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Gene: Emx1 MGI:95387

Gene Summary

Name:

empty spiracles homeobox 1

Synonyms:

N/A

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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal heart morphology	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal uterus morphology	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased lean body mass	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	5.37×10^-06
decreased total body fat amount	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.73×10^-06
enlarged heart	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased brain weight	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.53×10^-07
decreased grip strength	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.84×10^-05
abnormal bone structure	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	8.88×10^-05
female infertility	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased bone mineral content	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.33×10^-08
hydrometra	Emx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00

Download data as: TSV XLS

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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
Epididymis	Section images	heterozygote	50% (1 of 2)
Ileum	Section images	heterozygote	50% (1 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	100% (2 of 2)
Prostate gland	Section images	heterozygote	50% (1 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	0.0% (0 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Jejunum	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	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	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)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	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)
Tongue	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)
Vagina	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	Not available

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%
blood
bone marrow
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%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
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 adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Emx1 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 Emx1 (0 diseases)
Human diseases predicted to be associated with Emx1 (649 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Emx1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Teratocarcinoma-Derived growth factor 1	Absent septum pellucidum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:187395
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly	ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen...	OMIM:615771
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum	OMIM:166990
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H...	OMIM:611603
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po...	ORPHA:250972
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Premature Ovarian Failure 2B	Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility	OMIM:300604
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Lissencephaly, X-Linked, 1	Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria	OMIM:300067
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:85179
Ring Chromosome Y Syndrome	Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy...	ORPHA:261529
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Masa Syndrome	Agenesis of corpus callosum	ORPHA:2466
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Congenital Disorder Of Glycosylation, Type Iiy	Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:620200
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Thin corpus callosum	OMIM:618286
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum	OMIM:619466
Craniotelencephalic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Lissencephaly, Cerebellar hypoplasia, Agenesis ...	OMIM:218670
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C...	OMIM:619302
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior ...	ORPHA:171680
Ethanolaminosis	Cardiomegaly	OMIM:227150
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:616570
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus cal...	ORPHA:1528
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Band Heterotopia	Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr...	OMIM:600348
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:304100
Premature Ovarian Failure 13	Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Autosomal Recessive Primary Microcephaly	Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly	ORPHA:2512
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp...	ORPHA:255138
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly	OMIM:618766
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi...	OMIM:615095
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p...	OMIM:616171
Masa Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:303350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Simplified gyral pa...	OMIM:613153
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel...	OMIM:600118
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Glycine Encephalopathy 1	Agenesis of corpus callosum	OMIM:605899
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:307000
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ...	OMIM:620135
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Craniosynostosis, Cardiomegaly	ORPHA:88643
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ...	OMIM:614833
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agene...	OMIM:618736
Septooptic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:182230
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia necrosis, ...	ORPHA:79243
Aromatase Deficiency	Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ...	ORPHA:91
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Holoprosencephaly 11	Agenesis of corpus callosum, Microcephaly	OMIM:614226
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria	OMIM:616342
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per...	OMIM:604360
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o...	ORPHA:168486
Foxg1 Syndrome	Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph...	ORPHA:561854
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Abnormal globus pallidus morphology, Agenesis of corpus callosum, Hypoplasia of the corpus callos...	OMIM:618603
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum	OMIM:617542
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Perrault Syndrome 4	Premature ovarian insufficiency, Osteoporosis, Obesity, Secondary amenorrhea, Primary amenorrhea,...	OMIM:615300
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Anencephaly	OMIM:614120
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly	OMIM:614096
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteoporosis, Azoospermi...	OMIM:235200
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	OMIM:616819
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:617695
Microhydranencephaly	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag...	OMIM:605013
Premature Ovarian Failure 7	Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter...	OMIM:612964
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec...	ORPHA:983
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri...	OMIM:607196
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal...	ORPHA:89844
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Oculocerebrocutaneous Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walker malformation	OMIM:164180
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co...	OMIM:620316
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr...	OMIM:619517
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab...	ORPHA:755
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Microcephaly	OMIM:615286
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea...	ORPHA:168563
Linear Skin Defects With Multiple Congenital Anomalies 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, S...	ORPHA:500144
46,Xy Sex Reversal 11	Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal...	OMIM:273250
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the ...	OMIM:614837
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia cysts, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:312170
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Dextrocardia, Female infertility	OMIM:617577
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Failure to thrive	OMIM:269920
Combined Oxidative Phosphorylation Deficiency 2	Agenesis of corpus callosum	OMIM:610498
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:614583
Attrv30M Amyloidosis	Cardiomyopathy, Impotence, Weight loss, Cardiomegaly	ORPHA:85447
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructiv...	ORPHA:432
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:618078
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Primary microcephaly	ORPHA:466688
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Partial Androgen Insensitivity Syndrome	Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral...	ORPHA:90797
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly, Cerebellar hy...	OMIM:615249
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Microcephaly	OMIM:245349
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi...	ORPHA:99429
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Polymicrogyria...	OMIM:225790
Coach Syndrome 2	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Cerebral atrophy, Colpocephaly, Hypoplasia ...	OMIM:620156
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	ORPHA:380
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:616602
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis o...	OMIM:617669
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Microcephaly, Di...	ORPHA:370959
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Enamel hypoplasia, Thi...	OMIM:253250
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven...	OMIM:616900
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:251056
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ...	ORPHA:90796
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Premature Ovarian Failure 18	Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ...	OMIM:619203
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Primary Ciliary Dyskinesia	Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ...	ORPHA:244
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
Corpus Callosum Agenesis-Neuronopathy Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility, Aplasia of the ovary	OMIM:614324
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2182
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Osteoporosi...	OMIM:239850
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene...	OMIM:214150
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Joubert Syndrome 18	Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Microcephaly	OMIM:618346
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy	OMIM:256550
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum	OMIM:615433
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteoporosis, Weight los...	ORPHA:465508
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Cardiomegaly	OMIM:613576
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Ventricular septal defect, Hypospadias, Small for gestational age, Cardiomegaly, Flex...	OMIM:616897
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Camptodactyly, Le...	OMIM:300280
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Hogue-Janssen Syndrome 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616362
Fg Syndrome 3	Agenesis of corpus callosum	OMIM:300406
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut...	OMIM:110100
Frontonasal Dysplasia 1	Pericallosal lipoma, Agenesis of corpus callosum	OMIM:136760
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly	ORPHA:858
Craniofacial Dyssynostosis With Short Stature	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:218350
Subependymal Nodular Heterotopia	Partial agenesis of the corpus callosum, Focal cortical dysplasia, Polymicrogyria	ORPHA:101030
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the ...	OMIM:619665
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities	OMIM:619737
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t...	ORPHA:2524
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia	OMIM:619074
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	OMIM:175700
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi...	ORPHA:90793
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:618117
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Agenesis of corpus callosum, Microcephaly	ORPHA:452
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo...	OMIM:614841
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the brainstem, Progressive microcephaly, Hypoplasia of the corpus callosum, Hyperin...	ORPHA:481152
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:521308
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria	OMIM:252920
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Agenesis of corpus callosum	OMIM:218000
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Failu...	OMIM:614702
4Q21 Microdeletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:238750
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ...	OMIM:158330
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:614129
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly	OMIM:619064
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca...	OMIM:620352
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Premature ovarian insufficiency, Female infertility	OMIM:619518
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopat...	OMIM:212140
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Primary amenorrhea	OMIM:617690
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Combined Oxidative Phosphorylation Deficiency 24	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly	OMIM:620001
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618619
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Macrogyria, Lissencephaly, Ce...	ORPHA:899
Cardiac-Urogenital Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Scimitar anomaly, Atrial septal defect, Micropeni...	OMIM:618280
Estrogen Resistance	Osteopenia, Hypoplasia of the uterus, Primary amenorrhea, Polycystic ovaries	OMIM:615363
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, ...	ORPHA:168558
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Temtamy Syndrome	Agenesis of corpus callosum, Thick corpus callosum	OMIM:218340
Baraitser-Winter Syndrome 1	Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly	OMIM:243310
Satoyoshi Syndrome	Hypoplasia of the uterus, Osteolytic defects of the phalanges of the hand, Amenorrhea	OMIM:600705
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ...	ORPHA:324410
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, ...	ORPHA:289548
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ...	OMIM:620073
Estrogen Resistance Syndrome	Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Osteoporosis, Primary a...	ORPHA:785
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Lissencephaly, Microcephaly	ORPHA:99742
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu...	OMIM:619720
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus ...	OMIM:609053
Vici Syndrome	Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr...	ORPHA:1493
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus	ORPHA:99927
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620250
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the corpus callosum,...	OMIM:613001
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:363705
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:301056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the corpus callosum, H...	OMIM:614643
Hydrolethalus	Anencephaly, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Ring Chromosome 22 Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:1446
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum	OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Agyria, Hypoplasia of the pyramidal tract, Hypoplasia of the brainstem, Lissencephaly, Cerebellar...	OMIM:253800
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ...	OMIM:615802
Brain Malformations With Or Without Urinary Tract Defects	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:613735
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Agenesis of corpus callosum	OMIM:109120
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Small cerebral cortex, Hypoplasia of the corpus callosum, Periventricular leukomala...	OMIM:617360
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Müllerian Aplasia And Hyperandrogenism	Obesity, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of...	ORPHA:247768
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Aplasia/Hypoplasia of th...	ORPHA:3157
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Small for gestational age, Cardiomegaly	OMIM:613320
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Distal arthrogryposis, Cachexia, Cardiomegaly	ORPHA:42
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene...	OMIM:616449
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Microcephaly	OMIM:300004
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:990
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Microcephaly, Co...	ORPHA:468631
Ritscher-Schinzel Syndrome 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:619435
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop...	ORPHA:96147
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ...	ORPHA:357058
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Simplified gyral pattern, Colpocephaly, Lissencephaly, Agenesis of corpus callosum	OMIM:615219
Chiari Malformation Type Ii	Agenesis of corpus callosum	OMIM:207950
Intellectual Disability-Strabismus Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:363528
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Cerebellar hypoplasia, Hyperintensity of cerebral white matter on MRI, Ag...	OMIM:618476
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc...	OMIM:619103
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Emanuel Syndrome	Microcephaly, Cerebral atrophy, Abnormal cerebral white matter morphology, Agenesis of corpus cal...	ORPHA:96170
Radio-Tartaglia Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:619312
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618872
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microcephaly, Partial absence of cerebellar vermis, Hypoplasia of the brainstem, Cerebellar hypop...	OMIM:613150
Agnathia-Otocephaly Complex	Agenesis of corpus callosum	OMIM:202650
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum	OMIM:618109
Microphthalmia, Syndromic 9	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypo...	OMIM:601186
Birk-Landau-Perez Syndrome	Pachygyria, Agenesis of corpus callosum, Microcephaly	OMIM:617595
Immunodeficiency 49	Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Macrogyria, Lisse...	ORPHA:35107
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Cardiomegaly, Loss of truncal subcutaneous adipose tissue, Abnorma...	ORPHA:2463
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Chromosome 6Pter-P24 Deletion Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ...	ORPHA:314679
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Congenital Disorder Of Deglycosylation 2	Thin corpus callosum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Poly...	OMIM:619775
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Intellectual Developmental Disorder, Autosomal Dominant 22	Agenesis of corpus callosum, Microcephaly	OMIM:612337
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Cutis Laxa, Autosomal Recessive, Type Iib	Agenesis of corpus callosum, Microcephaly	OMIM:612940
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation	OMIM:617296
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Ventricular septal defect, Camptodactyly of finger,...	OMIM:602782
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:612863
1Q44 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:238769
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Polymicrogyria	ORPHA:220497
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Abnormal basal ganglia morphology, Pachygyr...	ORPHA:157
Fucosidosis	Hepatomegaly, Failure to thrive, Lipoatrophy, Cardiomegaly	ORPHA:349
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Inguinal hernia, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Congenital di...	OMIM:245600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Hypoplasia of the brainstem,...	OMIM:236670
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Cantú Syndrome	Abnormal heart valve morphology, Cardiomegaly, Osteoporosis, Umbilical hernia, Hypertrophic cardi...	ORPHA:1517
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly	OMIM:614473
Toriello-Carey Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus...	ORPHA:3338
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Trisomy 1Q	Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:605039
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Aplasia of the uterus	OMIM:146255
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lissencephaly, Cortical dysplasi...	OMIM:615287
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Vanishing te...	ORPHA:325124
Fumarase Deficiency	Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Polymicrogyria, Agene...	OMIM:606812
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly	ORPHA:99931
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ...	OMIM:608836
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Polymicrogyria	ORPHA:220493
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Agenesis of corpus callosum	OMIM:618929
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l...	ORPHA:506
Meckel Syndrome 14	Ambiguous genitalia, Decreased calvarial ossification, Aplasia of the uterus, Single ventricle	OMIM:619879
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ...	ORPHA:464738
Mosaic Variegated Aneuploidy Syndrome 1	Microcephaly, Hypodysplasia of the corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformat...	OMIM:257300
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:617260
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:619148
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Agenesis of corpus callosum	ORPHA:77298
Chromosome 14Q11-Q22 Deletion Syndrome	Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Thin co...	OMIM:613457
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert...	ORPHA:90794
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Premature ovarian insufficiency, Bicuspid aortic valve, Failure to thrive in infancy,...	ORPHA:99413
Turner Syndrome	Osteopenia, Premature ovarian insufficiency, Bicuspid aortic valve, Failure to thrive in infancy,...	ORPHA:881
Mosaic Monosomy X	Osteopenia, Premature ovarian insufficiency, Bicuspid aortic valve, Failure to thrive in infancy,...	ORPHA:99228
Monosomy X	Osteopenia, Premature ovarian insufficiency, Bicuspid aortic valve, Failure to thrive in infancy,...	ORPHA:99226
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Amed Syndrome, Digenic	Hypoplasia of the uterus, Failure to thrive	OMIM:619151
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At...	ORPHA:79330
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Acromelic Frontonasal Dysplasia	Agenesis of corpus callosum, Hypoplasia of the olfactory bulb	ORPHA:1827
Thrombocytopenia-Absent Radius Syndrome	Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus	ORPHA:3320
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenes...	OMIM:243605
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Calcification of falx cerebri, Hypopla...	OMIM:603671
Pseudotrisomy 13 Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:264480
Developmental And Epileptic Encephalopathy 49	Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, Microcephaly	OMIM:617281
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Agenesis of corpus callosum	ORPHA:3301
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:1812
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight, Neonatal dea...	OMIM:608013
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Umbilic...	OMIM:618143
Monosomy 13Q34	Agenesis of corpus callosum, Microcephaly	ORPHA:96168
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Curry-Jones Syndrome	Polymicrogyria, Agenesis of corpus callosum, Hemimegalencephaly, Megalencephaly	OMIM:601707
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum	OMIM:618810
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Kleefstra Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:261494
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Ovotes...	OMIM:309801
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Microform Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:280200
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:563612
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Cardiomegaly	OMIM:105210
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Agenesis of corpus callosum	OMIM:309520
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Exstrophy-Epispadias Complex	Omphalocele, Bifid scrotum, Inguinal hernia, Bifid uterus, Cryptorchidism, Epispadias, Cystocele,...	ORPHA:322
Halperin-Birk Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:618651
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Melas	Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Hypoplasia of the c...	ORPHA:550
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly	OMIM:268800
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:261236
Xp21 Deletion Syndrome	Agenesis of corpus callosum	ORPHA:261476
Sotos Syndrome	Cavum septum pellucidum, Partial agenesis of the corpus callosum	OMIM:117550
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Periventricular cysts, Increased caudate lactate level, Hyperinten...	ORPHA:3008
Duplication Of The Pituitary Gland	Hypoplasia of olfactory tract, Agenesis of corpus callosum, Microcephaly	ORPHA:314621
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:85201
Peroxisome Biogenesis Disorder 5A (Zellweger)	Macrogyria, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum, Polymic...	OMIM:614866
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
8P Inverted Duplication/Deletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:96092
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Cerebellar hypopla...	OMIM:619512
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
21Q22.11Q22.12 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:261323
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:300000
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Endocrine-Cerebroosteodysplasia	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Absent septum pellucidum, Foca...	OMIM:612651
Apert Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:87
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Fryns Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation	ORPHA:2059
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Bifid uterus	ORPHA:2736
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Inguinal hernia, Craniosynostosis, Cardiomegaly, Splenomegaly, Camptoda...	OMIM:252500
Orofaciodigital Syndrome V	Agenesis of corpus callosum, Microcephaly	OMIM:174300
Lethal Congenital Contracture Syndrome 10	Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum	OMIM:618733
Marshall-Smith Syndrome	Absent septum pellucidum, Optic nerve hypoplasia, Cerebral atrophy, Macrogyria, Cerebellar hypopl...	OMIM:602535
Orofaciodigital Syndrome Vi	Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Porencephalic cyst, Polymicrogyria	OMIM:277170
Mucopolysaccharidosis Type 3	Hepatomegaly, Craniofacial hyperostosis, Inguinal hernia, Cardiomegaly, Splenomegaly, Flexion con...	ORPHA:581
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Po...	OMIM:620305
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:847
Opitz Gbbb Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the corpus callosum, Age...	ORPHA:2745
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Oeis Complex	Omphalocele, Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal...	OMIM:258040
Brain-Lung-Thyroid Syndrome	Cavum septum pellucidum, Agenesis of corpus callosum, Microcephaly	ORPHA:209905
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Thakker-Donnai Syndrome	Agenesis of corpus callosum	ORPHA:1780
Desmosterolosis	Partial agenesis of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	OMIM:602398
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Failure to thrive, Lipodystrophy, Camptodactyly of finger, Cardiomegaly, Splenomega...	OMIM:256040
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Hernia, Failure to thrive	OMIM:230000
15Q Overgrowth Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Apert Syndrome	Cerebellar hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Megalencephaly	OMIM:101200
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Periventricular l...	ORPHA:33364
Alexander Disease	Cerebral calcification, Agenesis of corpus callosum, Megalencephaly	ORPHA:58
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Abno...	ORPHA:3464
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
1Q21.1 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:250989
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Olivopont...	ORPHA:457284
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Failure to...	ORPHA:308552
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Microphthalmia, Syndromic 3	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:206900
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancre...	OMIM:130650
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum, Microce...	OMIM:618500
Beare-Stevenson Cutis Gyrata Syndrome	Agenesis of corpus callosum	OMIM:123790
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym...	OMIM:618820
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal...	OMIM:301043
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:242840
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:151050
Aicardi Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Lateral vent...	OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Periventricular leukomal...	ORPHA:508498
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Priapism, Cardiomegaly	OMIM:603903
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Hypoplas...	OMIM:202010
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619418
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Bohring-Opitz Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Microc...	ORPHA:97297
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Cardiomyopathy, Cardiomegaly	ORPHA:158687
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:609441
Fanconi Anemia, Complementation Group D2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:227646
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Agenesis of corpu...	OMIM:311200
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Flexion contracture, Osteoporosis, Left ventricular hypertrophy, Hype...	ORPHA:365
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus	ORPHA:1521
Holoprosencephaly 14	Absent septum pellucidum, Microcephaly, Partial agenesis of the corpus callosum, Partial absence ...	OMIM:619895
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Failure to thrive	ORPHA:137675
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Yunis-Varon Syndrome	Absent sternal ossification, Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism...	ORPHA:3472
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:352665
Mycophenolate Mofetil Embryopathy	Agenesis of corpus callosum	ORPHA:268249
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome...	OMIM:300967
Marden-Walker Syndrome	Cerebellar hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2461
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by th...	OMIM:256520
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re...	ORPHA:95430
Ogden Syndrome	Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardi...	OMIM:300855
Pancreatic Agenesis-Holoprosencephaly Syndrome	Agenesis of corpus callosum	ORPHA:556955
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach...	ORPHA:50
Okamoto Syndrome	Omphalocele, Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morph...	ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type	Inguinal hernia, Cryptorchidism, Cigarette-paper scars, Cystocele, Osteolytic defects of the phal...	OMIM:130050
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Abetalipoproteinemia	Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly	ORPHA:14
Coffin-Siris Syndrome	Agenesis of corpus callosum, Simplified gyral pattern, Dandy-Walker malformation, Microcephaly	ORPHA:1465
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum	OMIM:305450
Acrocallosal Syndrome	Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Hydrolethalus Syndrome 1	Omphalocele, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular cana...	OMIM:236680
Holoprosencephaly 7	Partial agenesis of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Hypoplasia of...	OMIM:610828
Trisomy 8P	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Hepatosplenomegaly, Aplasia of the uterus, Atrial septal defect, Atrio...	OMIM:274000
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Cardiomegaly, Hepatosplenomegaly, Micropenis, Panniculi...	ORPHA:51
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Meckel Syndrome, Type 1	Microcephaly, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus c...	OMIM:249000
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Cardiomegaly, Large ...	ORPHA:116
Jacobsen Syndrome	Pachygyria, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:2308
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Atrial septal defect, Incre...	ORPHA:904
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Koolen-De Vries Syndrome Due To A Point Mutation	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:363958
Chromosome 13Q14 Deletion Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum	OMIM:613884
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality of connective tissue, Inguinal hernia, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Wolf-Hirschhorn Syndrome	Ventricular septal defect, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchi...	OMIM:194190
Fryns Syndrome	Hypoplasia of olfactory tract, Hypoplasia of the optic tract, Agenesis of corpus callosum, Dandy-...	OMIM:229850
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H...	OMIM:241080
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Microcephaly	ORPHA:280
Monosomy 9P	Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive	OMIM:618278
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callosum, Colpocephaly, Hy...	OMIM:270400
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Orofaciodigital Syndrome Type 1	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum	OMIM:300373
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Small for gestational age, Cranios...	OMIM:201750
Limb-Mammary Syndrome	Aplasia of the uterus, Primary amenorrhea, Aplasia of the ovary	ORPHA:69085
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:615948
Lenz-Majewski Hyperostotic Dwarfism	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Small for gestation...	OMIM:107480
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:619841
Gabriele-De Vries Syndrome	Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ...	ORPHA:506358
Holoprosencephaly 9	Partial agenesis of the corpus callosum, Abnormal cortical gyration, Optic nerve hypoplasia, Micr...	OMIM:610829
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Rubinstein-Taybi Syndrome 1	Hyperintensity of cerebral white matter on MRI, Agenesis of corpus callosum, Microcephaly	OMIM:180849
Zttk Syndrome	Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos...	OMIM:617140
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus	OMIM:614083
Orofaciodigital Syndrome Type 14	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W...	ORPHA:434179
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere...	ORPHA:2273
Hartsfield Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:615465
Coffin-Siris Syndrome 1	Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Cryptor...	OMIM:135900
Simpson-Golabi-Behmel Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Liver Disease, Severe Congenital	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Hypospadias, C...	OMIM:619991
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Pachygyria, Leukoencephalopathy, Lateral ventricle dilatation, Hypoplasia of the co...	OMIM:607872
Microphthalmia With Linear Skin Defects Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2556
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Loeys-Dietz Syndrome	Atypical scarring of skin, Camptodactyly of finger, Craniosynostosis, Uterine rupture	ORPHA:60030
Holoprosencephaly 1	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:236100
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
Degcags Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:619488
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619480
1P36 Deletion Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:1606
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white matter morphology, ...	ORPHA:500150
Singleton-Merten Syndrome 1	Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O...	OMIM:182250
Renal Cysts And Diabetes Syndrome	Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ...	OMIM:137920
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ...	ORPHA:75565
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Semilobar Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:220386
Alobar Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:93926
Lobar Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:93924
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Decreased calvarial ossifi...	OMIM:276820
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cigarette-paper sc...	ORPHA:286
Baller-Gerold Syndrome	Polymicrogyria, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:218600
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Monosomy 22Q13.3	Agenesis of corpus callosum	ORPHA:48652
Wiedemann-Rautenstrauch Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261537
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:95494
Wiedemann-Rautenstrauch Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Abnormal corpus striatum morp...	ORPHA:3455
Focal Dermal Hypoplasia	Agenesis of corpus callosum, Microcephaly	OMIM:305600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Simplified gyral pattern, ...	OMIM:220111
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261552
Peters-Plus Syndrome	Hypoplasia of the vagina, Ventricular septal defect, Hypospadias, Craniosynostosis, Cryptorchidis...	OMIM:261540
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Small scrotum, Ventricular septal defect, Hypospadias, Congenital d...	OMIM:601803
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Failure to thrive in infancy, Osteomalacia, Cardiomegaly, Pericardial ef...	ORPHA:51608
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Holoprosencephaly 2	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:157170
Peters Plus Syndrome	Inguinal hernia, Hypospadias, Cryptorchidism, Bicuspid pulmonary valve, Hypoplasia of the uterus,...	ORPHA:709
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	ORPHA:466791
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha...	ORPHA:2152
Witteveen-Kolk Syndrome	Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ...	OMIM:613406
Norrie Disease	Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Failure to thrive	ORPHA:649
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:312870
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callo...	OMIM:216340
Townes-Brocks Syndrome	Agenesis of corpus callosum	ORPHA:857
Craniofacial Microsomia 1	Agenesis of corpus callosum	OMIM:164210

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 Emx1

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 Emx1.

No publications found that use IMPC mice or data for Emx1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Emx1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Emx1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Emx1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Emx1^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Emx1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Emx1^{tm1a(EUCOMM)Hmgu}	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: Emx1 MGI:95387

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Adult LacZ

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Emx1 mutations

Histopathology

IMPC related publications

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