplasia
Craniosynostosis, Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve h... OMIM:218670
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Agenesis of corpus callosum, Absent septum pellucidum, Corticospina... OMIM:307000
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar verm... ORPHA:2524
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Omphalocele, Anencephaly, Congenital diaph... ORPHA:63260
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth OMIM:300073
Bilateral Striopallidodentate Calcinosis
Microcephaly, Ventriculomegaly, Cerebral calcification ORPHA:1980
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Distal Trisomy 15Q
Microcephaly, Camptodactyly of finger, Omphalocele ORPHA:1707
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Omphalocele, Polymicrogyria, Microcephal... OMIM:264480
Pettigrew Syndrome
Ventriculomegaly, Flexion contracture, Abnormality of the basal ganglia, Cerebral calcification, ... OMIM:304340
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypopla... ORPHA:255138
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Relative macrocephaly, Omphalocele OMIM:614450
Macdermot-Winter Syndrome
Microcephaly, Ventriculomegaly, Death in infancy, Camptodactyly of finger OMIM:247990
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Frontal bossing, Dysphagia, Ventriculomegaly, Cerebellar vermis hypoplasi... ORPHA:163961
Omphalocele
Omphalocele ORPHA:660
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Cerebellar hypoplasia, Hydranencephaly... OMIM:605013
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Diastasis recti, Elevated circulating luteinizing hormone level, Rod-cone dystrophy, Omphalocele,... OMIM:618419
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Polymicrogyria OMIM:612691
Narp Syndrome
Ventriculomegaly, Retinal pigment epithelial mottling, Cerebral cortical atrophy, Optic disc pall... ORPHA:644
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia, Wide anterior fontanel OMIM:275100
Autosomal Recessive Primary Microcephaly
Pachygyria, Ventriculomegaly, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of corpus c... ORPHA:2512
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Hypoplasia of the corpus callosum, Ventriculomegaly, Death in infancy, M... ORPHA:1495
Caudal Duplication
Spina bifida, Myelomeningocele, Omphalocele ORPHA:1756
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Pigmentary retinopathy, Hypoplasia of the corpu... ORPHA:370968
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Microcep... OMIM:614833
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Flexion contracture, Omphalocele, Brachycephaly, Congenital diaphragmatic... OMIM:263210
17P13.3 Microduplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Inguinal hernia, Frontal bossing ORPHA:217385
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele, Decreased response to growth h... ORPHA:1263
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Camptodactyly, Anterior hypopituitarism, Joint contracture of the hand OMIM:601016
Iniencephaly
Spina bifida, Arthrogryposis multiplex congenita, Holoprosencephaly, Spinal dysraphism, Omphaloce... ORPHA:63259
Carpenter Syndrome 1
Aplasia/Hypoplasia of the corpus callosum, Lambdoidal craniosynostosis, Midface retrusion, Campto... OMIM:201000
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, Death in childhood, Cerebral calcification, Progressive micro... OMIM:610333
Mosaic Trisomy 1
Camptodactyly of finger, Frontal bossing, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Om... ORPHA:1692
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Ventriculomegaly, Cerebral atrophy, Death in infancy OMIM:616034
Robinow Syndrome, Autosomal Recessive 2
Frontal bossing, Midface retrusion, Camptodactyly, Omphalocele, Relative macrocephaly, Ventral he... OMIM:618529
Trisomy 18
Camptodactyly of finger, Spina bifida, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of... ORPHA:3380
Lissencephaly 8
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria,... OMIM:617255
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Ventriculomegaly, Abnormal cereb... OMIM:618476
Hsd10 Disease
Dysphagia, Ventriculomegaly, Frontotemporal cerebral atrophy, Microcephaly, Optic atrophy, Focal ... ORPHA:391417
Xylosidase Deficiency
Microcephaly, Ventriculomegaly OMIM:278900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ventriculome... OMIM:616900
3-Hydroxyisobutyric Aciduria
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly... ORPHA:939
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Progressive macrocephaly, Ventriculomegaly, Megalencephaly, Polymicrogyr... OMIM:602501
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormal retinal morphology, Dysp... ORPHA:89844
Autosomal Recessive Cutis Laxa Type 2A
Pachygyria, Wide anterior fontanel, Thick cerebral cortex, Frontal bossing, Persistent open anter... ORPHA:357058
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Type II lissencephaly, Hydroceph... ORPHA:370959
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Macrocephaly, Agenesis of corpus callosum, Plagiocephaly ORPHA:459074
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Remnants of the hyaloid vascular system, Pachygyria, Type II lissenc... OMIM:614643
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Hypoplasia of the optic tract, Dysphagia, Ventriculomegaly, Cerebral cort... ORPHA:500144
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Flexion contracture, Cerebella... OMIM:615249
1Q44 Microdeletion Syndrome
Biparietal narrowing, Hydrocephalus, Prominent metopic ridge, Optic disc hypoplasia, Frontal boss... ORPHA:238769
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Frontal bossing, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hypoplasi... OMIM:616975
Walker-Warburg Syndrome
Pachygyria, Chorioretinal dysplasia, Hydrocephalus, Absent septum pellucidum, Ventriculomegaly, C... ORPHA:899
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Microc... ORPHA:168486
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Cerebral calcification, Aqueductal stenosis ORPHA:3035
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration OMIM:311000
Gabriele-De Vries Syndrome
Ventriculomegaly, Abnormal cerebral white matter morphology OMIM:617557
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Dysphagia, Myelomeningocele, Agenesis of corpus callosum OMIM:207950
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Brachycephaly, Macrocephaly, Agenesis of corpus callosum OMIM:109120
Omphalocele, X-Linked
Omphalocele OMIM:310980
Familial Scaphocephaly Syndrome, Mcgillivray Type
Midface retrusion, Ventriculomegaly, Trigonocephaly, Macrocephaly, Dolichocephaly ORPHA:168624
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Large fontanelles, Midface retrusion, Frontal bossing, Microcephaly, Agenesis of c... OMIM:612940
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Baraitser-Winter Syndrome 2
Pachygyria, Ventriculomegaly, Trigonocephaly, Secondary microcephaly, Agenesis of corpus callosum... OMIM:614583
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebral dysmyelinat... ORPHA:101070
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Pseudobulbar paralysis, Colpocephaly, Ventriculomegaly, Flexion cont... OMIM:618651
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Ventriculomegaly, Cerebral calcification, Microcephaly, Hydr... ORPHA:858
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Frontal bossing, Ventriculomegaly, Macular hypoplasia, Simplified gyral pattern, Ma... OMIM:615219
Gaba-Transaminase Deficiency
Death in childhood, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar vermis ... OMIM:600118
Lissencephaly 7 With Cerebellar Hypoplasia
Arthrogryposis multiplex congenita, Cerebellar hypoplasia, Agyria, Microcephaly, Agenesis of corp... OMIM:616342
Spastic Paraplegia 47, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ventriculome... OMIM:614066
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Microcephaly, Brachycephaly, Agenesis of corpus callosum OMIM:610680
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Developmental And Epileptic Encephalopathy 70
Cerebral cortical atrophy, Ventriculomegaly, Flexion contracture, Microcephaly OMIM:618298
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Omphalocele, Hydrocephalus, Congenital diaphragmatic hernia ORPHA:1834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Ventriculomegaly, Cerebellar hypoplasia, Microcephaly, Optic atrophy, Hypoplasia of the pons OMIM:613151
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Ventriculomegaly, Abnormal cerebral white matter morphology, Achilles tendon contract... ORPHA:370980
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Ventriculomegaly, Abnormality of retinal pigmentation ORPHA:2515
Mental Retardation, Autosomal Dominant 36
Prominent metopic ridge, Hypoplasia of the corpus callosum, Ventriculomegaly, Plagiocephaly, Micr... OMIM:616362
Holoprosencephaly
Panhypopituitarism, Chorioretinal coloboma, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypopla... ORPHA:2162
Opitz Gbbb Syndrome
Craniosynostosis, Large fontanelles, Prominent metopic ridge, Hypoplasia of the corpus callosum, ... ORPHA:2745
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Spina bifida, Anencephaly ORPHA:2476
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Large fontanelles, Frontal bossing, Camptodactyly, Fl... OMIM:300373
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia, Dilation of lateral ventricles, C... ORPHA:488627
Gm1-Gangliosidosis, Type Ii
Ventriculomegaly, Cerebral atrophy, Optic atrophy OMIM:230600
Combined Oxidative Phosphorylation Deficiency 2
Ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Marshall-Smith Syndrome
Frontal bossing, Midface retrusion, Cerebral atrophy, Omphalocele, Umbilical hernia, Macrogyria, ... OMIM:602535
6Q25 Microdeletion Syndrome
Camptodactyly of finger, Ventriculomegaly, Plagiocephaly, Microcephaly, Agenesis of corpus callosum ORPHA:251056
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Ventriculomegaly, Flexion contracture of toe, Optic atrophy OMIM:619323
Orofaciodigital Syndrome Xv
Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Miller-Dieker Lissencephaly Syndrome
Cavum septum pellucidum, Abnormality of the abdominal wall, Pachygyria, Frontal bossing, Hypoplas... OMIM:247200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Epilepsy, Early-Onset, Vitamin B6-Dependent
Secondary microcephaly, Ventriculomegaly OMIM:617290
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Midface retrusion, Omphalocele, Relative macrocephaly, Prominent occiput, Dolichocephaly OMIM:617895
Holoprosencephaly 11
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:614226
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Midface retrusion, Ventriculomegaly, Cerebellar vermis hypoplasia, Retin... OMIM:619074
Clcn4-Related X-Linked Intellectual Disability Syndrome
Midface retrusion, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, ... ORPHA:485350
3-Methylglutaconic Aciduria, Type Viii
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Death in infancy, Secondar... OMIM:617248
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Arthrogryposis multiplex congenita, Aplasia/Hypoplasia of t... ORPHA:85278
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Frontal cortical atrophy, Partial absence of cerebellar vermis, Ventri... ORPHA:137831
Lissencephaly 6 With Microcephaly
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Simplified gyral... OMIM:616212
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Camptodactyly, Cerebellar vermis hypoplasia, Inguinal hernia, Relative macrocephal... ORPHA:459061
Thoracoabdominal Syndrome
Omphalocele, Anencephaly, Congenital diaphragmatic hernia, Ventral hernia, Hydrocephalus OMIM:313850
Skraban-Deardorff Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:617616
Coach Syndrome 2
Chorioretinal coloboma, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Al-Gazali-Bakalinova Syndrome
Macrocephaly, Inguinal hernia, Agenesis of corpus callosum, Frontal bossing OMIM:607131
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Ventriculomegaly, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Op... OMIM:618253
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Trig... OMIM:619179
Glutaryl-Coa Dehydrogenase Deficiency
Progressive macrocephaly, Communicating hydrocephalus, Abnormal caudate nucleus morphology, Palli... ORPHA:25
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Cerebral atrophy, Death in infancy, Microcephaly, Diffuse cerebral atrophy OMIM:614946
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Frontal bossing, Optic disc hypoplasia, Hypoplasia of the corpus cal... ORPHA:420179
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
3Mc Syndrome 1
Abnormality of the abdominal wall, Lambdoidal craniosynostosis, Wide anterior fontanel, Omphaloce... OMIM:257920
Myopathy, Congenital, Bailey-Bloch
Midface retrusion, Ventriculomegaly, Flexion contracture, Brachycephaly, Microcephaly OMIM:255995
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Simplified gyral pattern, ... OMIM:615760
Even-Plus Syndrome
Midface retrusion, Dysplastic corpus callosum, Brachycephaly, Agenesis of corpus callosum OMIM:616854
Pentalogy Of Cantrell
Omphalocele, Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia ORPHA:1335
Developmental And Epileptic Encephalopathy 89
Hypoplasia of the corpus callosum, Cerebral atrophy, Flexion contracture, Omphalocele, Neonatal d... OMIM:619124
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Death in infancy, Agenesis of corpus callosum OMIM:600329
Acrocallosal Syndrome
Aplasia/Hypoplasia of the cerebellum, Wide anterior fontanel, Aplasia/Hypoplasia of the corpus ca... ORPHA:36
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypopituitarism, Brachy... OMIM:603671
Developmental And Epileptic Encephalopathy 1
Dysphagia, Microcephaly, Ventriculomegaly, Global brain atrophy OMIM:308350
Mental Retardation, Autosomal Dominant 20
Ventriculomegaly, Abnormal cerebral white matter morphology, Abnormal periventricular white matte... OMIM:613443
Pagod Syndrome
Spina bifida, Death in infancy, Omphalocele, Meningocele, Congenital diaphragmatic hernia, Microc... ORPHA:991
Acromelic Frontonasal Dysplasia
Choroid plexus cyst, Large fontanelles, Midline central nervous system lipomas, Ventriculomegaly,... ORPHA:1827
Histidinuria-Renal Tubular Defect Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:2158
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Cerebellar hypoplasia, Omphalocele,... ORPHA:2166
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Large fontanelles, Flat occiput, Polymicrogyria, Macrogyria, Abnormal co... ORPHA:2211
Fryns Syndrome
Ventriculomegaly, Omphalocele, Cerebral cortical atrophy, Congenital diaphragmatic hernia, Agenes... ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contracture,... OMIM:613156
Teebi Hypertelorism Syndrome
Craniosynostosis, Omphalocele, Frontal bossing OMIM:145420
Nasu-Hakola Disease
Ventriculomegaly, Cerebral cortical atrophy, Abnormal adipose tissue morphology, Cerebral calcifi... ORPHA:2770
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta, Ventriculomegaly, Cerebral atrophy, Cerebellar hypopl... OMIM:226750
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:617804
Autosomal Recessive Spastic Paraplegia Type 53
Microcephaly, Ventriculomegaly, Cortical dysplasia ORPHA:319199
Spastic Paraplegia 50, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly OMIM:612936
Intellectual Developmental Disorder, X-Linked 103
Ventriculomegaly, Polymicrogyria OMIM:300982
Developmental And Epileptic Encephalopathy 65
Microcephaly, Ventriculomegaly, Cerebral atrophy, Plagiocephaly OMIM:618008
Vacterl/Vater Association
Large fontanelles, Omphalocele, Anencephaly, Congenital diaphragmatic hernia ORPHA:887
Chromosome 19P13.13 Deletion Syndrome
Frontal bossing, Ventriculomegaly, Optic nerve hypoplasia, Macrocephaly, Microcephaly, Optic atrophy OMIM:613638
Mehmo Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Decreased response to growth h... OMIM:300148
Arnold-Chiari Malformation Type Ii
Hydrocephalus, Dysphagia, Ventriculomegaly, Aqueductal stenosis, Meningocele, Polymicrogyria, Cor... ORPHA:1136
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Stillbirth, Fr... OMIM:304120
Pierpont Syndrome
Ventriculomegaly, Abnormal subcutaneous fat tissue distribution, Primary microcephaly, Abnormal c... ORPHA:487825
Lissencephaly, X-Linked, 2
Pachygyria, Wide anterior fontanel, Ventriculomegaly, Agenesis of corpus callosum, Lissencephaly OMIM:300215
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Plagiocephaly ORPHA:521390
Pontocerebellar Hypoplasia, Type 10
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ventriculomegaly, C... OMIM:615803
Peho Syndrome
Porencephalic cyst, Arthrogryposis multiplex congenita, Biparietal narrowing, Midface retrusion, ... ORPHA:2836
Brain Small Vessel Disease 2
Ventriculomegaly, Polymicrogyria, Porencephalic cyst, Schizencephaly OMIM:614483
Hydrolethalus Syndrome 1
Severe hydrocephalus, Stillbirth, Absent septum pellucidum, Arrhinencephaly, Omphalocele, Anencep... OMIM:236680
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Inguinal hernia, Joint contracture of the hand, Camptodactyly OMIM:211960
4Q21 Microdeletion Syndrome
Frontal bossing, Large fontanelles, Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus c... ORPHA:238750
Trisomy 5P
Macrocephaly, Ventriculomegaly, Dolichocephaly, Frontal bossing ORPHA:1742
Nevus Comedonicus Syndrome
Microcephaly, Spina bifida, Spina bifida occulta ORPHA:64754
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Large fontanelles, Thickened calvaria, Omphalocele, Cerebellar hypoplasi... ORPHA:90652
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Omphalocele, Anencephaly, Neonatal death, Inguinal hernia, Macrocephaly, Hydro... OMIM:269860
Leukoencephalopathy, Cystic, Without Megalencephaly
Ventriculomegaly, Cerebral calcification, Leukoencephalopathy, Microcephaly, Focal white matter l... OMIM:612951
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Pachygyria, Midface retrusion, Ventriculomegaly, Trigonocephaly, Microcep... OMIM:243310
Fibrochondrogenesis 1
Wide anterior fontanel, Stillbirth, Frontal bossing, Camptodactyly, Widely patent coronal suture,... OMIM:228520
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hypoplasia, Retinal dystro... OMIM:616538
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ventriculomegaly, Flexion contracture, Brachycephaly, Agenesis of corpus callosum OMIM:218000
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Hypoplasia of the ... ORPHA:500159
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Dysphagia, Hyperintensity ... ORPHA:500180
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Ventriculomegaly, Inguinal hernia, Macrocephaly, Agenesis of c... OMIM:613735
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Cortical dysplasia ORPHA:457260
Meckel Syndrome, Type 1
Hydrocephalus, Large placenta, Cerebellar hypoplasia, Omphalocele, Anencephaly, Olfactory lobe ag... OMIM:249000
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Mac... ORPHA:2611
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum ORPHA:1188
Kleefstra Syndrome Due To A Point Mutation
Midface retrusion, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral white m... ORPHA:261652
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Ventriculomegaly, Death in infancy, Microcephaly, Agenesis of corpus callosum ORPHA:452
C Syndrome
Microcephaly, Trigonocephaly, Omphalocele OMIM:211750
Fumarase Deficiency
Open operculum, Hypoplasia of the brainstem, Choroid plexus cyst, Frontal bossing, Cerebral atrop... OMIM:606812
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Diffuse white matter abnormalities, Abnormal periventricular white matter morphology, Hypoplasia ... ORPHA:466934
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Craniosynostosis, Abnormal periventricular white matter morphology, Cortical dysplasia, Cerebral ... ORPHA:468631
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Ventriculomegaly, Microcephaly, Death in adolescence, Pigmentary retinopathy OMIM:619059
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Hydrocephalus, Frontal b... ORPHA:1812
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Spastic Paraplegia 75, Autosomal Recessive
Ventriculomegaly, Optic atrophy, Corpus callosum atrophy OMIM:616680
Polymicrogyria, Bilateral Frontoparietal
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Frontal polymicrogyria, Cer... OMIM:606854
Neurodevelopmental Disorder With Involuntary Movements
Dysphagia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Microcephaly OMIM:617493
Focal Dermal Hypoplasia
Camptodactyly of finger, Spina bifida, Abnormal dental enamel morphology, Diastasis recti, Chorio... ORPHA:2092
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
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Midface retrusion, Ventriculomegaly, Flat occiput, Subcortical cerebral... ORPHA:96147
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Midface retrusion, Ventriculomegaly, Cerebral atrophy OMIM:617268
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Ventriculomegaly, Cerebral atrophy, Umbilical hernia, Optic atrophy OMIM:618164
Desmosterolosis
Arthrogryposis multiplex congenita, Aplasia/Hypoplasia of the corpus callosum, Frontal bossing, V... OMIM:602398
Glycine Encephalopathy With Normal Serum Glycine
Arthrogryposis multiplex congenita, Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion ... OMIM:617301
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Ventriculomegaly, Polymicrogyria, Macrocep... ORPHA:60040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Retinal atrophy, H... OMIM:236670
Macrocephaly, Benign Familial
Biparietal narrowing, Frontal bossing, Ventriculomegaly, Macrocephaly, Dolichocephaly OMIM:153470
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Microcephaly, Ventriculomegaly OMIM:619150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Pachygyria, Ventriculomegaly, Abnormal cerebral white matter morphology, Achilles tendon contract... OMIM:606612
Codas Syndrome
Enamel hypoplasia, Broad skull, Hypoplasia of the corpus callosum, Ventriculomegaly, Omphalocele OMIM:600373
Kagami-Ogata Syndrome
Diastasis recti, Frontal bossing, Flexion contracture, Omphalocele, Inguinal hernia OMIM:608149
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hypoplasia, Brachycephaly,... OMIM:609757
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Hydrocephalus ORPHA:2736
Delpire-Mcneill Syndrome
Dysphagia, Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions, Ename... ORPHA:557003
Curry-Jones Syndrome
Craniosynostosis, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hemimegalencephaly, Agenesis ... OMIM:601707
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Frontal bossing, Hypoplasia of the corpus callosum, Ventriculomegaly, Flat occiput, Periventricul... OMIM:618547
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellum... ORPHA:2481
16P13.2 Microdeletion Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contr... ORPHA:500055
Thanatophoric Dysplasia
Frontal bossing, Midface retrusion, Ventriculomegaly, Cloverleaf skull, Macrocephaly, Hydrocephalus ORPHA:2655
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Brachycephaly OMIM:300958
Xfe Progeroid Syndrome
Enamel hypoplasia, Ventriculomegaly, Absence of subcutaneous fat, Microcephaly, Optic atrophy OMIM:610965
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Craniosynostosis, Midface retrusion, Camptodactyly, Omphalocele, Umbilical hernia, Inguinal herni... OMIM:218649
Focal Dermal Hypoplasia
Enamel hypoplasia, Hiatus hernia, Diastasis recti, Chorioretinal coloboma, Hydrocephalus, Omphalo... OMIM:305600
Fryns Syndrome
Stillbirth, Hypoplasia of the optic tract, Arrhinencephaly, Camptodactyly, Aplasia of the left he... OMIM:229850
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618381
Apert Syndrome
Hydrocephalus, Absent septum pellucidum, Large fontanelles, Midface retrusion, Ventriculomegaly, ... ORPHA:87
Cerebrofacioarticular Syndrome
Large fontanelles, Hypoplasia of the corpus callosum, Ventriculomegaly, Camptodactyly, Cerebellar... ORPHA:314679
Thanatophoric Dysplasia Type 2
Frontal bossing, Holoprosencephaly, Ventriculomegaly, Cloverleaf skull, Macrocephaly, Hydrocephalus ORPHA:93274
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Spina bifida, Midface retrusion, Brachycephaly, Microcephaly ORPHA:1327
Warburg Micro Syndrome 3
Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contracture, Secondary microcephaly,... OMIM:614222
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Inguinal hernia, Hyperintensity of cerebral white matter on MRI, Thic... ORPHA:544488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Holoprosencephaly,... OMIM:253800
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Frontal bossing,... ORPHA:1926
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Optic nerve hypopl... ORPHA:228384
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Large placenta, Omphalocele, Umbilical hernia ORPHA:254534
Aicardi Syndrome
Chorioretinal lacunae, Cavum septum pellucidum, Spina bifida, Hiatus hernia, Pachygyria, Choroid ... OMIM:304050
Microcephaly 27, Primary, Autosomal Dominant
Primary microcephaly, Ventriculomegaly, Trigonocephaly, Simplified gyral pattern OMIM:619180
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Prominent metopic ridge, Hypoplasia of the corpus callosum, Ventriculomegaly, Oliv... ORPHA:457284
Caribbean Parkinsonism
T2 hypointense basal ganglia, Cerebral cortical atrophy, Ventriculomegaly, Midline brain calcific... ORPHA:97355
Beare-Stevenson Cutis Gyrata Syndrome
Craniosynostosis, Hydrocephalus, Midface retrusion, Ventriculomegaly, Cloverleaf skull, Optic atr... OMIM:123790
Pyruvate Dehydrogenase Deficiency
Aplasia/Hypoplasia of the corpus callosum, Frontal bossing, Ventriculomegaly, Multiple lipomas, T... ORPHA:765
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Calvarial skull defect, Ventriculomegaly, Cerebellar h... ORPHA:1647
Temtamy Syndrome
Chorioretinal coloboma, Ventriculomegaly, Agenesis of corpus callosum, Frontal bossing OMIM:218340
Otopalatodigital Syndrome, Type I
Delayed closure of the anterior fontanelle, Prominent occiput, Omphalocele, Frontal bossing OMIM:311300
Xq12-Q13.3 Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Bulimia, Microcephaly, Optic disc pallor, Ab... ORPHA:314389
Recombinant Chromosome 8 Syndrome
Midface retrusion, Ventriculomegaly, Cerebral atrophy, Camptodactyly, Brachycephaly, Joint contra... OMIM:179613
Juvenile Huntington Disease
Neuronal loss in basal ganglia, Abnormal cerebral white matter morphology, Ventriculomegaly ORPHA:248111
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum, Decreased calvarial ossific... ORPHA:2772
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Death i... OMIM:614576
Kapur-Toriello Syndrome
Retinal coloboma, Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
Septooptic Dysplasia
Absent septum pellucidum, Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypop... OMIM:182230
3C Syndrome
Chorioretinal coloboma, Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Ventriculomegaly, ... ORPHA:7
Emanuel Syndrome
Hydrocephalus, Dysphagia, Abnormal cerebral white matter morphology, Cerebral atrophy, Ventriculo... ORPHA:96170
Pontocerebellar Hypoplasia, Type 2B
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... OMIM:612389
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Primary microcephaly, Ventriculomegaly ORPHA:2172
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Death in infancy, Omphalocele, Umbilical hernia, Inguinal hernia, Congen... ORPHA:373
Melnick-Needles Syndrome
Craniofacial hyperostosis, Delayed cranial suture closure, Omphalocele, Frontal bossing ORPHA:2484
Exstrophy-Epispadias Complex
Abnormality of the abdominal wall, Spina bifida, Omphalocele, Cystocele, Inguinal hernia, Abdomin... ORPHA:322
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Brachycephaly, Sclerotic cranial sutures, Papilledema, Omphalocele ORPHA:371428
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:617761
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture of finger, Camptodactyly, Large placenta, Flexion contractur... ORPHA:254528
Cornelia De Lange Syndrome 2
Microcephaly, Ventriculomegaly, Brachycephaly OMIM:300590
Chromosome 9P Deletion Syndrome
Midface retrusion, Inguinal hernia, Trigonocephaly, Omphalocele OMIM:158170
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Aplasia/Hypoplasia of the corpus... OMIM:617822
Weiss-Kruszka Syndrome
Colpocephaly, Prominent metopic ridge, Hypoplasia of the corpus callosum, Ventriculomegaly, Agene... OMIM:618619
Carey-Fineman-Ziter Syndrome
Hypoplasia of the brainstem, Dysphagia, Ventriculomegaly, Flexion contracture, Plagiocephaly, Mac... OMIM:254940
Sotos Syndrome 1
Cavum septum pellucidum, Frontal bossing, Ventriculomegaly, Macrocephaly, Dolichocephaly, Partial... OMIM:117550
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Microcephaly, Ventriculomegaly ORPHA:2643
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Abnormality of the calvaria, Holoprosencephaly, Posterior p... ORPHA:563612
Lissencephaly Type Iii And Bone Dysplasia
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Agenesis of cerebellar vermis, M... OMIM:601160
Leukodystrophy, Hypomyelinating, 12
Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contracture, Secondary microcephaly,... OMIM:616683
Developmental And Epileptic Encephalopathy 64
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cerebral cortical atr... OMIM:618004
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Camptodactyly, Cerebral white matter hypoplasia, Retinal coloboma, Hypoplasia of the corpus callo... ORPHA:261552
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Ventriculomegaly, Cerebellar hypoplasia OMIM:613730
Pontocerebellar Hypoplasia, Type 2E
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Secondary microcephaly, Fl... OMIM:615851
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Arthrogryposis multiplex congenita, Craniosynostosis, Global brain atrophy, Midface retrusion, Hy... OMIM:301056
Joubert Syndrome 2
Chorioretinal coloboma, Hypoplasia of the brainstem, Frontal bossing, Enlarged fossa interpeduncu... OMIM:608091
Catel-Manzke Syndrome
Camptodactyly of finger, Ventriculomegaly ORPHA:1388
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ventriculomegaly, P... OMIM:300354
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Midface retrusion, Cerebellar hypoplasia, Omphalocele, Relative macrocepha... OMIM:616300
Desmosterolosis
Pachygyria, Hydrocephalus, Absent septum pellucidum, Frontal bossing, Ventriculomegaly, Polymicro... ORPHA:35107
Joubert Syndrome With Ocular Defect
Biparietal narrowing, Hydrocephalus, Retinal coloboma, Cerebellar vermis hypoplasia, Retinal dyst... ORPHA:220493
Neuronal Intranuclear Inclusion Disease
Ventriculomegaly, Leukoencephalopathy OMIM:603472
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Dolichocephaly, Hydrocephalus OMIM:617866
Fanconi Anemia, Complementation Group W
Abnormal periventricular white matter morphology, Midface retrusion, Ventriculomegaly, Microcepha... OMIM:617784
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Subcutaneous lipoma, Hydrocephalus, Hypoplasia of the corpus callosum, Cerebe... OMIM:613001
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Neonatal death, Cerebellar hypoplasia OMIM:618810
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Microcephaly, Omphalocele ORPHA:3186
Shashi-Pena Syndrome
Macrocephaly, Ventriculomegaly OMIM:617190
Kagami-Ogata Syndrome
Diastasis recti, Frontal bossing, Dysphagia, Large placenta, Omphalocele, Inguinal hernia ORPHA:254519
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Mild microcephaly, Camptodactyly ORPHA:363444
Galloway-Mowat Syndrome 5
Microcephaly, Ventriculomegaly, Pachygyria OMIM:617731
Fg Syndrome Type 1
Progressive flexion contractures, Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Ve... ORPHA:93932
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Camptodactyly, Primary microcephaly, Trigono... OMIM:618804
Apert Syndrome
Agenesis of corpus callosum, Large fontanelles, Absent septum pellucidum, Midface retrusion, Vent... OMIM:101200
Cloacal Exstrophy
Spina bifida, Omphalocele, Bladder exstrophy, Myelomeningocele, Cloacal exstrophy ORPHA:93929
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy ORPHA:85277
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Holoprosencephaly, Ventriculomegaly, Microcephaly, Agenesis of corpus ca... ORPHA:261236
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cortical dysplasia, S... OMIM:615574
Fibrochondrogenesis
Camptodactyly of finger, Omphalocele, Plagiocephaly, Wide anterior fontanel ORPHA:2021
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly OMIM:616540
Snijders Blok-Campeau Syndrome
Midface retrusion, Ventriculomegaly, Frontal bossing, Macrocephaly OMIM:618205
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Corpus callosum atrophy, Dysphagia, Ventriculomegaly, Leukoencephalopathy, Secondary microcephaly OMIM:608809
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Ventriculomegaly, Megalencephaly, Cerebral white matter hypoplasia, Periventricular white matter ... ORPHA:500533
Mitochondrial Complex I Deficiency, Nuclear Type 37
Corpus callosum atrophy, Ventriculomegaly, Cerebral atrophy, Cerebral cortical atrophy, Inguinal ... OMIM:619272
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Pyridoxine-Dependent Epilepsy
Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:3006
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Frontal bossing, Absent septum pellucidum, Ventriculomegaly, Cerebellar vermis hy... ORPHA:397715
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Chromosome 2P16.1-P15 Deletion Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Camptodactyly,... OMIM:612513
Mental Retardation, Autosomal Dominant 35
Macrocephaly, Ventriculomegaly, Hydrocephalus OMIM:616355
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Camptodactyly of finger ORPHA:48431
Kennerknecht Syndrome
Omphalocele OMIM:600908
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wormian bones, Flexion contracture of thumb, Diastasis recti, Wide anterior fontanel, Frontal bos... ORPHA:96334
C Syndrome
Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Death in infancy, Omphalocele, T... ORPHA:1308
Curry-Jones Syndrome
Optic disc coloboma, Ventriculomegaly, Craniosynostosis, Agenesis of corpus callosum ORPHA:1553
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Diastasis recti, Frontal bossing, Ventriculomegaly, Megalencephaly, Abnormal corpus callosum morp... ORPHA:457485
Aicardi Syndrome
Hiatus hernia, Abnormality of retinal pigmentation, Chorioretinal coloboma, Pachygyria, Aplasia/H... ORPHA:50
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Hydrocephalus, Midface retrusion, Ventriculomegaly, Cerebel... OMIM:257300
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Retinal deg... OMIM:272200
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Posterior predominant thick cortex pachygyria, Pachygyria, Thick cerebra... ORPHA:95232
Joubert Syndrome 1
Chorioretinal coloboma, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Enlarged fossa... OMIM:213300
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microcephaly, Agenesis of cerebellar... OMIM:611134
Cornelia De Lange Syndrome 5
Microcephaly, Ventriculomegaly, Brachycephaly OMIM:300882
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Frontal bossing, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... ORPHA:494344
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Frontal bossing, Absent septum pelluc... ORPHA:2273
Methylcobalamin Deficiency Type Cble
Hypoplasia of the brainstem, Ventriculomegaly, Abnormal cerebral white matter morphology, Microce... ORPHA:2169
Bladder Exstrophy
Inguinal hernia, Bladder exstrophy, Omphalocele, Umbilical hernia ORPHA:93930
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Ventriculomegaly, Frontal cortical atrophy ORPHA:206559
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Chorioretinal coloboma, Ventriculomegaly, Biparietal narrowing ORPHA:2031
Intellectual Developmental Disorder, X-Linked 12
Ventriculomegaly, Microcephaly, Abnormal cerebral white matter morphology, Cerebellar vermis hypo... OMIM:300957
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618974
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Ventriculomegaly, Abnormal cerebral white matter morpho... ORPHA:99330
Wieacker-Wolff Syndrome, Female-Restricted
Dysphagia, Ventriculomegaly, Flexion contracture, Achilles tendon contracture, Hip contracture, B... OMIM:301041
Tenorio Syndrome
Cavum septum pellucidum, Ventriculomegaly, Cerebral cortical atrophy, Delayed cranial suture clos... OMIM:616260
Rasmussen Subacute Encephalitis
Global brain atrophy, Ventriculomegaly, Subcortical cerebral atrophy, Abnormality of the basal ga... ORPHA:1929
Neu-Laxova Syndrome
Spina bifida, Arthrogryposis multiplex congenita, Pachygyria, Absent septum pellucidum, Ventricul... ORPHA:2671
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the cerebellum, Porencephalic cyst, Biparietal narrowing, Aplasia/Hypoplasi... ORPHA:2612
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Frontal bossing, Corticospinal tract hypoplasia, Midfa... ORPHA:819
Hydrolethalus
Agenesis of corpus callosum, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Hydrocephalus ORPHA:2189
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly, Optic atrophy OMIM:618228
Fanconi Anemia, Complementation Group B
Optic disc hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Death in infancy, Cer... OMIM:300514
Wars2-Related Combined Oxidative Phosphorylation Defect