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Gene: Marcks MGI:96907

Gene Summary

Name:

myristoylated alanine rich protein kinase C substrate

Synonyms:

Macs

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

No results meet the p-value threshold

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	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric lymph node
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vas deferens	Unavailable
vascular system	0.0%
white adipose tissue	0.0%

XRay Images Whole Body Lateral Orientation

8 Images

View 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.

Human diseases associated with Marcks (0 diseases)
Human diseases predicted to be associated with Marcks (723 diseases)

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	Matching phenotypes	Source
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Decreased head circumferen...	ORPHA:500166
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus...	OMIM:617542
Microcephaly 5, Primary, Autosomal Recessive	Flat occiput, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, ...	OMIM:608716
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Microcephaly, Abnormal neuron morphology, Simplified gyral pattern, Small cerebral cortex, Abnorm...	ORPHA:329228
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder, Macroc...	OMIM:618709
Acalvaria	Omphalocele, Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum...	ORPHA:945
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Macrocephaly, Polymicrogyria, Ventriculomegaly	OMIM:615938
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Absent septum pellucidum, Acrania, Dysplastic corpus callosum, Colpocephaly, Seconda...	OMIM:618820
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Macrocephaly, Polymicrogyri...	OMIM:615937
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Retinal dysplasia, Type II lissencephaly	OMIM:615041
Corpus Callosum, Agenesis Of	Frontal bossing, Microcephaly, Macrocephaly, Joint contracture of the hand, Agenesis of corpus ca...	OMIM:217990
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Flat occiput, Partial agenesis of the corpus callosum, Simplified g...	ORPHA:300570
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Camptodactyly of finger, Dysgenesis of the basal ganglia, Hypoplastic anterior commissure, Wrist ...	OMIM:600638
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Death in infancy, Hydrocephalus	OMIM:258320
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macro...	OMIM:618286
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Flexion contracture, Optic atrophy, Hypoplasia of the corpus callosum	OMIM:613162
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric...	ORPHA:171703
Craniotelencephalic Dysplasia	Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal en...	ORPHA:1528
Glycosylphosphatidylinositol Biosynthesis Defect 17	Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly	OMIM:618010
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Optic nerve hypoplasia, Dysphagia, Aplasia/Hypoplasia of ...	ORPHA:572013
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Cortical dysplasia, Simplifie...	OMIM:615763
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Lateral ventricle dilatation, Macroce...	OMIM:600348
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Dolichocephaly, Hydrocephalus, Aplasia/Hypop...	ORPHA:1931
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the b...	OMIM:615771
Spastic Paraplegia 88, Autosomal Dominant	Agenesis of cerebellar vermis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Attention defi...	OMIM:620106
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:618325
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Brachycephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus ...	OMIM:620200
Lissencephaly 3	Cerebellar vermis hypoplasia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, Lissence...	OMIM:611603
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ventriculomegaly, Microcephaly, Death in adolescence, Hypoplasia of the brainstem, Cerebellar hyp...	OMIM:616486
Lissencephaly 1	Subcortical band heterotopia, Abnormal cerebral white matter morphology, Hypoplasia of the brains...	OMIM:607432
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Frontal bossing, Cloverleaf skull, Platybasia, Agenesis of corpus callosum	ORPHA:93267
Ventriculomegaly And Arthrogryposis	Arthrogryposis multiplex congenita, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventricul...	OMIM:619501
Masa Syndrome	Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Frontal bossing, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the co...	ORPHA:3207
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Microcephaly 19, Primary, Autosomal Recessive	Ventriculomegaly, Simplified gyral pattern, Hypoplasia of the corpus callosum, Microcephaly	OMIM:617800
Microlissencephaly	Thick cerebral cortex, Cerebral dysmyelination, Microcephaly, Simplified gyral pattern, Neuronal ...	ORPHA:1083
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Hypoplasia of the cor...	OMIM:618730
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Thick cerebral cortex, Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebe...	OMIM:618677
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Hyperactivity, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus...	OMIM:613402
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Hypoplasia of the pons, Dysplastic corpus callosum, Global brain atrophy, Microcephaly	OMIM:618276
Schisis Association	Encephalocele, Omphalocele, Spina bifida, Microcephaly, Congenital diaphragmatic hernia, Anencephaly	ORPHA:63862
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Megalencephaly, Diffuse white matter abnormalities, Cerebral atrophy, Dysphagia, Diffuse swelling...	OMIM:613925
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Agenesis of corpus callosum, Death in infancy	ORPHA:85334
Masa Syndrome	Agenesis of corpus callosum, Camptodactyly of finger, Ventriculomegaly	ORPHA:2466
Congenital Hydrocephalus	Frontal bossing, Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Small cerebral cortex,...	ORPHA:2185
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Cerebellar hypoplasia, Arthrogryposis multiplex congenita, Agenesis of corpus callo...	OMIM:616570
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypo...	OMIM:304100
Stxbp1-Related Encephalopathy	Hyperactivity, Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Olivopontocerebellar Atrophy-Deafness Syndrome	Ventriculomegaly, Optic atrophy, Cerebral cortical atrophy, Chorioretinal coloboma	ORPHA:2732
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Bicoronal synostosis, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons,...	OMIM:618736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Dandy-Walker malformation, Ventriculomegaly, Agenesis of cerebellar vermis, H...	OMIM:613153
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter...	OMIM:619302
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Aggressive behavior, Simplified gyral pattern, Cerebral a...	OMIM:618492
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Porencephaly	Porencephalic cyst, Ventriculomegaly	ORPHA:2940
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Trisomy 1Q	Omphalocele, Frontal bossing, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydroceph...	ORPHA:261344
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Inguinal hernia, Craniosynostosis, Dolichocephaly, Hydrocephalus, Scaphocephaly,...	OMIM:175700
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Retinal dystrophy, Congenital diaphragmatic hernia, Aplasia/Hypo...	ORPHA:2143
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Retinal dystrophy, Congenital diaphragmatic hernia, Partial agen...	OMIM:222448
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly, Cerebral atrophy	OMIM:612900
Miller-Dieker Syndrome	Omphalocele, Lissencephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum	ORPHA:531
Craniosynostosis 6	Bicoronal synostosis, Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachyceph...	OMIM:616602
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy...	OMIM:301107
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:611808
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Absent septum pellucidum, Holoprosencephaly, Anterior encephalocele	OMIM:601357
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Inguinal hernia, Macrocephaly, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, V...	ORPHA:1568
Bowen-Conradi Syndrome	Death in infancy, Camptodactyly of finger, Ventriculomegaly, Microcephaly	ORPHA:1270
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Inguinal hernia, Microcephaly, Abnormal globus pallidus morphology, Brachycephaly, Plagiocephaly,...	OMIM:618603
Mucolipidosis Iv	Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atrophy, Retinal degener...	OMIM:252650
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Craniosynostosis, Frontal encephalocele, Lissen...	OMIM:218670
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Cerebral ...	ORPHA:85179
Trigonocephaly 1	Trigonocephaly, Omphalocele, Craniosynostosis, Microcephaly	OMIM:190440
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Ventriculomegaly, Hypoplasia of the corpus callosum, Dysphagia, Recurrent hand flapping, Abnormal...	OMIM:617862
Yoon-Bellen Neurodevelopmental Syndrome	Microcephaly, Scaphocephaly, Optic atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, ...	OMIM:619701
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Craniosynostosis, Congenital diaphragmatic hernia, Hydrocephalus, Macrocephaly, ...	ORPHA:380
Polymicrogyria, Bilateral Temporooccipital	Polymicrogyria, Ventriculomegaly, Aggressive behavior	OMIM:612691
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Hypoplasia of the corpus cal...	OMIM:618577
Microhydranencephaly	Multiple joint contractures, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy...	OMIM:605013
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, Attention deficit hyperactivity disorder,...	OMIM:615433
Triploidy	Omphalocele, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holoprosencep...	ORPHA:3376
Bonnemann-Meinecke-Reich Syndrome	Cerebral calcification, Dolichocephaly, Ventriculomegaly, Microcephaly	ORPHA:1261
Holoprosencephaly 7	Omphalocele, Frontal bossing, Flat occiput, Alobar holoprosencephaly, Microcephaly, Hydrocephalus...	OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Retinal dysplasia, Type II lissencephaly	OMIM:614830
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Flexion contracture, Optic atrophy, Bra...	ORPHA:272
Glycine Encephalopathy 1	Death in infancy, Hyperactivity, Restlessness, Impulsivity, Aggressive behavior, Agenesis of corp...	OMIM:605899
Meckel Syndrome, Type 2	Encephalocele, Omphalocele, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:603194
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dysph...	ORPHA:2524
Non-Syndromic Metopic Craniosynostosis	Trigonocephaly, Omphalocele	ORPHA:3366
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Retinal dysplasi...	ORPHA:324416
Pseudotrisomy 13 Syndrome	Encephalocele, Omphalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia...	OMIM:264480
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:616540
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Hydrocephalus, Brachycephaly, Hypoplasia of the corpus callosum, Abnormal shape ...	OMIM:218350
Iniencephaly	Encephalocele, Omphalocele, Spina bifida, Abnormal occipital bone morphology, Congenital diaphrag...	ORPHA:63259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Retinal dysplasia, Death in...	OMIM:614643
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Turricephaly, Craniosynostosis, Microcephaly, Aqueductal ste...	ORPHA:1496
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
Hemimegalencephaly	Abnormal neuron morphology, Pachygyria, Optic atrophy, Cranial asymmetry, Hemimegalencephaly, Mac...	ORPHA:99802
Developmental And Epileptic Encephalopathy 49	Frontal bossing, Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Hyperact...	OMIM:617281
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Lissencephaly 8	Occipital encephalocele, Ventriculomegaly, Microcephaly, Optic atrophy, Hypoplasia of the brainst...	OMIM:617255
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Aggressive behavior, Brachycephaly, Self-injurious behavior, Macrocephaly, Frontal cortical atrop...	OMIM:300699
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Agenesis of corpus...	OMIM:207950
Amish Lethal Microcephaly	Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Optic atrophy, Lissen...	ORPHA:99742
Caudal Duplication	Omphalocele, Myelomeningocele, Spina bifida	ORPHA:1756
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Pachygyria, Ventriculomegaly, Microcephaly	OMIM:617613
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Inguinal hernia, Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tr...	OMIM:619602
Omphalocele	Omphalocele	ORPHA:660
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Joubert Syndrome 15	Retinopathy, Retinal dystrophy, Exencephaly	OMIM:614464
Clcn4-Related X-Linked Intellectual Disability Syndrome	Midface retrusion, Inguinal hernia, Hyperactivity, Microcephaly, Aggressive behavior, Abnormal ce...	ORPHA:485350
Carpenter Syndrome 1	Omphalocele, Sagittal craniosynostosis, Optic atrophy, Brachycephaly, Cerebral atrophy, Aplasia/H...	OMIM:201000
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Aggressive behavior, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:615286
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Corticospinal tract h...	OMIM:307000
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia...	OMIM:616900
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Distal Duplication 15Q	Omphalocele, Camptodactyly of finger, Microcephaly	ORPHA:1707
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia...	OMIM:225790
Autosomal Recessive Primary Microcephaly	Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul...	ORPHA:2512
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus...	OMIM:619955
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Periventricular cysts, Hypoplasia of the brainstem, Abnormal calvaria morpholog...	ORPHA:255138
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Lissenceph...	OMIM:614833
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Frontal bossing, Microcephaly, Hydrocephalus, Optic atrophy, Simplif...	OMIM:615219
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Agenesis of corpus callosum, Macrocephaly	ORPHA:459074
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Camptodactyly of finger, Optic atrophy, Inappropriate laughter, Flexion contracture of toe, Ventr...	OMIM:619323
Leukoencephalopathy With Vanishing White Matter 4	Corpus callosum atrophy, Optic atrophy, Leukoencephalopathy, Cerebral cortical atrophy, Ventricul...	OMIM:620314
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Abnormal retinal morphology, Dolichocephaly, Mic...	ORPHA:89844
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Death in infancy, Cerebral dysmyelination, Hyperintensity of cerebral white matter on MRI, Global...	OMIM:611722
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Retinal detachment, Ventriculomegaly, Optic ne...	ORPHA:370959
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Simp...	OMIM:620001
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Microcephaly, Flexion contracture, Brachycephaly	OMIM:263210
Trisomy 18	Omphalocele, Abnormality of retinal pigmentation, Camptodactyly of finger, Spina bifida, Microcep...	ORPHA:3380
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Ventriculomegaly, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpus ca...	OMIM:617977
Pontocerebellar Hypoplasia, Type 9	Hypoplasia of the pons, Optic atrophy, Dysphagia, Secondary microcephaly, Cerebellar hypoplasia, ...	OMIM:615809
Mosaic Trisomy 1	Omphalocele, Frontal bossing, Cerebellar vermis hypoplasia, Camptodactyly of finger, Congenital d...	ORPHA:1692
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Spina bifida, Chorioretinal degeneration	OMIM:311000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Frontal bossing, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Optic atroph...	OMIM:616975
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, H...	ORPHA:163961
Peho-Like Syndrome	Ventriculomegaly, Optic atrophy, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Po...	OMIM:617507
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of the...	ORPHA:500144
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Aggressive behavior,...	ORPHA:488627
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Flexion contracture, Progressive microcephaly, Hypoplasia of the bra...	OMIM:615249
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Aggressive behavior, Microcephaly, Inappropriate laughter, Bruxism, Abnormal repetitive mannerism...	OMIM:619150
Hypothyroidism, Congenital, Nongoitrous, 6	Relative macrocephaly, Omphalocele	OMIM:614450
Intellectual Developmental Disorder, Autosomal Recessive 69	Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:618383
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Cerebral calcification, Omphalocele	ORPHA:3035
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Frontal bossing, Thick cerebral cortex, Cerebellar vermis hypoplasia, I...	ORPHA:357058
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern, Hypoplastic optic ...	OMIM:617669
Opitz Gbbb Syndrome	Omphalocele, Ventriculomegaly, Inguinal hernia, Craniosynostosis, Microcephaly, Aplasia/Hypoplasi...	ORPHA:2745
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Colpocephaly, Hyp...	OMIM:616034
Narp Syndrome	Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Retinal arteriolar tortuosity, Re...	ORPHA:644
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Inguinal hernia, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, ...	ORPHA:459061
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Dysplastic corpus callosum, Retrobulbar optic neuritis, Secondary microcephaly...	OMIM:619737
Macdermot-Winter Syndrome	Death in infancy, Camptodactyly of finger, Ventriculomegaly, Microcephaly	OMIM:247990
Walker-Warburg Syndrome	Retinal detachment, Ventriculomegaly, Retinal dystrophy, Absent septum pellucidum, Abnormal corti...	ORPHA:899
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Arthrogrypo...	OMIM:616342
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia	OMIM:275100
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Stereotypical hand wringing, ...	OMIM:619179
Familial Scaphocephaly Syndrome, Mcgillivray Type	Macrocephaly, Dolichocephaly, Trigonocephaly, Midface retrusion, Ventriculomegaly	ORPHA:168624
Congenital Muscular Dystrophy With Intellectual Disability	Cerebellar vermis hypoplasia, Multiple joint contractures, Microcephaly, Pigmentary retinopathy, ...	ORPHA:370968
Houge-Janssens Syndrome 3	Frontal bossing, Inguinal hernia, Microcephaly, Plagiocephaly, Self-injurious behavior, Hypoplasi...	OMIM:618354
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Colpocephal...	OMIM:618651
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Camptodactyly of finger, Microcephaly, Optic atrophy, Hypoplasia of the corpus ...	ORPHA:1495
Hogue-Janssen Syndrome 2	Microcephaly, Hydrocephalus, Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus...	OMIM:616362
Bilateral Striopallidodentate Calcinosis	Cerebral calcification, Ventriculomegaly, Microcephaly	ORPHA:1980
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Hydrocephalus, Cerebral cortical atrophy, Congenital diaphragmatic hernia	ORPHA:1834
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, Death in childhood, Pr...	OMIM:610333
Developmental Delay, Language Impairment, And Ocular Abnormalities	Inguinal hernia, Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior, Myelomeningocele,...	OMIM:620141
Marshall-Smith Syndrome	Omphalocele, Frontal bossing, Absent septum pellucidum, Optic nerve hypoplasia, Dolichocephaly, C...	OMIM:602535
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Microcephaly, Cerebral atrophy, Stereotypical hand wringing, Self-injurious behavior, Inappropria...	OMIM:614254
Holoprosencephaly	Encephalocele, Frontal bossing, Omphalocele, Flat occiput, Congenital diaphragmatic hernia, Micro...	ORPHA:2162
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Trigonocephaly, Pachygyria, Agenesis of corpus callosum, V...	OMIM:614583
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Pettigrew Syndrome	Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Aqueductal ...	OMIM:304340
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Progressive macrocephaly, Hernia, Cavum septum pellucidum, Polymic...	OMIM:602501
6Q25 Microdeletion Syndrome	Camptodactyly of finger, Microcephaly, Plagiocephaly, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:251056
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Brachycephaly, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Flexion contracture, Cer...	ORPHA:79243
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly	OMIM:313850
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, K...	OMIM:616531
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum, Brachycephaly, Midface retrusion	OMIM:616854
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Omphalocele, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:2166
Hsd10 Disease	Microcephaly, Optic atrophy, Frontotemporal cerebral atrophy, Dysphagia, Focal white matter lesio...	ORPHA:391417
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly, Hydrocephalus, Ventric...	ORPHA:858
1Q44 Microdeletion Syndrome	Frontal bossing, Optic disc hypoplasia, Microcephaly, Hydrocephalus, Biparietal narrowing, Agenes...	ORPHA:238769
Pentalogy Of Cantrell	Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly	ORPHA:1335
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta	OMIM:182940
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Microcephaly, Dysplastic corpus callosum, Flexion contracture, Death in childhood, Camptodactyly	OMIM:604273
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Omphalocele, Prominent occiput, Dolichocephaly, Midface retrusion	OMIM:617895
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Microcephaly, Aggressive behavior, Hydrocephalus, Optic atrophy, Plagiocephal...	OMIM:619833
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Midface retrusion, Cerebellar vermis hypoplasia, Multiple joint contractures, Perisylvian polymic...	OMIM:618291
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Frontal bossing, Hyperactivity, Craniosynostosis, Microcephaly, Aggressive behavior,...	OMIM:609625
Congenital Neuronal Ceroid Lipofuscinosis	Ventriculomegaly, Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pach...	ORPHA:168486
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Caudate atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebellar vermi...	ORPHA:137831
Pyruvate Dehydrogenase E1-Alpha Deficiency	Frontal bossing, Microcephaly, Cerebral atrophy, Basal ganglia cysts, Agenesis of corpus callosum...	OMIM:312170
17P13.3 Microduplication Syndrome	Frontal bossing, Ventriculomegaly, Inguinal hernia, Hypoplasia of the corpus callosum	ORPHA:217385
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia	OMIM:613630
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micr...	OMIM:618454
3-Hydroxyisobutyric Aciduria	Cerebral calcification, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplas...	ORPHA:939
Leukoencephalopathy, Cystic, Without Megalencephaly	Cerebral calcification, Microcephaly, Leukoencephalopathy, Focal white matter lesions, Ventriculo...	OMIM:612951
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Cort...	ORPHA:101070
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Ventriculomegaly, Macrocephaly	OMIM:300209
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior, Cerebral atrophy, Hypoplasia of th...	ORPHA:500180
Coach Syndrome 2	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Chorioretinal coloboma	OMIM:619111
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Frontal bossing, Inguinal hernia, Microcephaly, Abnormality of the abdominal wall, J...	OMIM:247200
Christianson Syndrome	Death in early adulthood, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Inappropriate ...	ORPHA:85278
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Frontal bossing, Hydrocephalus, Partial agenesis of the corpus callosum, Joint contr...	OMIM:300373
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Retinal neovascularization...	OMIM:619074
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Cerebral white matter atrophy, Impulsivity, Microcephaly, Dilated third ve...	ORPHA:500055
Nasu-Hakola Disease	Cerebral calcification, Hydrocephalus, Abnormal adipose tissue morphology, Disinhibition, Cerebra...	ORPHA:2770
Boomerang Dysplasia	Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:1263
Pagod Syndrome	Encephalocele, Death in infancy, Omphalocele, Spina bifida, Microcephaly, Congenital diaphragmati...	ORPHA:991
Fryns Syndrome	Omphalocele, Congenital diaphragmatic hernia, Dandy-Walker malformation, Agenesis of corpus callo...	ORPHA:2059
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Cerebral atrophy, Abnormal cerebral white matter morphology, Self-injurious behavior, Macrocephal...	OMIM:617268
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Acromelic Frontonasal Dysplasia	Encephalocele, Midline central nervous system lipomas, Meningocele, Choroid plexus cyst, Brachyce...	ORPHA:1827
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Attention d...	ORPHA:467166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Flexion contr...	OMIM:613154
Chromosome 19P13.13 Deletion Syndrome	Frontal bossing, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Self-injurious behavior, Ma...	OMIM:613638
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Hydrocephalus, Anencephaly, Holoprosencephaly, Macrocephaly, Neonat...	OMIM:269860
Developmental And Epileptic Encephalopathy 70	Flexion contracture, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly	OMIM:618298
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Megalencephaly, Hydrocephalus, Thick corpus callosum, Knee flexion contracture, ...	OMIM:603387
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Ventriculomegaly, Microcephaly	ORPHA:2515
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation...	OMIM:613443
Malan Overgrowth Syndrome	Optic disc pallor, Frontal bossing, Optic disc hypoplasia, Scaphocephaly, Plagiocephaly, Lateral ...	ORPHA:420179
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Inguinal hernia, Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick co...	ORPHA:544488
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Relative macrocephaly, Omphalocele, Unicoronal synostosis, Stillbirth, Cerebellar ...	OMIM:616300
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Cortical dysplasia, Hypoplasia of the corpus ca...	ORPHA:457260
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/...	ORPHA:1908
Congenital Muscular Dystrophy Without Intellectual Disability	Microcephaly, Achilles tendon contracture, Abnormal cerebral white matter morphology, Pachygyria,...	ORPHA:370980
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Inguinal hernia, Joint contracture of the hand, Spina bifida, Camptodactyly	OMIM:211960
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at...	OMIM:619244
Developmental And Epileptic Encephalopathy 89	Omphalocele, Flexion contracture, Cerebral atrophy, Death in childhood, Hypoplasia of the corpus ...	OMIM:619124
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Gastroschisis, Spina bifida	ORPHA:2476
3Mc Syndrome 1	Omphalocele, Diastasis recti, Microcephaly, Abnormality of the abdominal wall, Skull asymmetry, L...	OMIM:257920
Intellectual Developmental Disorder, Autosomal Recessive 41	Frontal bossing, Scaphocephaly, Macrocephaly, Self-injurious behavior, Dolichocephaly, Abnormal r...	OMIM:615637
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame...	ORPHA:25
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Omphalocele, Camptodactyly o...	OMIM:249000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Macrocephaly	OMIM:618316
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Optic atrophy, Colpocephaly, Secondary microcephaly, Chokin...	OMIM:620352
Neurodevelopmental Disorder With Involuntary Movements	Microcephaly, Cerebral atrophy, Self-injurious behavior, Hypoplasia of the corpus callosum, Dysph...	OMIM:617493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Microcephaly, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Ventriculomegaly	OMIM:613151
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Flexion contracture, Elbow f...	OMIM:214150
Holoprosencephaly 14	Frontal bossing, Ventriculomegaly, Absent septum pellucidum, Proboscis, Alobar holoprosencephaly,...	OMIM:619895
Snijders Blok-Campeau Syndrome	Frontal bossing, Inguinal hernia, Thin corpus callosum, Attention deficit hyperactivity disorder,...	OMIM:618205
Vacterl/Vater Association	Omphalocele, Occipital encephalocele, Anencephaly, Congenital diaphragmatic hernia	ORPHA:887
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood	OMIM:619423
Temtamy Syndrome	Frontal bossing, Thick corpus callosum, Chorioretinal coloboma, Agenesis of corpus callosum, Self...	OMIM:218340
Otopalatodigital Syndrome Type 2	Encephalocele, Omphalocele, Camptodactyly of finger, Myelomeningocele, Hydrocephalus, Cerebellar ...	ORPHA:90652
Spastic Paraplegia 47, Autosomal Recessive	Microcephaly, Flexion contracture, Hypoplasia of the corpus callosum, Abnormal periventricular wh...	OMIM:614066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Retinal detachment, Agyria, Retinal atrophy, Optic nerve hypoplasia, Dan...	OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Ventriculomegaly, Microcephaly, Hydrocephalus, Partial absence o...	OMIM:613150
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Microcephaly, Plagiocephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of th...	ORPHA:500159
Alg3-Cdg	Cerebral white matter atrophy, Lipodystrophy, Microcephaly, Hypoplasia of the pons, Neural tube d...	ORPHA:79321
4Q21 Microdeletion Syndrome	Frontal bossing, Agenesis of corpus callosum, Self-injurious behavior, Cerebellar hypoplasia, Abn...	ORPHA:238750
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Hydrocephalus, Brachycephaly, Hypoplasia of the corpus callosum, Ma...	OMIM:609757
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Death in infancy, Ventriculomegaly, Meningocele, Chorioretin...	ORPHA:2481
Humero-Radial Synostosis	Meningocele, Chorioretinal coloboma, Microcephaly	ORPHA:3265
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Abnormal occipital bone morphology, Hypoplasia of the pons, Cortical...	ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Flex...	OMIM:253800
Hydrolethalus Syndrome 1	Omphalocele, Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Sever...	OMIM:236680
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca...	OMIM:619103
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,...	ORPHA:2092
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum	ORPHA:588
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Cerebral calcification, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, In...	OMIM:618476
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Death in infancy, Secondary microcephaly, Cerebellar hypoplasia, Neonatal deat...	OMIM:613730
Robinow Syndrome, Autosomal Recessive 2	Relative macrocephaly, Frontal bossing, Ventral hernia, Omphalocele, Camptodactyly, Midface retru...	OMIM:618529
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Microcephaly, Aggressive behavior, Brachycephaly, Hypoplasia of the corpus callosu...	OMIM:300958
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Flat occiput, Abnormal cortical gyration, Pachygyria, Exencephaly, Macrogyria, Bra...	ORPHA:2211
Pontocerebellar Hypoplasia, Type 16	Hypoplasia of the pons, Optic atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia, Dysphagi...	OMIM:619527
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Congenital diaphragmatic hernia	OMIM:601163
Trisomy 5P	Frontal bossing, Dolichocephaly, Ventriculomegaly, Macrocephaly	ORPHA:1742
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida, Microcephaly	ORPHA:64754
Autosomal Recessive Spastic Paraplegia Type 53	Cortical dysplasia, Ventriculomegaly, Microcephaly	ORPHA:319199
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Microcephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:452
Pontocerebellar Hypoplasia, Type 2B	Death in infancy, Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Simplified gyral ...	OMIM:612389
Kohlschutter-Tonz Syndrome	Microcephaly, Cerebral atrophy, Cerebellar hypoplasia, Enamel hypoplasia, Ventriculomegaly, Amelo...	OMIM:226750
Kagami-Ogata Syndrome	Omphalocele, Frontal bossing, Inguinal hernia, Diastasis recti, Flexion contracture	OMIM:608149
Smith-Kingsmore Syndrome	Frontal bossing, Diastasis recti, Reduced cerebral white matter volume, Megalencephaly, Perisylvi...	OMIM:616638
Kleefstra Syndrome Due To A Point Mutation	Inguinal hernia, Microcephaly, Brachycephaly, Plagiocephaly, Abnormal cerebral white matter morph...	ORPHA:261652
Baraitser-Winter Syndrome 1	Microcephaly, Lissencephaly, Chorioretinal coloboma, Trigonocephaly, Pachygyria, Agenesis of corp...	OMIM:243310
Developmental And Epileptic Encephalopathy 65	Plagiocephaly, Ventriculomegaly, Cerebral atrophy, Microcephaly	OMIM:618008
Leukodystrophy, Hypomyelinating, 24	Microcephaly, Flexion contracture, Cerebral atrophy, Thin corpus callosum, Ventriculomegaly	OMIM:619851
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebellar vermis hypoplasia, Microcephaly, Flexion contracture, Pigmentary retinopathy, Cerebell...	OMIM:613156
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Frontal bossing, Midface retrusion, Cerebellar vermis hypoplasia, Hyperactivity, Microcephaly, Fl...	OMIM:619720
Developmental And Epileptic Encephalopathy 99	Microcephaly, Perisylvian polymicrogyria, Thick corpus callosum, Frontotemporal cerebral atrophy,...	OMIM:619606
Curry-Jones Syndrome	Bicoronal synostosis, Megalencephaly, Unicoronal synostosis, Lipomyelomeningocele, Hemimegalencep...	OMIM:601707
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Flat occiput, Femoral hernia, Absent septum pellucidum, Microcephaly, Brachyceph...	ORPHA:96147
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Rod-cone dystrophy, Agenesis of corpus callosum, Diastasis recti	OMIM:618419
Thanatophoric Dysplasia Type 2	Encephalocele, Frontal bossing, Cloverleaf skull, Hydrocephalus, Holoprosencephaly, Macrocephaly,...	ORPHA:93274
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Cerebral white matter atrophy, Ventriculomegaly, Myelopathy, Leukoencephalopathy, C...	OMIM:617186
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum	ORPHA:521390
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Large placenta, Umbilical hernia, Diastasis recti	ORPHA:254534
5Q14.3 Microdeletion Syndrome	Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Frontal...	ORPHA:228384
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Inguinal hernia, Abnormal dental enamel morphology, Hydrocephalus, Macrocephaly,...	ORPHA:1812
Aicardi Syndrome	Retinal detachment, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Dilated third ventr...	OMIM:304050
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
C Syndrome	Trigonocephaly, Omphalocele, Microcephaly	OMIM:211750
Developmental And Epileptic Encephalopathy 1	Ventriculomegaly, Microcephaly, Plagiocephaly, Dysphagia, Global brain atrophy	OMIM:308350
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Retinal colobom...	OMIM:619775
Developmental And Epileptic Encephalopathy 54	Ventriculomegaly, Microcephaly	OMIM:617391
Optic Atrophy 11	Hyperactivity, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Leukoencephalopathy, Stereoty...	OMIM:617302
Desmosterolosis	Relative macrocephaly, Frontal bossing, Microcephaly, Hydrocephalus, Partial agenesis of the corp...	OMIM:602398
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Morning glory anomaly...	OMIM:614424
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Optic atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Arthrogryposis ...	OMIM:615330
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Microcephaly, Hia...	OMIM:305600
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly, Cerebral atrophy, Microcephaly	OMIM:617051
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Microcephaly, Optic atrophy, ...	OMIM:617807
Teebi Hypertelorism Syndrome 1	Omphalocele, Frontal bossing, Coronal craniosynostosis, Sagittal craniosynostosis	OMIM:145420
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, ...	ORPHA:314679
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Flexion contracture, Brachycephaly, Agenesis of corpus callos...	OMIM:218000
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Microcephaly, Meningoc...	ORPHA:2311
Peho Syndrome	Microcephaly, Hydrocephalus, Porencephalic cyst, Optic atrophy, Flexion contracture, Biparietal n...	ORPHA:2836
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Ventriculomegaly, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the cor...	OMIM:615760
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Hypoplasia of the corpus callosum, Macrocephaly, Agenesis of corpus callosum, Ve...	OMIM:613735
Brain Small Vessel Disease 2	Schizencephaly, Porencephalic cyst, Polymicrogyria, Ventriculomegaly	OMIM:614483
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Hydrocephalus	ORPHA:2736
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Retinal dystrophy, Absen...	ORPHA:397715
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Diastasis recti, Large placenta, Flexion contracture, Camptodactyly...	ORPHA:254528
Fibrochondrogenesis 1	Omphalocele, Frontal bossing, Stillbirth, Camptodactyly, Joint contracture of the hand	OMIM:228520
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Spina bifida, Microcephaly, Brachycephaly, Midface retrusion	ORPHA:1327
Chromosome 9P Deletion Syndrome	Trigonocephaly, Inguinal hernia, Omphalocele, Midface retrusion	OMIM:158170
Macrocephaly, Benign Familial	Frontal bossing, Macrocephaly, Biparietal narrowing, Dolichocephaly, Ventriculomegaly	OMIM:153470
Lissencephaly, X-Linked, 2	Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Simpson-Golabi-Behmel Syndrome	Omphalocele, Death in infancy, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic...	ORPHA:373
Lenz-Majewski Hyperostotic Dwarfism	Relative macrocephaly, Frontal bossing, Inguinal hernia, Microcephaly, Dysplastic corpus callosum...	OMIM:151050
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Hyperactivity, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocep...	ORPHA:457284
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic ...	OMIM:603671
Developmental And Epileptic Encephalopathy 64	Microcephaly, Bruxism, Self-injurious behavior, Cerebellar hypoplasia, Hypoplasia of the corpus c...	OMIM:618004
Codas Syndrome	Omphalocele, Broad skull, Hypoplasia of the corpus callosum, Enamel hypoplasia, Ventriculomegaly	OMIM:600373
Curry-Jones Syndrome	Craniosynostosis, Optic disc coloboma, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Simplified gyral pattern, Thick corpus callosum, Hypoplasia of the ...	OMIM:618273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Retinal dystrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasi...	OMIM:616538
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Death in adolescence, Ventriculomegaly, Microcephaly	OMIM:619059
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Retinal coloboma, Polymicrogyria	ORPHA:2328
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:618810
Microcephaly 27, Primary, Autosomal Dominant	Trigonocephaly, Simplified gyral pattern, Ventriculomegaly, Primary microcephaly	OMIM:619180
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Microcephaly, Self-injurious behavior, Holoprosencephaly, Compulsive beh...	ORPHA:261236
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Enamel hypoplasia, Focal white matter lesions	ORPHA:557003
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Joubert Syndrome 1	Optic disc pallor, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Retinal dystro...	OMIM:213300
Otopalatodigital Syndrome, Type I	Prominent occiput, Frontal bossing, Omphalocele	OMIM:311300
Galloway-Mowat Syndrome 5	Ventriculomegaly, Pachygyria, Periventricular leukomalacia, Primary microcephaly	OMIM:617731
1P31P32 Microdeletion Syndrome	Frontal bossing, Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Compulsive behavior...	ORPHA:401986
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Frontal bossing, Hydrocephalus, Optic atrophy, Macrocephaly, Aplasia/Hypoplasia of the cerebellum...	ORPHA:60040
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Papilledema, Brachycephaly	ORPHA:371428
Fryns Syndrome	Omphalocele, Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory tract, Aplasia of...	OMIM:229850
Juvenile Huntington Disease	Abnormal cerebral white matter morphology, Hyperactivity, Neuronal loss in basal ganglia, Ventric...	ORPHA:248111
Exstrophy-Epispadias Complex	Omphalocele, Inguinal hernia, Spina bifida, Microcephaly, Hydrocephalus, Cystocele, Abnormality o...	ORPHA:322
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Prune belly	OMIM:601389
X-Linked Intellectual Disability, Cantagrel Type	Ventriculomegaly, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of the co...	ORPHA:85277
Cloacal Exstrophy	Omphalocele, Spina bifida, Myelomeningocele, Bladder exstrophy, Cloacal exstrophy	ORPHA:93929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Microcephaly, Achilles tendon contracture, Abnormal cerebral white matter morp...	OMIM:606612
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Microcephaly, Flexion contracture, Optic atrophy, Elbow flexion contracture, Dys...	OMIM:617301
Melnick-Needles Syndrome	Omphalocele, Frontal bossing, Craniofacial hyperostosis	ORPHA:2484
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Self-mutilation, Self hugging, Brachycephaly, Head-banging, On...	OMIM:182290
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Frontal polymicrogyria, Cerebral dysmyelination, Hypoplasia of the pons, Perisylvian polymicrogyr...	OMIM:606854
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Frontal bossing, Periventricular leukomalacia, Flat occiput, Optic atrophy, Hypoplasia of the cor...	OMIM:618547
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Parietal foramina, Myelomeningocele, Encephalomalacia	ORPHA:60015
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Relative macrocephaly, Hyperactivity, Aggressive behavior, Cortical dysplasia, Simplified gyral p...	OMIM:300354
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Flexion contracture, Large basal ganglia, Agenesis of corpus callos...	ORPHA:261552
Kagami-Ogata Syndrome	Omphalocele, Frontal bossing, Inguinal hernia, Diastasis recti, Large placenta, Dysphagia	ORPHA:254519
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Optic atrophy, Cerebra...	OMIM:614576
Linear Verrucous Nevus Syndrome	Aplasia/Hypoplasia of the fovea, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Dandy-W...	ORPHA:2611
Apert Syndrome	Frontal bossing, Cloverleaf skull, Absent septum pellucidum, Hydrocephalus, Optic atrophy, Acrobr...	ORPHA:87
Smith-Magenis Syndrome	Retinal detachment, Frontal bossing, Microcephaly, Brachycephaly, Aplasia/Hypoplasia of the corpu...	ORPHA:819
Emanuel Syndrome	Ventriculomegaly, Multiple joint contractures, Inguinal hernia, Congenital diaphragmatic hernia, ...	ORPHA:96170
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Hydrocephalus, Macrocephaly, Midface retrusion, Ventriculomegaly	ORPHA:2655
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Microcephaly, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxi...	OMIM:618342
Xq12-Q13.3 Duplication Syndrome	Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Microcephaly, Bulimia, Agitation,...	ORPHA:314389
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Ventriculomegaly, Meningocele, Biparietal narrowing, Chorioretinal coloboma	ORPHA:2031
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar hypoplasia, Self-injurious behavior, Cerebral cortical atrophy, Ventriculomegaly	OMIM:619922
Desmosterolosis	Frontal bossing, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalu...	ORPHA:35107
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Self-mutilation, Hypoplasia of olfactory tract, Congenital stationar...	ORPHA:314621
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Microcephaly, Flexion contracture, Optic atrophy, Cerebral atrophy, Parietal bo...	OMIM:609180
Thanatophoric Dysplasia, Type Ii	Frontal bossing, Cloverleaf skull, Cerebellar hypoplasia, Temporal lobe dysplasia, Neonatal death...	OMIM:187601
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Congenital diaphragmatic hernia, Hydrocephalus, Aplasia/Hypoplasia of ...	ORPHA:1647
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Multiple joint contractures, Microcephaly, Diffuse white matter abnormalities, Optic atrophy, Hyp...	ORPHA:466934
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Encephalocraniocutaneous Lipomatosis	Subcutaneous lipoma, Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia...	OMIM:613001
Fg Syndrome Type 1	Inguinal hernia, Progressive flexion contractures, Optic nerve hypoplasia, Craniosynostosis, Hydr...	ORPHA:93932
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Attention deficit hyperactivity disorder, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:619556
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Secondary microcephaly, Ventriculomegaly	OMIM:618241
Rasmussen Subacute Encephalitis	Hyperactivity, Abnormal basal ganglia morphology, Subcortical cerebral atrophy, Cerebral cortical...	ORPHA:1929
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Camptodactyly, Ventriculomegaly, Mild microcephaly	ORPHA:363444
Recombinant Chromosome 8 Syndrome	Brachycephaly, Cerebral atrophy, Secondary microcephaly, Camptodactyly, Joint contracture of the ...	OMIM:179613
Joubert Syndrome 9	Encephalocele, Retinal dystrophy, Ventriculomegaly	OMIM:612285
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Craniosynostosis, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the ...	OMIM:301056
Fumarase Deficiency	Relative macrocephaly, Frontal bossing, Reduced subcutaneous adipose tissue, Microcephaly, Optic ...	OMIM:606812
3C Syndrome	Death in infancy, Ventriculomegaly, Frontal bossing, Inguinal hernia, Hydrocephalus, Optic atroph...	ORPHA:7
Constricting Bands, Congenital	Encephalocele, Bladder exstrophy, Omphalocele, Gastroschisis	OMIM:217100
Pyruvate Dehydrogenase Deficiency	Frontal bossing, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Multiple lipomas, Trigo...	ORPHA:765
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, Aplasia of th...	ORPHA:2437
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Death in infancy, Enamel hypoplasia, Death in childhood	OMIM:243150
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Turricephaly, Spina bifida, Microcephaly, Hydrocephalus, Elbow flexion ...	OMIM:613776
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Holoprosencephaly, Microcephaly	ORPHA:3186
Beare-Stevenson Cutis Gyrata Syndrome	Flat occiput, Cloverleaf skull, Redundant umbilical skin, Craniosynostosis, Hydrocephalus, Optic ...	OMIM:123790
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Frontal bossing, Peripheral retinal avascularization, Miscarriage, Interphalangeal j...	ORPHA:96334
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Plagiocephaly, Hypoplasia of the brains...	OMIM:617822
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Decreased calvarial ossification, Ventriculomegaly, Microce...	ORPHA:2772
Lipoyltransferase 1 Deficiency	Abnormal cerebral white matter morphology, Ventriculomegaly, Death in infancy	OMIM:616299
Rere-Related Neurodevelopmental Syndrome	Frontal bossing, Cerebellar vermis hypoplasia, Optic atrophy, Dysphagia, Self-injurious behavior,...	ORPHA:494344
Chromosome 1Q41-Q42 Deletion Syndrome	Frontal bossing, Congenital diaphragmatic hernia, Microcephaly, Cerebellar hypoplasia, Holoprosen...	OMIM:612530
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Microcephaly, Aggressive behavior, Self-injurious behavior, Hypoplasia of the corpus callosum, Pr...	ORPHA:404473
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Frontal bossing, Inguinal hernia, Absent septum pellucidum, Abnormal dental enamel m...	ORPHA:2273
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele	OMIM:601927
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Optic ...	OMIM:615574
Fibrochondrogenesis	Plagiocephaly, Omphalocele, Camptodactyly of finger	ORPHA:2021
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Diffuse cerebral atrophy, Severe temper tantrums, Aggressive behavior, Optic atrophy, Leukoenceph...	OMIM:617710
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia, Sagittal craniosynostosis, Encephalomalacia, Macrocephaly, Umbilical hern...	OMIM:615879
Spastic Paraplegia 50, Autosomal Recessive	Optic disc pallor, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly	OMIM:612936
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Ventriculomegaly, Primary microcephaly	ORPHA:2172
Alg9-Cdg	Omphalocele, Frontal bossing, Lipodystrophy, Brachycephaly, Cerebral atrophy, Progressive microce...	ORPHA:79328
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Frontal bossing, Hyperactivity, Diastasis recti, Megalencephaly, Macrocephaly, Polymicrogyria, Ve...	ORPHA:457485
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder	OMIM:618974
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Brachycephal...	OMIM:257300
Pontocerebellar Hypoplasia, Type 2E	Ventriculomegaly, Microcephaly, Flexion contracture, Optic atrophy, Cerebral atrophy, Secondary m...	OMIM:615851
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Ventriculomegaly, Microcephaly	ORPHA:2643
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Hypopl...	OMIM:616546
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Ce...	OMIM:243605
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Cerebral atrophy, Hypopla...	OMIM:614969
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Hiatus hernia, Partial age...	ORPHA:50
Warburg Micro Syndrome 3	Microcephaly, Flexion contracture, Optic atrophy, Brachycephaly, Secondary microcephaly, Hypoplas...	OMIM:614222
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum ...	OMIM:616449
Beck-Fahrner Syndrome	Microcephaly, Brachycephaly, Attention deficit hyperactivity disorder, Macrocephaly, Periventricu...	OMIM:618798
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:618619
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aggressive behavior, Leukoencephalopathy,...	ORPHA:572798
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Cerebellar vermis hypoplasia, Flat occiput, Flexion contracture, Optic atrophy, Plagiocephaly, Hy...	OMIM:619383
Rahman Syndrome	Camptodactyly, Thin corpus callosum, Ventriculomegaly, Macrocephaly	OMIM:617537
Leukodystrophy, Hypomyelinating, 12	Microcephaly, Flexion contracture, Optic atrophy, Secondary microcephaly, Hypoplasia of the corpu...	OMIM:616683
C Syndrome	Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Microcephaly, Aplasia/Hypoplasia ...	ORPHA:1308
Intellectual Developmental Disorder, Autosomal Dominant 51	Aggressive behavior, Fixated interests, Tics, Attention deficit hyperactivity disorder, Macroceph...	OMIM:617788
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Frontal bossing, Macrocephaly, Camptodactyly, Midface retrusion	OMIM:616894
Neu-Laxova Syndrome	Ventriculomegaly, Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortic...	ORPHA:2671
Emanuel Syndrome	Ventriculomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, ...	OMIM:609029
Dpm1-Cdg	Flat occiput, Optic atrophy, Cerebral atrophy, Knee flexion contracture, Secondary microcephaly, ...	ORPHA:79322
Wildervanck Syndrome	Meningocele, Pseudopapilledema	ORPHA:3456
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Megalencephaly, Periventricular white matter hyperintensities, Macrocephaly, Cerebral white matte...	ORPHA:500533
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Joubert Syndrome 31	Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:617761
49,Xyyyy Syndrome	Turricephaly, Impulsivity, Abnormal cerebral white matter morphology, Trigonocephaly, Ventriculom...	ORPHA:99330
Fraser Syndrome	Encephalocele, Death in infancy, Omphalocele, Microcephaly, Myelomeningocele, Umbilical hernia, C...	ORPHA:2052
Isolated Exencephaly	Abnormal calvaria morphology, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis o...	ORPHA:563612
Chromosome 13Q14 Deletion Syndrome	Frontal bossing, Inguinal hernia, Absent septum pellucidum, Dolichocephaly, Holoprosencephaly, Hy...	OMIM:613884
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Ventriculomegaly, Congenital diaphragmatic hernia, Spina bifida	ORPHA:1120
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Death in infancy, Neuronal loss in basal ganglia, Cerebral atrophy, Dolichocephaly, Basal ganglia...	OMIM:604377
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia, Optic nerve hypop...	OMIM:605627
Chromosome 2P16.1-P15 Deletion Syndrome	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Brachycephaly, ...	OMIM:612513
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Retinal degeneration	OMIM:615630
Mitochondrial Complex I Deficiency, Nuclear Type 37	Inguinal hernia, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Cerebral cortical atrop...	OMIM:619272
Mitochondrial Complex I Deficiency, Nuclear Type 33	Reduced cerebral white matter volume, Optic atrophy, Simplified gyral pattern, Cerebellar hypopla...	OMIM:618253
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Aggressive behavior, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Chorioretinal colo...	ORPHA:284169
Methylcobalamin Deficiency Type Cble	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of the brainst...	ORPHA:2169
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Frontal bossing, Cerebellar hypoplasia, Macrocephaly, Dandy-Walker malformation, Age...	ORPHA:93271
Den Hoed-De Boer-Voisin Syndrome	Microcephaly, Brachycephaly, Stereotypical hand wringing, Death in adolescence, Lateral ventricle...	OMIM:619229
Knobloch Syndrome 1	Occipital encephalocele, Retinal detachment, Optic disc pallor, Absent septum pellucidum, Microce...	OMIM:267750
Multiple Sulfatase Deficiency	Ventriculomegaly, Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matter morpholo...	OMIM:272200
Galloway-Mowat Syndrome 9	Microcephaly, Hiatus hernia, Secondary microcephaly, Cerebral cortical atrophy, Thin corpus callo...	OMIM:619603
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Frontal bossing, Turricephaly, Microcephaly, Megalencephaly, Hydrocephalus, Plagiocephaly, Macroc...	OMIM:613603
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Cerebellar hypoplasia	OMIM:306955
Cerebrocostomandibular Syndrome	Death in infancy, Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Meningoce...	ORPHA:1393
Lissencephaly Due To Lis1 Mutation	Thick cerebral cortex, Ventriculomegaly, Cerebellar vermis hypoplasia, Progressive microcephaly, ...	ORPHA:95232
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Spina bifida, Hydrocephalus, Retinal coloboma, Hydranencephaly	ORPHA:2839
Kleefstra Syndrome	Microcephaly, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation, Brachycephaly...	ORPHA:261494
Oeis Complex	Omphalocele, Myelomeningocele, Hydrocephalus, Bladder exstrophy, Cloacal exstrophy	OMIM:258040
Fountain Syndrome	Craniofacial hyperostosis, Spina bifida, Macrocephaly, Spina bifida occulta, Midface retrusion	ORPHA:3219
Neu-Laxova Syndrome 2	Spina bifida, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Ventriculomegaly	OMIM:616038
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Dolichocephaly,...	OMIM:612651
Lateral Meningocele Syndrome	Inguinal hernia, Hydrocephalus, Meningocele, Keloids, Dolichocephaly, Platybasia, Umbilical herni...	OMIM:130720
Jacobsen Syndrome	Death in infancy, Frontal bossing, Inguinal hernia, Spina bifida, Cerebral atrophy, Attention def...	ORPHA:2308
19P13.12 Microdeletion Syndrome	Hyperactivity, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Brach...	ORPHA:254346
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flat occiput, Microcephaly, Flexion contracture, Brachycephaly, Hypoplasia of the corpus callosum...	OMIM:617452
Fanconi Anemia, Complementation Group B	Death in infancy, Optic disc hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the ...	OMIM:300514
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Microcephaly, Achilles tendon contracture, Flexion contracture, Brachycephaly, D...	OMIM:301041
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Flat occiput, Limb joint contracture, Microcephaly, Brachycephaly, Aplasia/Hypoplasia of the corp...	ORPHA:505237
Sandestig-Stefanova Syndrome	Hypoplasia of the corpus callosum, Camptodactyly, Trigonocephaly, Primary microcephaly, Ventricul...	OMIM:618804
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Prominent occiput, Hypoplasia of...	OMIM:618500
Combined Oxidative Phosphorylation Deficiency 39	Microcephaly, Flexion contracture, Simplified gyral pattern, Cerebral atrophy, Congenital contrac...	OMIM:618397
Apert Syndrome	Absent septum pellucidum, Sagittal craniosynostosis, Megalencephaly, Craniosynostosis, Hydrocepha...	OMIM:101200
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Frontal bossing, Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpu...	OMIM:617260
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Umbilical hernia, Death in infancy	ORPHA:2241
Fanconi Anemia, Complementation Group W	Abnormal periventricular white matter morphology, Midface retrusion, Ventriculomegaly, Microcephaly	OMIM:617784
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Microcephaly, Bruxism, Agitation, Macrocephaly, Recurrent hand flapping, Ventriculomegaly	OMIM:617903
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele	ORPHA:3329
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Cerebral calcification, Lipodystrophy, Absent septum pellucidum, Cereb...	ORPHA:2396
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Microcephaly, Aggressive behavior, Perisylvian polymicrogyria, Hypoplasia of the corpus callosum,...	OMIM:619121
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Microcephaly, Hydrocephalus, Diffuse white matter abnormalities, Optic atrophy...	OMIM:259720
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Microcephaly, Aggressive behavior, Tongue thrusting, Thin corpus callosum, Attention...	OMIM:619580
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Otopalatodigital Syndrome, Type Ii	Omphalocele, Frontal bossing, Elbow contracture, Spina bifida, Hydrocephalus, Stillbirth, Umbilic...	OMIM:304120
Acrocephalopolydactylous Dysplasia	Omphalocele, Oxycephaly, Craniosynostosis	OMIM:200995
Zttk Syndrome	Relative macrocephaly, Frontal bossing, Craniosynostosis, Dysplastic corpus callosum, Flexion con...	OMIM:617140
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Death in infancy, Inguinal hernia, Microcephaly, Hypoplasia of the corpus callosum, ...	OMIM:308205
Hallermann-Streiff Syndrome	Frontal bossing, Hyperactivity, Spina bifida, Microcephaly, Optic disc coloboma, Scaphocephaly, B...	OMIM:234100
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Cerebral white matter atrophy, Ventriculomegaly, Inguinal hernia, Abnormal cortical gyration, Mic...	ORPHA:79351
16Q24.3 Microdeletion Syndrome	Frontal bossing, Optic nerve hypoplasia, Colpocephaly, Biparietal narrowing, Hypoplasia of the co...	ORPHA:261250
Sotos Syndrome	Frontal bossing, Dolichocephaly, Aggressive behavior, Partial agenesis of the corpus callosum, At...	OMIM:117550
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Microcephaly, Hydrocephalus, Optic atrophy, Abnormal cerebral white matter morphology, Abnormal p...	ORPHA:395
Pseudo-Torch Syndrome 1	Cerebral calcification, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Umbilical hernia, Pac...	OMIM:251290
Adnp Syndrome	Inguinal hernia, Microcephaly, Oral-pharyngeal dysphagia, Aggressive behavior, Polyphagia, Brachy...	ORPHA:404448
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Microcephaly, Brachycephaly, Lobar holoprosencephaly, Skull asymmetry, Enamel agenesis, Ventricul...	OMIM:614701
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:616355
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Death in childhood, B...	OMIM:614946
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Frontal bossing, Diffuse cerebral atrophy, Microcephaly, Optic atrophy, Plagiocephaly, Secondary ...	OMIM:617193
Monosomy 9Q22.3	Hyperactivity, Hydrocephalus, Calcification of falx cerebri, Macrocephaly, Trigonocephaly, Umbili...	ORPHA:77301
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Optic atrophy, Leukoencephalopathy, Hypoplasia of the cor...	ORPHA:79325
Neu-Laxova Syndrome 1	Ventriculomegaly, Spina bifida, Camptodactyly, Choroid plexus cyst, Yellow subcutaneous tissue co...	OMIM:256520
Weaver Syndrome	Inguinal hernia, Flat occiput, Absent septum pellucidum, Diastasis recti, Lateral ventricle dilat...	OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 64	Microcephaly, Plagiocephaly, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Ven...	OMIM:619188
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Death in early adulthood, Frontal bossing, Craniofacial hype...	ORPHA:192
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi...	OMIM:617397
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hyperactivity, Craniosynostosis, Dolichocephaly, Congenital diaph...	ORPHA:96121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Microcephaly, Retinal degeneration, Hydrocephalus, Optic atrop...	OMIM:253280
Lethal Congenital Contracture Syndrome 10	Omphalocele	OMIM:617022
Takenouchi-Kosaki Syndrome	Ventriculomegaly, Inguinal hernia, Optic atrophy, Abnormal cerebral white matter morphology, Camp...	OMIM:616737
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microcephaly, Abnormal repetitive mannerisms, Abnormal opti...	ORPHA:508498
Thoraco-Abdominal Enteric Duplication	Meningocele, Camptodactyly of finger	ORPHA:1759
Holoprosencephaly 3	Proboscis, Microcephaly, Holoprosencephaly, Midface retrusion, Ventriculomegaly	OMIM:142945
Linear Nevus Sebaceus Syndrome	Frontal bossing, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus cal...	ORPHA:2612
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, M...	OMIM:620024
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Diastasis recti, Choroid plexus cyst, Brachycephaly, Neonatal death, Ventriculomegaly	OMIM:265380
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Frontal bossing, Inguinal hernia, Camptodactyly of finger, Craniosyn...	ORPHA:2462
Trisomy 20P	Frontal bossing, Inguinal hernia, Camptodactyly of finger, Spina bifida, Brachycephaly, Plagiocep...	ORPHA:261318
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Increased head circumferenc...	ORPHA:268810
Familial Multiple Lipomatosis	Cerebral calcification, Lipodystrophy, Increased adipose tissue, Chorioretinitis, Hypoplasia of t...	ORPHA:199276
Acropectorovertebral Dysplasia	Camptodactyly of finger, Spina bifida	ORPHA:957
Rhombencephalosynapsis	Septo-optic dysplasia, Agenesis of cerebellar vermis, Hydrocephalus, Macrocephaly, Ventriculomegaly	ORPHA:59315
Mosaic Trisomy 9	Camptodactyly of finger, Spina bifida, Microcephaly, Prominent occiput, Biparietal narrowing, Dan...	ORPHA:99776
Trichothiodystrophy	Ventriculomegaly, Multiple joint contractures, Cerebral dysmyelination, Microcephaly, Craniosynos...	ORPHA:33364
Galloway-Mowat Syndrome 1	Ventriculomegaly, Flat occiput, Microcephaly, Hiatus hernia, Optic atrophy, Cerebral atrophy, Joi...	OMIM:251300
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Anorexia, Periventricular cysts, Subependymal cysts, Increased cau...	ORPHA:3008
Goldberg-Shprintzen Megacolon Syndrome	Ventriculomegaly, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:66629
Chromosome 18Q Deletion Syndrome	Inguinal hernia, Microcephaly, Optic atrophy, Abnormal cerebral white matter morphology, Cerebell...	OMIM:601808
Thanatophoric Dysplasia Type 1	Frontal bossing, Cloverleaf skull, Hydrocephalus, Macrocephaly, Ventriculomegaly	ORPHA:1860
Molybdenum Cofactor Deficiency, Complementation Group B	Frontal bossing, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the corp...	OMIM:252160
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Ventriculomegaly, Inguinal hernia, Hyperactivity, Dolichocephaly, Aggr...	ORPHA:581
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Tenorio Syndrome	Hydrocephalus, Macrocephaly, Cavum septum pellucidum, Cerebral cortical atrophy, Ventriculomegaly	OMIM:616260
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Relative macrocephaly, Frontal bossing, Impulsivity, Aggressive behavior, Dysplastic corpus callo...	OMIM:300967
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Intracerebral periventricular calcifications, Microcephaly, Elbow flexion contr...	OMIM:608836
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Dolichocephaly, Ventriculomegaly, Microcephaly	ORPHA:2083
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Meningocele, Dolichocephaly, Umbilical hernia	ORPHA:2789
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Ventriculomegaly, Abnormal cortical gyration, Cessation of head growth, Optic atrophy, Contractur...	OMIM:617527
Microcephaly 30, Primary, Autosomal Recessive	Inguinal hernia, Cerebral cortical atrophy, Ventriculomegaly, Primary microcephaly	OMIM:620183
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Flexion contracture, Arthrogryposis multiplex congenita, Inferiorly...	OMIM:263650
Esophageal Atresia	Omphalocele, Oral aversion, Dysphagia	ORPHA:1199
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Large placenta, P...	ORPHA:116
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Retinal dystrophy, Hypoplasia of the corpus callosum, Polymicrogyri...	ORPHA:370997
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cerebral calcification, Ventriculomegaly, Microcephaly	ORPHA:1933
Galloway-Mowat Syndrome 3	Frontal bossing, Microcephaly, Hiatus hernia, Simplified gyral pattern, Cerebral atrophy, Lissenc...	OMIM:617729
Cerebrofaciothoracic Dysplasia	Midface retrusion, Cerebellar vermis hypoplasia, Brachycephaly, Hypoplasia of the corpus callosum...	ORPHA:1394
Vacterl With Hydrocephalus	Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Abnormal optic...	ORPHA:3412
Malan Syndrome	Ventriculomegaly, Midface retrusion, Hypoplasia of the corpus callosum, Macrocephaly	OMIM:614753
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Optic nerve hypoplasia, Camptodactyly of finger, Microcephaly, Optic atrophy, Br...	ORPHA:261349
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Microcephaly, Cerebral atrophy, Plagiocephaly, Abnormal cerebral white matter morphology, Hypopla...	OMIM:615471
Phelan-Mcdermid Syndrome	Dolichocephaly, Microcephaly, Aggressive behavior, Tongue thrusting, Bruxism, Macrocephaly, Abnor...	OMIM:606232
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Frontal bossing, Hyperactivity, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Macrocephaly...	OMIM:300486
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Hartsfield Syndrome	Craniosynostosis, Microcephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Agenesis of co...	OMIM:615465
Limb Body Wall Complex	Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Diastasis recti, Spina bifida, Conge...	ORPHA:2369
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Macrocephaly, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:615182
Seckel Syndrome 9	Congenital diaphragmatic hernia, Microcephaly, Scaphocephaly, Simplified gyral pattern, Dolichoce...	OMIM:616777
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Spina bifida, Partial agenesis of the corpus callosum, Plagiocephaly, Dolichocep...	OMIM:619480
Charge Syndrome	Omphalocele, Microcephaly, Retinal coloboma, Holoprosencephaly, Dysphagia, Umbilical hernia, Self...	OMIM:214800
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Macr...	ORPHA:261197
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal basal ganglia MRI signal intensity, Ventriculomegaly, Hypoplasia of the corpus callosum,...	ORPHA:431361
Plaa-Associated Neurodevelopmental Disorder	Cerebral white matter atrophy, Abnormal cortical gyration, Microcephaly, Optic atrophy, Leukoence...	ORPHA:521426
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Rod-cone dystrophy, Miscarriage, Ventriculomegaly	ORPHA:96181
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Relative macrocephaly, Frontal bossing, Ventriculomegaly, Optic nerve hypoplasia, Sagittal cranio...	ORPHA:500150
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Alobar holoprosencephaly, Colpocepha...	OMIM:301043
Bohring-Opitz Syndrome	Ventriculomegaly, Retinal atrophy, Microcephaly, Optic atrophy, Bilateral wrist flexion contractu...	ORPHA:97297
Okamoto Syndrome	Omphalocele, Midface retrusion, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:2729
Beckwith-Wiedemann Syndrome	Omphalocele, Diastasis recti, Prominent occiput, Midface retrusion, Dandy-Walker malformation	OMIM:130650
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Diastasis recti, Flexion contracture, Subcortical cerebral atrophy, Macrocephaly...	ORPHA:440713
Developmental And Epileptic Encephalopathy 80	Optic disc pallor, Death in infancy, Abnormal cerebral white matter morphology, Hypoplasia of the...	OMIM:618580
Toriello-Carey Syndrome	Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypopl...	ORPHA:3338
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Dolichocephaly, Ventriculom...	OMIM:617866
Khan-Khan-Katsanis Syndrome	Frontal bossing, Cerebellar vermis hypoplasia, Microcephaly, Corneal scarring, Pigmentary retinop...	OMIM:618460
Plasminogen Deficiency, Type I	Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Dandy-Walker malformation, Ventriculomegaly	OMIM:217090
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ...	ORPHA:444072
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial...	OMIM:620305
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Microcephaly, Craniosynostosis, Hydrocephalus, Optic atrophy, Inappropriate laughte...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Microcephaly, Craniosynostosis, Hydrocephalus, Optic atrophy, Inappropriate laughte...	ORPHA:363958
Melnick-Needles Syndrome	Omphalocele, Stillbirth	OMIM:309350
Aymé-Gripp Syndrome	Inguinal hernia, Craniosynostosis, Congenital diaphragmatic hernia, Hydrocephalus, Brachycephaly,...	ORPHA:1272
Semilobar Holoprosencephaly	Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Dysphagia, Neural tube defect, Atten...	ORPHA:220386
Alobar Holoprosencephaly	Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Dysphagia, Neural tube defect, Atten...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Dysphagia, Neural tube defect, Atten...	ORPHA:93926
Lobar Holoprosencephaly	Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Dysphagia, Neural tube defect, Atten...	ORPHA:93924
Holoprosencephaly 1	Proboscis, Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis ...	OMIM:236100
Xfe Progeroid Syndrome	Microcephaly, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Death in adolescence,...	OMIM:610965
Pontocerebellar Hypoplasia, Type 10	Ventriculomegaly, Reduced cerebral white matter volume, Microcephaly, Simplified gyral pattern, H...	OMIM:615803
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Umbilical hernia, Brachycephaly	ORPHA:1519
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Basal Cell Nevus Syndrome 1	Frontal bossing, Spina bifida, Hydrocephalus, Calcification of falx cerebri, Macrocephaly, Pariet...	OMIM:109400
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Frontal bossing, Megalencephaly, Thick corpus callosum, Macrocephaly...	OMIM:617011
Ablepharon Macrostomia Syndrome	Omphalocele, Umbilical hernia, Camptodactyly of finger	ORPHA:920
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Microcephaly, Plagiocephaly, Left unicoronal synostosis, Anterior plagiocephaly, Ventriculomegaly	OMIM:614749
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Frontal bossing, Inguinal hernia, Brachycephaly, Umbilical hernia, V...	OMIM:618188
Lathosterolosis	Cerebral calcification, Meningocele, Biparietal narrowing, Microcephaly	ORPHA:46059
White-Kernohan Syndrome	Dysplastic corpus callosum, Midface retrusion, Attention deficit hyperactivity disorder	OMIM:619426
Manitoba Oculotrichoanal Syndrome	Omphalocele	OMIM:248450
Roifman-Chitayat Syndrome	Umbilical hernia, Optic atrophy, Ventriculomegaly	OMIM:613328
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Sacral lipoma	OMIM:600145
Distal Deletion 3P	Inguinal hernia, Microcephaly, Brachycephaly, Umbilical hernia, Ventriculomegaly	ORPHA:1620
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Aggressive behavior, Cerebral edema, Cerebral atrophy, Abnormal cerebral white matter morphology,...	OMIM:618321
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Microcephaly, Basal gangli...	OMIM:216400
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Basal ganglia calcification, Optic atrophy, Pigmentary retinopathy, Ventriculomegaly	OMIM:610651
D-Bifunctional Protein Deficiency	Frontal bossing, Ventriculomegaly, Cerebral dysmyelination, Dolichocephaly, Corpus callosum atrop...	OMIM:261515
Bilateral Polymicrogyria	4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Perisylvian polymicrogy...	ORPHA:268940
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Proboscis, Microcephaly, Alobar holoprosencephaly, Holop...	OMIM:157170
Witteveen-Kolk Syndrome	Branchial fistula, Frontal bossing, Inguinal hernia, Hyperactivity, Congenital diaphragmatic hern...	OMIM:613406
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Occipital meningocele, Polymicrogyria, Agenesis...	OMIM:277170
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Relative macrocephaly, Frontal bossing, Aggressive behavior, Dysplastic corpus callosum, Plagioce...	ORPHA:466791
Cardiac Diverticulum	Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti	ORPHA:1686
Cerebellofaciodental Syndrome	Microcephaly, Hypoplasia of the pons, Aggressive behavior, Cerebellar hypoplasia, Thin corpus cal...	OMIM:616202
Gillespie Syndrome	Cerebellar hypoplasia, Thin corpus callosum, Ventriculomegaly	OMIM:206700
Adams-Oliver Syndrome 1	Encephalocele, Ventriculomegaly, Microcephaly, Calvarial skull defect, Cortical dysplasia, Hypopl...	OMIM:100300
Pallister-Killian Syndrome	Relative macrocephaly, Frontal bossing, Omphalocele, Inguinal hernia, Congenital diaphragmatic he...	OMIM:601803
22Q11.2 Deletion Syndrome	Turricephaly, Inguinal hernia, Abnormal dental enamel morphology, Spina bifida, Microcephaly, Ret...	ORPHA:567
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Macular atrophy, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ve...	OMIM:619418
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Abnormal periventricular white mat...	ORPHA:1855
Arima Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Retinal dystrophy, Agenesis of cerebellar...	OMIM:243910
Hoyeraal-Hreidarsson Syndrome	Cerebral calcification, Microcephaly, Cerebellar hypoplasia, Cerebral cortical atrophy, Ventricul...	ORPHA:3322
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly	ORPHA:264200
Orofaciodigital Syndrome Xvi	Inguinal hernia, Retinopathy, Ventriculomegaly	OMIM:617563
Mosaic Variegated Aneuploidy Syndrome	Frontal bossing, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Apla...	ORPHA:1052
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Frontal bossing, Retinal dystrophy, Craniosynostosis, Microcephaly, Scaphocephaly, Macular degene...	OMIM:266920
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Ventriculomegaly, Inguinal hernia, Microcephaly, Flexion contracture, Optic atrophy, Hypoplasia o...	ORPHA:487796
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Sacral lipoma	ORPHA:2003
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Craniosynostosis, Microcephaly, Flexion contracture, Optic atrophy, Brachycephaly,...	OMIM:309590
Molybdenum Cofactor Deficiency, Complementation Group A	Frontal bossing, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly,...	OMIM:252150
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Umbilical hernia, Ventriculomegaly, Hypoplasia of the corpus callosum, Abnormal cerebral white ma...	OMIM:614501
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Ankle flexion contracture, Microcephaly, Hypoplasia of the...	ORPHA:464311
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele	ORPHA:436252
Smith-Lemli-Opitz Syndrome	Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Microcephaly, Optic atrophy, ...	ORPHA:818
1P36 Deletion Syndrome	Frontal bossing, Camptodactyly of finger, Microcephaly, Abnormal repetitive mannerisms, Ocular al...	ORPHA:1606
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Frontal bossing, Flexion contracture, Lateral ventricle dilatation, Hypoplasia of the corpus call...	OMIM:619479
Gabriele-De Vries Syndrome	Craniosynostosis, Oral-pharyngeal dysphagia, Abnormal cerebral white matter morphology, Distal ar...	ORPHA:506358
Rubinstein-Taybi Syndrome 1	Frontal bossing, Hyperactivity, Spina bifida, Microcephaly, Parietal foramina, Impulsivity, Flexi...	OMIM:180849
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Retinal dysplasia, Craniosynostosis	OMIM:601374
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Limb joint contracture, Microcephaly, Flexion contracture, Brachycephaly, Neuronal loss in the ce...	OMIM:301072
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Dy...	OMIM:617248
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Megalencephaly, Diffuse white matter abnormalities, Thick corpus cal...	ORPHA:457359
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Multiple joint contractures, Microcephaly, Hypoplasia of the br...	ORPHA:464306
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Fibular Hemimelia	Craniosynostosis, Thoracoabdominal wall defect, Spina bifida	ORPHA:93323
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Caribbean Parkinsonism	T2 hypointense basal ganglia, Lewy bodies, Midline brain calcifications, Cerebral cortical atroph...	ORPHA:97355
Schinzel-Giedion Syndrome	Frontal bossing, Inguinal hernia, Choroid plexus cyst, Dysphagia, Neural tube defect, Camptodacty...	ORPHA:798
Fanconi Anemia	Frontal bossing, Spina bifida, Microcephaly, Hydrocephalus, Dolichocephaly, Umbilical hernia, Ven...	ORPHA:84
De Sanctis-Cacchione Syndrome	Microcephaly, Basal ganglia calcification, Optic atrophy, Cerebral atrophy, Global brain atrophy,...	OMIM:278800
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Camptodactyly	OMIM:200110
Proboscis Lateralis	Optic nerve hypoplasia, Proboscis, Optic disc coloboma, Holoprosencephaly, Chorioretinal coloboma...	ORPHA:141099
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Abnormal repetitive mannerisms, Hydrocephalus, Periventri...	OMIM:194190
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele	ORPHA:3164
Lumbar Syndrome	Myelomeningocele, Bladder exstrophy, Spina bifida	ORPHA:83628
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Umbilical hernia, Ventriculomegaly, Optic atrophy, Cerebral atrophy	OMIM:618164
Shprintzen Omphalocele Syndrome	Omphalocele	OMIM:182210
Hydranencephaly	Ventriculomegaly, Optic nerve hypoplasia, Chorioretinal atrophy, Primary microcephaly, Cerebral c...	ORPHA:2177
Microphthalmia, Syndromic 6	Retinal dystrophy, Microcephaly, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Plagio...	OMIM:607932
Aicardi-Goutières Syndrome	Cerebral calcification, Multiple joint contractures, Lipoatrophy, Microcephaly, Porencephalic cys...	ORPHA:51
Marfan Syndrome	Retinal detachment, Inguinal hernia, Meningocele, Attention deficit hyperactivity disorder, Dolic...	ORPHA:558
Campomelic Dysplasia	Relative macrocephaly, Frontal bossing, Spina bifida, Contracture of the distal interphalangeal j...	OMIM:114290
Waardenburg Syndrome, Type 1	Myelomeningocele, Hypopigmentation of the fundus, Spina bifida	OMIM:193500
Peters Plus Syndrome	Frontal bossing, Inguinal hernia, Microcephaly, Hydrocephalus, Optic atrophy, Brachycephaly, Apla...	ORPHA:709
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Brachycephaly, Cerebellar hypoplasi...	OMIM:274000
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Reduced cerebral white matter volume, Microcephaly, Perisylvian polymicrogyria, Brachycephaly, Ce...	OMIM:610442
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Hydrocephalus, Brachycephaly, Hypoplasia of the corpus callosum, Abnormal temper tan...	ORPHA:2072
Ring Chromosome 7 Syndrome	Microcephaly, Brachycephaly, Plagiocephaly, Holoprosencephaly, Cerebral cortical atrophy, Ventric...	ORPHA:1449
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Congenital Myopathy 13	Microcephaly, Flexion contracture, Brachycephaly, Midface retrusion, Ventriculomegaly	OMIM:255995
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida, Macrocephaly	OMIM:162200
Peters-Plus Syndrome	Frontal bossing, Diastasis recti, Craniosynostosis, Microcephaly, Hydrocephalus, Cerebral atrophy...	OMIM:261540
Gaucher Disease	Death in infancy, Ventriculomegaly, Hydrocephalus, Arthrogryposis multiplex congenita, Dysphagia,...	ORPHA:355
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Meester-Loeys Syndrome	Relative macrocephaly, Frontal bossing, Camptodactyly, Dolichocephaly, Umbilical hernia, Joint co...	OMIM:300989
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Microcephaly, Repetitive compulsive behavior, Lower-limb joint contracture, Stereotypical body ro...	ORPHA:513456
Phocomelia, Schinzel Type	Meningocele, Calvarial skull defect	ORPHA:2879
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Lipoma	ORPHA:573278
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Papilledema, Miscarriage, Aggressive behavior, Myelo...	ORPHA:3385
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Flexion contracture of finger, Meningocele	ORPHA:1010
Primrose Syndrome	Hip contracture, Restlessness, Cerebral calcification, Aggressive behavior, Flexion contracture, ...	OMIM:259050
Sotos Syndrome	Hip contracture, Inguinal hernia, Cerebellar vermis hypoplasia, Craniosynostosis, Dolichocephaly,...	ORPHA:821
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha...	ORPHA:2152
Vater/Vacterl Association	Occipital encephalocele, Spina bifida, Patent urachus	OMIM:192350
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, Decreased calvarial ossification, Elbow flexion contracture	OMIM:276820

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Marcks

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Marcks.

No publications found that use IMPC mice or data for Marcks.

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MGI Allele	Allele Type	Produced
Marcks^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Marcks^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Marcks^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Marcks^{tm2b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Marcks^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Marcks^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Marcks MGI:96907

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Adult LacZ

X-ray

Human diseases caused by Marcks mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data