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.

Select physiological systems to view:
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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 Skull Lateral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

Adult LacZ

LacZ Images Wholemount

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 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
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callos... OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Ventriculomegaly, Decrease... ORPHA:500166
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus... OMIM:617542
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Microcephaly, Abnormal neuron morphology, Abnormal cerebral morphology, Ve... ORPHA:329228
Band Heterotopia
Hydrocephalus, Macrocephaly, Polymicrogyria, Ventriculomegaly, Subcortical band heterotopia, Agen... OMIM:600348
Acalvaria
Hydrocephalus, Calvarial skull defect, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, O... ORPHA:945
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Macrocephaly, Polymicrogyria, Ventriculomegaly, Megalencephaly OMIM:615938
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... OMIM:608716
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Macrocephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly,... OMIM:615937
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum OMIM:613162
Corpus Callosum, Agenesis Of
Macrocephaly, Joint contracture of the hand, Microcephaly, Camptodactyly, Frontal bossing, Agenes... OMIM:217990
Genitourinary And/Or Brain Malformation Syndrome
Acrania, Dysplastic corpus callosum, Macrocephaly, Holoprosencephaly, Agenesis of corpus callosum... OMIM:618820
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Macrocephaly, Microcephaly, Cortical dysplasia, Ventriculomegaly, Abnormal corpus ... OMIM:618709
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Death in infancy, Omphalocele OMIM:258320
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Ventriculomegaly, Agenesis of corpus... ORPHA:171703
Lissencephaly 3
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Cerebellar vermis hypopl... OMIM:611603
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Macrocephaly, Large basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Primary mic... ORPHA:300570
Craniotelencephalic Dysplasia
Hydrocephalus, Craniosynostosis, Microcephaly, Arrhinencephaly, Agenesis of corpus callosum, Cere... ORPHA:1528
Frontal Encephalocele
Hydrocephalus, Calvarial skull defect, Macrocephaly, Cerebral calcification, Dolichocephaly, Ence... ORPHA:1931
Masa Syndrome
Hydrocephalus, Macrocephaly, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Death in childhood, Microcephaly, Death in adolescence, Cerebellar hypoplasia, Hypoplasia of the ... OMIM:616486
Lissencephaly 1
Cerebellar hypoplasia, Abnormal cerebral white matter morphology, Agyria, Lissencephaly, Ventricu... OMIM:607432
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Ventricul... OMIM:619501
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Frontal bossing, V... ORPHA:3207
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Cortical dysplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Simplified gyral pattern... OMIM:615763
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Omphalocele, Cloverleaf skull, Platybasia, Agenesis of corpus callosum ORPHA:93267
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the pons, Optic atrophy, Ventriculomegaly,... OMIM:617669
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus call... OMIM:300864
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... OMIM:610031
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Microlissencephaly
Cerebral dysmyelination, Cerebral cortical atrophy, Microcephaly, Polymicrogyria, Hypoplasia of t... ORPHA:1083
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Lissencephaly,... OMIM:618730
Microcephaly 19, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617800
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse swelling of cerebral white matter, Macrocephaly, Cerebral atrophy, Dysphagia, Ventriculom... OMIM:613925
Schisis Association
Congenital diaphragmatic hernia, Microcephaly, Anencephaly, Omphalocele, Encephalocele, Spina bifida ORPHA:63862
Masa Syndrome
Camptodactyly of finger, Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Congenital Hydrocephalus
Hydrocephalus, Macrocephaly, Small cerebral cortex, Abnormal cortical gyration, Optic atrophy, Fr... ORPHA:2185
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Thick cerebral ... OMIM:618677
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Macular degeneration, Death in infancy ORPHA:85334
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the pons, Global brain atrophy OMIM:618276
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Death in childhood, Retinal detachment, Hypoplasia of the pons, Cerebellar hypopla... OMIM:613153
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Cerebral atrophy, Ventriculomegaly OMIM:617051
Trigonocephaly 1
Microcephaly, Trigonocephaly, Omphalocele, Craniosynostosis OMIM:190440
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Microcephaly 17, Primary, Autosomal Recessive
Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Simplified gyral pattern, Microlissencepha... OMIM:617090
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Cerebral calcification, Microcephaly, Optic atrophy, Frontal bossing, Ventriculome... OMIM:617281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Flexion contracture, Hypoplasia of the pons, Type II lissencephaly, Optic atrophy,... OMIM:613154
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Cerebral cortical atrophy, Ventriculomegaly, Chorioretinal coloboma ORPHA:2732
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Flexion contracture, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydran... OMIM:225790
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Holoprosencephaly 7
Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Parietal bossing, Holoprosencephaly, Parti... OMIM:610828
Lissencephaly 4
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... OMIM:614019
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Porencephaly
Porencephalic cyst, Ventriculomegaly ORPHA:2940
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Macrocephaly, Joint contracture of the hand, Inguinal hernia, Craniosynostosis, Do... OMIM:175700
Trisomy 1Q
Hydrocephalus, Macrocephaly, Congenital diaphragmatic hernia, Camptodactyly of finger, Cerebellar... ORPHA:261344
Microcephaly, Seizures, And Developmental Delay
Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive microcephaly, Simp... OMIM:613402
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Macrocephaly, Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Spina bifida occulta, Flat occiput,... OMIM:618736
Donnai-Barrow Syndrome
Macrocephaly, Congenital diaphragmatic hernia, Retinal detachment, Retinal dystrophy, Partial age... OMIM:222448
Bowen-Conradi Syndrome
Microcephaly, Ventriculomegaly, Camptodactyly of finger, Death in infancy ORPHA:1270
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callo... ORPHA:255182
Cerebral Palsy, Spastic Quadriplegic, 2
Cerebral atrophy, Ventriculomegaly OMIM:612900
Miller-Dieker Syndrome
Omphalocele, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Lissencephaly ORPHA:531
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Macrocephaly, Cerebral cortical atrophy, Inguinal hernia, Aplasia/Hypoplasia of the cerebellum, V... ORPHA:1568
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Microcephaly, Ventriculomegaly, Arthrogryposis multiplex congenita, Simplifi... OMIM:618397
Amish Lethal Microcephaly
Microcephaly, Optic atrophy, Cerebellar vermis hypoplasia, Lissencephaly, Ventriculomegaly, Death... ORPHA:99742
Donnai-Barrow Syndrome
Macrocephaly, Congenital diaphragmatic hernia, Retinal detachment, Retinal dystrophy, Omphalocele... ORPHA:2143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Retinal dysplasia, Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, Optic n... OMIM:615287
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy, Ventricul... ORPHA:85179
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death in infancy, ... OMIM:619302
Craniotelencephalic Dysplasia
Absent septum pellucidum, Craniosynostosis, Optic nerve hypoplasia, Frontal encephalocele, Arrhin... OMIM:218670
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Absent septum pellucidum, Anterior encephalocele, Holoprosencephaly OMIM:601357
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Retinal degeneration, Microcephaly, Optic at... OMIM:252650
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... OMIM:304100
Bonnemann-Meinecke-Reich Syndrome
Cerebral calcification, Microcephaly, Ventriculomegaly, Dolichocephaly ORPHA:1261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Ventriculomegaly, Retinal dysplasia OMIM:614830
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Plagiocephaly, Unilambdoid synostosis, Hypoplasia of the corpus callosum, Ventricu... OMIM:618577
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Inguinal hernia, Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus ... OMIM:618603
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Macrocephaly, Congenital diaphragmatic hernia, Craniosynostosis, Frontal bossing, ... ORPHA:380
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Plagiocephaly, Flexion contracture, Dolichocephaly, Camptodactyly of finger, Type ... ORPHA:272
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Frontal cortical atrophy, Parietal cortical atrophy, Microcephaly, Death in childhood, Optic atro... OMIM:618766
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Macrocephaly, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker m... OMIM:617967
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Ventriculomegal... OMIM:619701
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Macrocephaly at birth, Type II lissencephaly, Ventriculomegaly, Occipital encephal... ORPHA:324416
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Alobar holoprosencephaly, Dolichocephaly, Ventriculomegaly, Brachycephaly, Agenesi... OMIM:615433
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Brachyturricephaly, Hypoplasia of the corpus callosum, Frontal bossing, Ventriculo... OMIM:218350
Hydrocephalus With Associated Malformations
Hydrocephalus, Omphalocele OMIM:236640
Craniosynostosis 6
Plagiocephaly, Craniosynostosis, Microcephaly, Spina bifida occulta, Turricephaly, Brachycephaly,... OMIM:616602
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Inguinal hernia, Microcephaly, Neonatal death, Abnormal cortical gyration, Polymicrogyria, Aplasi... OMIM:619602
Non-Syndromic Metopic Craniosynostosis
Trigonocephaly, Omphalocele ORPHA:3366
Hemimegalencephaly
Macrocephaly, Cranial asymmetry, Polymicrogyria, Abnormal neuron morphology, Optic atrophy, Ventr... ORPHA:99802
Microhydranencephaly
Multiple joint contractures, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Pachygyria, H... OMIM:605013
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Agyria, Pachygyria, Ventriculomegaly ORPHA:1084
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Omphalocel... OMIM:264480
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Progressive microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus c... OMIM:617862
Triploidy
Hydrocephalus, Macrocephaly, Holoprosencephaly, Omphalocele, Meningocele, Aplasia/Hypoplasia of t... ORPHA:3376
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventri... ORPHA:262767
Meckel Syndrome, Type 2
Anencephaly, Omphalocele, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:603194
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the brainstem, Dysplastic corpus callosum, Impaired oropharyngeal swallow response,... ORPHA:2524
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Microcephaly, Basal ganglia cysts, Frontal bossing, Ventriculomegaly, Agenesis ... OMIM:312170
Iniencephaly
Myelomeningocele, Hydrocephalus, Congenital diaphragmatic hernia, Dandy-Walker malformation, Holo... ORPHA:63259
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Cerebral hypoplasia, Flexion contracture, Microcephaly, Hypoplasia of the corpus callosum, Ventri... OMIM:617977
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Aqueductal stenosis, Craniosynostosis, Microcephaly, Turrice... ORPHA:1496
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Microcephaly, Ventriculomegaly, Pachygyria OMIM:617613
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Hydrocephalus, Macrocephaly, Aqueductal stenosis, Absent septum pel... OMIM:307000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Macrocephaly, Flexion contracture, Cerebellar hypoplasia, Polymicrogyr... OMIM:618291
Lissencephaly 8
Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Type II l... OMIM:617255
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Ventriculomegaly, Death in infancy, Hyperintensity of cerebral white mat... OMIM:611722
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly OMIM:617391
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Plagiocephaly, Macrocephaly, Inguinal hernia, Microcephaly, Hypoplasia of the corpus callosum, Ve... OMIM:618354
Omphalocele
Omphalocele ORPHA:660
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Hypoplasia... ORPHA:300573
Pyruvate Dehydrogenase E1-Beta Deficiency
Abnormal calvaria morphology, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short cor... ORPHA:255138
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Camptodactyly, Ventral hernia, Frontal bossing, Omphalocele, Midface retru... OMIM:618529
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Microcephaly, Ventriculomegaly, Pachygyria, Agenesis of corpus c... ORPHA:2512
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Caudal Duplication
Myelomeningocele, Spina bifida, Omphalocele ORPHA:1756
Intellectual Developmental Disorder, Autosomal Recessive 69
Cerebellar hypoplasia, Microcephaly, Ventriculomegaly OMIM:618383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Remnants of the hyaloid vascular system, Macrocephaly, Pachygyria, Optic nerve hyp... OMIM:614643
Pontocerebellar Hypoplasia, Type 9
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Ventri... OMIM:615809
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Dysphagia, Spina bifida, Agenesis of corpus callosum, Cervical m... OMIM:207950
Carpenter Syndrome 1
Cerebral atrophy, Joint contracture of the hand, Coronal craniosynostosis, Spina bifida occulta, ... OMIM:201000
Distal Trisomy 15Q
Microcephaly, Camptodactyly of finger, Omphalocele ORPHA:1707
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Flexion contracture, Optic nerve hypoplasia, Microcephaly, Polymicrog... OMIM:614833
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Macrocephaly, Cerebral atrophy, Cerebellar hypop... OMIM:616900
Peho-Like Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Optic atrophy, Lissencephaly, Ventriculomegaly... OMIM:617507
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Optic disc hypoplasia, Colpocephaly, Agenesis of corpus... OMIM:619955
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Congenital diaphragmatic hernia, Anencephaly, Sirenomeli... ORPHA:63260
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Agenesis of cerebellar vermis, Frontal bossing, Cerebellar vermis hypoplasia, Dysp... ORPHA:163961
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal calvaria morphology, Cerebral calcification, Dolichocephaly, 4-layered lissencephaly, Hy... ORPHA:89844
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Retinal detachment, Dilated fourth ventricle... ORPHA:370959
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly, Macrocephaly, Agenesis of corpus callosum ORPHA:459074
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Ventriculomegaly, Retinal degeneration, Craniosynostosis OMIM:225755
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Polymicrogyria OMIM:612691
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Macrocephaly, Cerebellar hypoplasia, Optic atrophy, Abnormal cerebral white matter... OMIM:618476
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Increased cup-to-disc ratio, Hypoplasia of the optic tract, Hypoplasia... ORPHA:500144
Mosaic Trisomy 1
Macrocephaly, Congenital diaphragmatic hernia, Camptodactyly of finger, Cerebellar hypoplasia, Po... ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Retinal degeneration, Flexion contracture, Microcephaly, Cerebellar hypoplasia, Ty... OMIM:615249
Macdermot-Winter Syndrome
Microcephaly, Ventriculomegaly, Camptodactyly of finger, Death in infancy OMIM:247990
Trisomy 18
Abnormality of retinal pigmentation, Congenital diaphragmatic hernia, Holoprosencephaly, Dolichoc... ORPHA:3380
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration OMIM:311000
Walker-Warburg Syndrome
Hydrocephalus, Macrocephaly, Macrogyria, Microcephaly, Retinal detachment, Retinal dysplasia, Age... ORPHA:899
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Flexion contracture, Microcephaly, Cerebellar vermis hypoplasia, Dysp... OMIM:620001
Narp Syndrome
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Abnormal basa... ORPHA:644
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Joint contracture of the hand, Camptodactyly OMIM:601016
Omphalocele, X-Linked
Omphalocele OMIM:310980
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Microcephaly, Omphalocele, Brachycephaly OMIM:263210
Pettigrew Syndrome
Hydrocephalus, Flexion contracture, Cerebral calcification, Ventriculomegaly, Dandy-Walker malfor... OMIM:304340
Hypothyroidism, Congenital, Nongoitrous, 6
Relative macrocephaly, Omphalocele OMIM:614450
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Cerebral cortical atrophy, Microcephaly, Pigmentary retinopathy, Hyp... ORPHA:370968
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Cerebral atrophy, Cerebral calcification, Death in childhood, Ventriculomegaly, Pr... OMIM:610333
Familial Scaphocephaly Syndrome, Mcgillivray Type
Macrocephaly, Dolichocephaly, Midface retrusion, Ventriculomegaly, Trigonocephaly ORPHA:168624
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Microcephaly, Camptodactyly of finger, Hypoplasia of the corpus callosum, Optic atrophy, Ventricu... ORPHA:1495
Acromelic Frontonasal Dysostosis
Lipoma, Choroid plexus cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Encephalocele, ... OMIM:603671
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Microcephaly, Ventriculomegaly ORPHA:1980
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Unilateral wrist flexion contracture, Dolichocephaly, Cerebellar hypo... OMIM:616531
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Neonatal death, Cerebellar hypoplasia, Agyria, Lissencephaly, Death in infancy, Art... OMIM:616342
Halperin-Birk Syndrome
Pseudobulbar paralysis, Congenital diaphragmatic hernia, Flexion contracture, Inguinal hernia, De... OMIM:618651
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Inguinal hernia, Dilated fourth ventricle, Thick cerebral cortex, Fro... ORPHA:357058
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Macrocephaly, Ventriculomegaly, Brachycephaly, Agenesis of corpus callosum OMIM:109120
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Macrocephaly, Microcephaly, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Optic atro... OMIM:616975
Baraitser-Winter Syndrome 2
Lissencephaly, Ventriculomegaly, Pachygyria, Secondary microcephaly, Trigonocephaly, Agenesis of ... OMIM:614583
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Hernia, Ventriculomegaly, Megalencephaly,... OMIM:602501
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Cerebral calcification, Aqueductal stenosis, Omphalocele ORPHA:3035
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Craniosynostosis, Aplasia/Hypoplasia of the cer... ORPHA:2745
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Plagiocephaly, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, ... OMIM:616362
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Neuronal loss in the ... ORPHA:168486
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... ORPHA:2182
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Optic disc pallor, Retrobulbar optic neuritis, Secondary microcephaly... OMIM:619737
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Macrocephaly, Communicating hydrocephalus, Optic atrophy, Frontal bossing, Lissencephaly, Ventric... OMIM:615219
Hsd10 Disease
Focal white matter lesions, Microcephaly, Optic atrophy, Ventriculomegaly, Dysphagia, Frontotempo... ORPHA:391417
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Omphalocele OMIM:275100
1Q44 Microdeletion Syndrome
Hydrocephalus, Microcephaly, Frontal bossing, Ventriculomegaly, Optic disc hypoplasia, Biparietal... ORPHA:238769
Holoprosencephaly, Recurrent Infections, And Monocytosis
Microcephaly, Brachycephaly, Agenesis of corpus callosum, Holoprosencephaly OMIM:610680
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly OMIM:614226
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
6Q25 Microdeletion Syndrome
Plagiocephaly, Microcephaly, Camptodactyly of finger, Ventriculomegaly, Agenesis of corpus callosum ORPHA:251056
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Cerebral cortical atrophy, Dysplastic corpus call... ORPHA:488627
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Cerebral cortical atrophy, Congenital diaphragmatic hernia, Omphalocele ORPHA:1834
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Macrocephaly, Brachycephaly, Frontal cortical atrophy, Ventriculomegaly OMIM:300699
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Camptodactyly of finger, Flexion contracture of toe, Ventriculomegaly OMIM:619323
Congenital Toxoplasmosis
Hydrocephalus, Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly, Ventric... ORPHA:858
17P13.3 Microduplication Syndrome
Frontal bossing, Inguinal hernia, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:217385
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:614924
Holoprosencephaly
Hydrocephalus, Macrocephaly, Congenital diaphragmatic hernia, Holoprosencephaly, Retinopathy, Mic... ORPHA:2162
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Flexion contracture, Death in childhood, Microcephaly, Camptodactyly OMIM:604273
3-Hydroxyisobutyric Aciduria
Cerebral cortical atrophy, Cerebral calcification, Microcephaly, Aplasia/Hypoplasia of the cerebe... ORPHA:939
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Dolichocephaly, Prominent occiput, Omphalocele, Midface retrusion OMIM:617895
Lissencephaly 6 With Microcephaly
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c... OMIM:616212
Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Focal white matter lesions, Cerebral calcification, Microcephaly, Ventriculo... OMIM:612951
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Marshall-Smith Syndrome
Hydrocephalus, Cerebral atrophy, Absent septum pellucidum, Craniosynostosis, Dolichocephaly, Deat... OMIM:602535
Gabriele-De Vries Syndrome
Abnormal cerebral white matter morphology, Ventriculomegaly OMIM:617557
Pentalogy Of Cantrell
Hydrocephalus, Congenital diaphragmatic hernia, Anencephaly, Omphalocele, Encephalocele ORPHA:1335
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Death in infancy, Cerebral atrophy, Ventriculomegaly OMIM:616034
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Cerebellar ver... ORPHA:101070
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Retinal neovascularization, Partial agenesis of the corpus callosum, Cer... OMIM:619074
Even-Plus Syndrome
Brachycephaly, Dysplastic corpus callosum, Midface retrusion, Agenesis of corpus callosum OMIM:616854
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia OMIM:617493
Thoracoabdominal Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Anencephaly, Ventral hernia, Omphalocele OMIM:313850
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma OMIM:619111
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Si... OMIM:619179
Spastic Paraplegia 47, Autosomal Recessive
Flexion contracture, Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventricular wh... OMIM:614066
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Relative macrocephaly, Inguinal hernia, Camptodactyly, Sagittal craniosynostosis, ... ORPHA:459061
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Macrocephaly, Inguinal hernia, Microcephaly, Midface retrusion, Hypopl... ORPHA:485350
Developmental And Epileptic Encephalopathy 70
Microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Flexion contracture OMIM:618298
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Umbilical hernia, Omphaloc... ORPHA:2166
Miller-Dieker Lissencephaly Syndrome
Abnormality of the abdominal wall, Joint contracture of the hand, Inguinal hernia, Cavum septum p... OMIM:247200
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Macrocephaly, Joint contracture of the hand, Spina bifida occulta, Camptodactyly, ... OMIM:300373
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Abnormality of retinal pigmentation, Ventriculomegaly ORPHA:2515
Leukodystrophy, Hypomyelinating, 24
Cerebral atrophy, Flexion contracture, Microcephaly, Ventriculomegaly, Thin corpus callosum OMIM:619851
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Gastroschisis ORPHA:2476
Al-Gazali-Bakalinova Syndrome
Frontal bossing, Macrocephaly, Agenesis of corpus callosum, Inguinal hernia OMIM:607131
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the ... OMIM:164180
Fryns Syndrome
Cerebral cortical atrophy, Congenital diaphragmatic hernia, Ventriculomegaly, Omphalocele, Agenes... ORPHA:2059
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Abnormal cerebral white matter morphology, Ventriculomegaly, Pachygyria, Achilles t... ORPHA:370980
Pagod Syndrome
Congenital diaphragmatic hernia, Microcephaly, Optic atrophy, Death in infancy, Omphalocele, Meni... ORPHA:991
Epilepsy, Early-Onset, Vitamin B6-Dependent
Secondary microcephaly, Ventriculomegaly OMIM:617290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Optic atrophy, Ventriculomegaly OMIM:613151
Malan Overgrowth Syndrome
Plagiocephaly, Macrocephaly, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Fro... ORPHA:420179
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Cerebral atrophy, Flexion contracture, Basal ganglia cysts, Microcephaly,... ORPHA:79243
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Flexion contracture, Basal ganglia calcification, Microcephaly, De... OMIM:214150
Hydrolethalus Syndrome 1
Anencephaly, Severe hydrocephalus, Arrhinencephaly, Abnormal cortical gyration, Agenesis of corpu... OMIM:236680
Glutaryl-Coa Dehydrogenase Deficiency
Abnormal basal ganglia morphology, Subependymal nodules, Pallidal degeneration, Open operculum, R... ORPHA:25
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Frontal cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis,... ORPHA:137831
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Macrocephaly, Inguinal hernia, Holoprosencephaly, Anencephaly, Neonatal death, Omp... OMIM:269860
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Hypoplasia of the corpus callosum, Death in infancy, Ventriculomegaly, Secondar... OMIM:617248
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Plagiocephaly, Microcephaly, Periventricular leukomalacia, Retinal detachment, Opt... OMIM:619833
3Mc Syndrome 1
Abnormality of the abdominal wall, Coronal craniosynostosis, Microcephaly, Spina bifida occulta, ... OMIM:257920
Christianson Syndrome
Cerebral cortical atrophy, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Death in early adu... ORPHA:85278
Holoprosencephaly 14
Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Mi... OMIM:619895
Developmental And Epileptic Encephalopathy 89
Macrocephaly, Cerebral atrophy, Flexion contracture, Death in childhood, Neonatal death, Hypoplas... OMIM:619124
Combined Oxidative Phosphorylation Deficiency 53
Death in childhood, Dysplastic corpus callosum, Secondary microcephaly, Death in infancy OMIM:619423
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Relative macrocephaly, Cerebellar hypoplasia, Omphalocele, Unicoronal synostosis, Encephalocele, ... OMIM:616300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Retinal detachment, Retinal dysplasia, Cereb... OMIM:236670
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Joint contracture of the hand, Inguinal hernia, Camptodactyly OMIM:211960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Cerebellar hypo... OMIM:613150
Skraban-Deardorff Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617616
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Cortical dysplasia, Polymicrogyria, Partial... ORPHA:1136
Meckel Syndrome, Type 1
Cerebral hypoplasia, Hydrocephalus, Microcephaly, Camptodactyly of finger, Anencephaly, Dilated f... OMIM:249000
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Congenital diaphragmatic hernia, Omphalocele ORPHA:887
Myopathy, Congenital, Bailey-Bloch
Flexion contracture, Microcephaly, Ventriculomegaly, Brachycephaly, Midface retrusion OMIM:255995
Nasu-Hakola Disease
Hydrocephalus, Cerebral cortical atrophy, Abnormal adipose tissue morphology, Cerebral calcificat... ORPHA:2770
Alg3-Cdg
Microcephaly, Hypoplasia of the pons, Neural tube defect, Hypoplasia of the corpus callosum, Cere... ORPHA:79321
Trisomy 5P
Dolichocephaly, Frontal bossing, Macrocephaly, Ventriculomegaly ORPHA:1742
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Acromelic Frontonasal Dysplasia
Hypoplasia of the olfactory bulb, Choroid plexus cyst, Midline central nervous system lipomas, Ve... ORPHA:1827
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Camptodactyly of finger, Cerebellar hypoplasia, Thickened calvar... ORPHA:90652
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Microcephaly, Diffuse cerebral atrophy, Death in infancy, Ventriculomegaly OMIM:614946
Baraitser-Winter Syndrome 1
Trigonocephaly, Microcephaly, Lissencephaly, Ventriculomegaly, Pachygyria, Midface retrusion, Age... OMIM:243310
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Pachygyria, Abnormal cortical gyration, Polymicrogyria, Flat occiput, Lissencephal... ORPHA:2211
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive ... OMIM:615760
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Agenesis of corpus callosum, Cerebral atrophy, Death in infancy OMIM:600329
Focal Dermal Hypoplasia
Diastasis recti, Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Inguinal he... ORPHA:2092
Pontocerebellar Hypoplasia, Type 2B
Cerebral atrophy, Microcephaly, Death in childhood, Cerebellar hypoplasia, Hypoplasia of the corp... OMIM:612389
Mitochondrial Complex I Deficiency, Nuclear Type 33
Cerebellar hypoplasia, Optic atrophy, Abnormal cerebral white matter morphology, Ventriculomegaly... OMIM:618253
Spastic Paraplegia 50, Autosomal Recessive
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:612936
X-Linked Lissencephaly With Abnormal Genitalia
Microcephaly, Death in infancy, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum ORPHA:452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebral cortical atrophy, Flexion contracture, Microcephaly, Pigmentary retinopathy, Hypoplasia ... OMIM:613156
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly, Agenesis of corpus callosum, Flexion contracture, Ventriculomegaly OMIM:218000
Pierpont Syndrome
Abnormal cortical gyration, Primary microcephaly, Ventriculomegaly, Brachycephaly, Abnormal subcu... ORPHA:487825
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Microcephaly, Cerebral atrophy, Ventriculomegaly OMIM:617804
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Brain Malformations With Or Without Urinary Tract Defects
Macrocephaly, Inguinal hernia, Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of c... OMIM:613735
Desmosterolosis
Hydrocephalus, Macrocephaly, Relative macrocephaly, Joint contracture of the hand, Microcephaly, ... OMIM:602398
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Macrocephaly, Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of t... ORPHA:500159
Pontocerebellar Hypoplasia, Type 10
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebral whi... OMIM:615803
Developmental And Epileptic Encephalopathy 65
Microcephaly, Plagiocephaly, Cerebral atrophy, Ventriculomegaly OMIM:618008
Chromosome 19P13.13 Deletion Syndrome
Macrocephaly, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Frontal bossing, Ventriculomegaly OMIM:613638
Nevus Comedonicus Syndrome
Microcephaly, Spina bifida, Spina bifida occulta ORPHA:64754
Temtamy Syndrome
Frontal bossing, Chorioretinal coloboma, Agenesis of corpus callosum, Ventriculomegaly OMIM:218340
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Macrocephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ven... OMIM:609757
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Relative macrocephaly, Cerebral atrophy, Choroid plexus cyst... OMIM:606812
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Craniosynostosis, Attenuation of retinal blood vessels, Polymicrogyr... ORPHA:468631
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Midface retrusion, Frontal bossing, Omphalocele, Stillbirth OMIM:304120
Thanatophoric Dysplasia Type 2
Hydrocephalus, Macrocephaly, Holoprosencephaly, Frontal bossing, Ventriculomegaly, Encephalocele,... ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Flexion contracture, Holoprosencephaly, Pachygyria, Retinal detachment, Retinal dy... OMIM:253800
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Inguinal hernia, Microcephaly, Agenesis... ORPHA:96147
Peho Syndrome
Hydrocephalus, Cerebral cortical atrophy, Flexion contracture, Biparietal narrowing, Microcephaly... ORPHA:2836
Developmental And Epileptic Encephalopathy 99
Thick corpus callosum, Perisylvian polymicrogyria, Microcephaly, Ventriculomegaly, Thin corpus ca... OMIM:619606
Fryns Syndrome
Joint contracture of the hand, Hypoplasia of the optic tract, Arrhinencephaly, Aplasia of the lef... OMIM:229850
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Macrocephaly, Inguinal hernia, Aplasia/Hypoplasia of the cerebellum, Frontal bossi... ORPHA:1812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Macrocephaly, Cerebral calcification, Polymicrogyria, Hypoplasia of the corpus cal... OMIM:616538
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Flexion contracture, Frontal bossing, Omphalocele OMIM:608149
Autosomal Recessive Spastic Paraplegia Type 53
Microcephaly, Cortical dysplasia, Ventriculomegaly ORPHA:319199
Pontocerebellar Hypoplasia, Type 16
Cerebral cortical atrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Optic atrophy, Dysphagi... OMIM:619527
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:521390
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal cerebral white matter morphology, Abnormal periventricular white matter morphology, Vent... OMIM:613443
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Multiple joint contractures, Trigonocephaly, Joint contracture of the hand, Inguinal hernia, Cran... OMIM:218649
Mehmo Syndrome
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:300148
Congenital Disorder Of Deglycosylation 2
Macrocephaly, Retinal coloboma, Polymicrogyria, Partial agenesis of the corpus callosum, Cerebell... OMIM:619775
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Microcephaly, Ventriculomegaly OMIM:619150
Kohlschutter-Tonz Syndrome
Cerebral atrophy, Cerebellar hypoplasia, Enamel hypoplasia, Ventriculomegaly, Amelogenesis imperf... OMIM:226750
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Rod-cone dystrophy, Agenesis of corpus callosum, Omphalocele OMIM:618419
Macrocephaly, Benign Familial
Macrocephaly, Dolichocephaly, Frontal bossing, Ventriculomegaly, Biparietal narrowing OMIM:153470
C Syndrome
Microcephaly, Trigonocephaly, Omphalocele OMIM:211750
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Inguinal hernia, Microcephaly, Frontal bossing, Midface retrusion, Agenesis of cor... OMIM:612940
4Q21 Microdeletion Syndrome
Cerebellar hypoplasia, Frontal bossing, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238750
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Microcephaly, Ventriculomegaly, Dysphagia, Global brain atrophy OMIM:308350
Brain Small Vessel Disease 2
Porencephalic cyst, Ventriculomegaly, Polymicrogyria, Schizencephaly OMIM:614483
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Optic atrophy,... ORPHA:60040
Focal Dermal Hypoplasia
Myelomeningocele, Diastasis recti, Hydrocephalus, Hiatus hernia, Congenital diaphragmatic hernia,... OMIM:305600
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Dysplastic corpus callosum, Macrocephaly, Inguinal hernia, Dilated third v... ORPHA:544488
Curry-Jones Syndrome
Craniosynostosis, Polymicrogyria, Ventriculomegaly, Megalencephaly, Hemimegalencephaly, Agenesis ... OMIM:601707
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Omphalocele ORPHA:2736
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Dysphagia, Ventriculomegaly, H... ORPHA:500180
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Microcephaly, Death in adolescence, Ventriculomegaly OMIM:619059
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Omphalocele, Umbilical hernia, Large placenta ORPHA:254534
Lissencephaly, X-Linked, 2
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:300215
Joubert Syndrome With Ocular Defect
Hydrocephalus, Retinal coloboma, Polymicrogyria, Retinal dystrophy, Cerebellar vermis hypoplasia,... ORPHA:220493
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Plagiocephaly, Cerebral cortical atrophy, Macrocephaly, Flexion contracture, Microcephaly, Fronta... OMIM:619720
Camptodactyly Syndrome, Guadalajara Type 1
Microcephaly, Camptodactyly of finger, Brachycephaly, Midface retrusion, Spina bifida ORPHA:1327
Microcephaly 27, Primary, Autosomal Dominant
Simplified gyral pattern, Trigonocephaly, Primary microcephaly, Ventriculomegaly OMIM:619180
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Inguinal hernia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus cal... ORPHA:261652
Curry-Jones Syndrome
Craniosynostosis, Agenesis of corpus callosum, Optic disc coloboma, Ventriculomegaly ORPHA:1553
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Craniosynostosis, Optic atrophy, Ventriculomegaly, Cloverleaf skull, Midface retru... OMIM:123790
Fibrochondrogenesis 1
Joint contracture of the hand, Camptodactyly, Frontal bossing, Omphalocele, Stillbirth OMIM:228520
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Corpus callosum atrophy, Ventriculomegaly OMIM:616680
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellum, Death in infancy, Vent... ORPHA:2481
Aicardi Syndrome
Lipoma, Hiatus hernia, Cavum septum pellucidum, Choroid plexus cyst, Microcephaly, Dilated third ... OMIM:304050
Kapur-Toriello Syndrome
Retinal coloboma, Pachygyria, Dysplastic corpus callosum, Polymicrogyria ORPHA:2328
Simpson-Golabi-Behmel Syndrome
Macrocephaly, Congenital diaphragmatic hernia, Inguinal hernia, Aplasia/Hypoplasia of the abdomin... ORPHA:373
16P13.2 Microdeletion Syndrome
Hydrocephalus, Plagiocephaly, Relative macrocephaly, Flexion contracture, Microcephaly, Dilated t... ORPHA:500055
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Midface retrusion, Cerebral atrophy, Ventriculomegaly OMIM:617268
Thanatophoric Dysplasia
Hydrocephalus, Macrocephaly, Frontal bossing, Ventriculomegaly, Cloverleaf skull, Midface retrusion ORPHA:2655
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Cerebral atrophy, Microcephaly, Abnormal cortical gyration, Hypoplasia of the corp... OMIM:614576
Chromosome 9P Deletion Syndrome
Trigonocephaly, Inguinal hernia, Midface retrusion, Omphalocele OMIM:158170
Codas Syndrome
Hypoplasia of the corpus callosum, Enamel hypoplasia, Broad skull, Ventriculomegaly, Omphalocele OMIM:600373
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture of finger, Flexion contracture, Inguinal hernia, Wrist flexi... ORPHA:254528
Oculocerebrodental Syndrome
Enamel hypoplasia, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Macrocephaly, Retinopathy, Ventriculomegaly, Dandy-Walker malfor... ORPHA:2611
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Microcephaly, Cortical dysplasia, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:457260
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Cerebral atrophy, Umbilical hernia, Ventriculomegaly OMIM:618164
Otopalatodigital Syndrome, Type I
Frontal bossing, Prominent occiput, Omphalocele OMIM:311300
Apert Syndrome
Hydrocephalus, Absent septum pellucidum, Brachyturricephaly, Optic atrophy, Acrobrachycephaly, Fr... ORPHA:87
Polymicrogyria, Bilateral Frontoparietal
Perisylvian polymicrogyria, Cerebral dysmyelination, Hypoplasia of the pons, Cerebellar hypoplasi... OMIM:606854
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Leukoencephalopathy, Death in childhood, Myelopathy, Cerebral white matter atrophy, Ventriculomeg... OMIM:617186
Emanuel Syndrome
Multiple joint contractures, Hydrocephalus, Cerebral atrophy, Congenital diaphragmatic hernia, In... ORPHA:96170
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Frontal bossing, Sagittal craniosynostosis, Omphalocele OMIM:145420
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Cerebellar hypoplasia, Dysplastic corpus callosum, Neonatal death OMIM:618810
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Secondary microcephaly, Ventriculomegaly OMIM:618241
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Rod-cone dystrophy, Hypoplasia of the corpus callosum, Optic atrophy, Frontal bossing, Flat occip... OMIM:618547
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Multiple joint contractures, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Abno... ORPHA:466934
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum ORPHA:1188
Intellectual Developmental Disorder, Autosomal Recessive 41
Macrocephaly, Dolichocephaly, Frontal bossing, Ventriculomegaly, Scaphocephaly OMIM:615637
Desmosterolosis
Hydrocephalus, Macrocephaly, Macrogyria, Microcephaly, Agenesis of corpus callosum, Abnormal cort... ORPHA:35107
Exstrophy-Epispadias Complex
Abnormality of the abdominal wall, Hydrocephalus, Cloacal exstrophy, Cystocele, Abdominal wall de... ORPHA:322
Melnick-Needles Syndrome
Frontal bossing, Craniofacial hyperostosis, Omphalocele ORPHA:2484
Oculocerebrocutaneous Syndrome
Hydrocephalus, Calvarial skull defect, Congenital diaphragmatic hernia, Cerebellar hypoplasia, Po... ORPHA:1647
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Flexion contracture, Dolichocephaly, Microcephaly, Hypoplasia of the corpus call... OMIM:617301
Warburg Micro Syndrome 3
Brachycephaly, Cerebral cortical atrophy, Flexion contracture, Microcephaly, Polymicrogyria, Hypo... OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Microcephaly, Abnormal cerebral white matter morphology, Ventriculomegaly, Pachygyria, Achilles t... OMIM:606612
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Microcephaly, Brachycephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:300958
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Lipoma, Cortical dysplasia, Multiple central nervous system lipomas, Hypoplasia of... OMIM:613001
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618381
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Brachycephaly, Omphalocele ORPHA:371428
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Plagiocephaly, Inguinal hernia, Optic nerve hypoplasia, Hypoplasia of the corpus c... ORPHA:457284
3C Syndrome
Hydrocephalus, Macrocephaly, Inguinal hernia, Aplasia/Hypoplasia of the cerebellum, Prominent occ... ORPHA:7
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Catel-Manzke Syndrome
Camptodactyly of finger, Ventriculomegaly ORPHA:1388
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Frontal bossing, Omphalocele, Dysphagia, Large placenta ORPHA:254519
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Cereb... ORPHA:314679
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Optic atrophy, Primary mi... ORPHA:261552
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly OMIM:601389
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum, Decreased calvarial ossific... ORPHA:2772
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Plagiocephaly, Macrocephaly, Cerebellar hypoplasia, C... OMIM:617822
Recombinant Chromosome 8 Syndrome
Brachycephaly, Joint contracture of the hand, Cerebral atrophy, Camptodactyly, Ventriculomegaly, ... OMIM:179613
Hydrolethalus
Hydrocephalus, Absent septum pellucidum, Anencephaly, Arrhinencephaly, Agenesis of corpus callosum ORPHA:2189
Joubert Syndrome 9
Encephalocele, Ventriculomegaly, Retinal dystrophy OMIM:612285
Cloacal Exstrophy
Myelomeningocele, Cloacal exstrophy, Bladder exstrophy, Omphalocele, Spina bifida ORPHA:93929
Pyruvate Dehydrogenase Deficiency
Microcephaly, Multiple lipomas, Frontal bossing, Ventriculomegaly, Trigonocephaly, Aplasia/Hypopl... ORPHA:765
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Mild microcephaly, Ventriculomegaly, Camptodactyly ORPHA:363444
Xq12-Q13.3 Duplication Syndrome
Abnormal basal ganglia MRI signal intensity, Microcephaly, Bulimia, Hypoplasia of the corpus call... ORPHA:314389
Kennerknecht syndrome
Omphalocele OMIM:600908
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal basal ganglia morphology, Subretinal deposits, Colpocephaly, Open operculum, Dilated thi... ORPHA:397715
Cornelia De Lange Syndrome 2
Microcephaly, Brachycephaly, Ventriculomegaly OMIM:300590
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Holoprosencephaly, Dolichocephaly, Microcephaly, Cerebellar hypo... OMIM:612530
Snijders Blok-Campeau Syndrome
Frontal bossing, Macrocephaly, Midface retrusion, Ventriculomegaly OMIM:618205
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of ... ORPHA:228384
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly OMIM:616540
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Macrocephaly, Craniosynostosis, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypo... OMIM:301056
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Microcephaly, Dysplastic corpus callosum, Focal polymicr... OMIM:619103
Septooptic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Optic disc hypoplasia OMIM:182230
Shashi-Pena Syndrome
Macrocephaly, Ventriculomegaly OMIM:617190
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Primary microcephaly, Ventriculomegaly ORPHA:2172
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Microcephaly, Camptodactyly of finger, Ventriculomegaly, Agenesis of corpus ca... ORPHA:261236
Caribbean Parkinsonism
T2 hypointense basal ganglia, Midline brain calcifications, Ventriculomegaly, Cerebral cortical a... ORPHA:97355
Juvenile Huntington Disease
Abnormal cerebral white matter morphology, Ventriculomegaly, Neuronal loss in basal ganglia ORPHA:248111
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microcephaly, Omphalocele, Holoprosencephaly ORPHA:3186
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Diastasis recti, Flexion contracture of thumb, Plagiocephaly, Miscarriage, Flexion contracture, P... ORPHA:96334
Tatton-Brown-Rahman Syndrome
Macrocephaly, Optic nerve hypoplasia, Sagittal craniosynostosis, Ventriculomegaly, Umbilical hern... OMIM:615879
Pontocerebellar Hypoplasia, Type 2E
Cerebral atrophy, Flexion contracture, Microcephaly, Hypoplasia of the corpus callosum, Optic atr... OMIM:615851
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Cerebral atrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the... OMIM:614969
Aicardi Syndrome
Plagiocephaly, Abnormality of retinal pigmentation, Hiatus hernia, Microcephaly, Retinal detachme... ORPHA:50
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Microcephaly, Ventriculomegaly ORPHA:2643
Bladder Exstrophy
Omphalocele, Inguinal hernia, Umbilical hernia, Bladder exstrophy ORPHA:93930
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Death in childhood, Death in infancy, Omphalocele OMIM:243150
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618619
Developmental And Epileptic Encephalopathy 64
Cerebral cortical atrophy, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum... OMIM:618004
Fibrochondrogenesis
Camptodactyly of finger, Plagiocephaly, Omphalocele ORPHA:2021
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Inguinal hernia, Microcephaly, Camptoda... ORPHA:2273
Stromme Syndrome
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retinal vascular tort... OMIM:243605
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Relative macrocephaly, Cortical dysplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Abn... OMIM:300354
Constricting Bands, Congenital
Encephalocele, Gastroschisis, Bladder exstrophy, Omphalocele OMIM:217100
Leukodystrophy, Hypomyelinating, 12
Flexion contracture, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Ventriculome... OMIM:616683
Mosaic Variegated Aneuploidy Syndrome 1
Cerebral hypoplasia, Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hypody... OMIM:257300
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Thin calvarium, Aplasia of the left hemidiaphragm, Spina bifida ... ORPHA:2437
Joubert Syndrome 31
Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617761
Alg9-Cdg
Cerebral atrophy, Lipodystrophy, Frontal bossing, Omphalocele, Progressive microcephaly, Brachyce... ORPHA:79328
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Ventriculomegaly, Optic... ORPHA:137902
Fg Syndrome Type 1
Hydrocephalus, Plagiocephaly, Macrocephaly, Inguinal hernia, Craniosynostosis, Optic nerve hypopl... ORPHA:93932
Rahman Syndrome
Thin corpus callosum, Macrocephaly, Ventriculomegaly, Camptodactyly OMIM:617537
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Ventriculomegaly, Retinal degeneration OMIM:615630
Mitochondrial Complex I Deficiency, Nuclear Type 31
Death in childhood, Ventriculomegaly OMIM:618251
Multiple Sulfatase Deficiency
Hydrocephalus, Cerebral atrophy, Retinal degeneration, Abnormal periventricular white matter morp... OMIM:272200
Dpm1-Cdg
Cerebral atrophy, Hypoplasia of the frontal lobes, Retinopathy, Camptodactyly, Optic atrophy, Fla... ORPHA:79322
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cerebellar hypoplasia, Secondary microcephaly, Ventriculomegaly OMIM:613730
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Cerebral atrophy, Inguinal hernia, Microcephaly, Corpus callosum atrop... OMIM:619272
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Macrocephaly, Ventriculomegaly, Megalencephaly, Cerebral white matter hypoplasia, Periventricular... ORPHA:500533
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Cerebellar hypoplasia, Microcephaly, Ventriculomegaly OMIM:619556
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Ventriculomegaly OMIM:618228
Smith-Magenis Syndrome
Microcephaly, Retinal detachment, Frontal bossing, Corticospinal tract hypoplasia, Ventriculomega... ORPHA:819
Neu-Laxova Syndrome
Flexion contracture, Cerebral calcification, Macrogyria, Microcephaly, Cerebellar hypoplasia, Abn... ORPHA:2671
C Syndrome
Trigonocephaly, Congenital diaphragmatic hernia, Microcephaly, Aplasia/Hypoplasia of the abdomina... ORPHA:1308
Cerebrooculonasal Syndrome
Hydrocephalus, Macrocephaly, Craniosynostosis, Optic nerve hypoplasia, Hypoplasia of the corpus c... OMIM:605627
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Cerebral atrophy, Rod-cone dystrophy, Dilated fourth ventricle, Lateral vent... ORPHA:572798
Duplication Of The Pituitary Gland
Congenital stationary night blindness, Microcephaly, Brachyturricephaly, Hypoplasia of olfactory ... ORPHA:314621
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:85277
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele OMIM:601927
Isolated Exencephaly
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the frontal bone, Abnormal... ORPHA:563612
Cornelia De Lange Syndrome 5
Microcephaly, Brachycephaly, Ventriculomegaly OMIM:300882
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Chorioretinal coloboma, Biparietal narrowing, Ventriculomegaly, Meningocele ORPHA:2031
Chromosome 13Q14 Deletion Syndrome