Gene Summary

Name:
empty spiracles homeobox 1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal bone structure Emx1tm1.1(KOMP)Vlcg HOM Early adult 9.62×10-05
female infertility Emx1tm1.1(KOMP)Vlcg HOM Early adult 0.00
hydrometra Emx1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal uterus morphology Emx1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased lean body mass Emx1tm1.1(KOMP)Vlcg HOM Early adult 8.65×10-05
enlarged heart Emx1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Emx1tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased brain weight Emx1tm1.1(KOMP)Vlcg HOM   Early adult 1.03×10-06
increased bone mineral content Emx1tm1.1(KOMP)Vlcg HOM   Early adult 1.64×10-08
decreased grip strength Emx1tm1.1(KOMP)Vlcg HOM Early adult 4.06×10-05
decreased total body fat amount Emx1tm1.1(KOMP)Vlcg HOM   Early adult 2.09×10-06

Download data as:  TSV  XLS

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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 Not available
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 Not available
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 Not available
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

25 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Specific Language Impairment 5
Hyperintensity of cerebral white matter on MRI OMIM:615432
Teratocarcinoma-Derived growth factor 1
Microcephaly, Hypoplasia of the corpus callosum, Absent septum pellucidum OMIM:187395
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Cerebellar hypoplasia, Hypoplasia of the co... OMIM:610031
Lissencephaly 4
Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Micr... OMIM:614019
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum, Co... OMIM:614039
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... ORPHA:101029
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Cerebellar hypoplasia, Hypoplasia of the corpus ... OMIM:608716
Lissencephaly 3
Lissencephaly, Pachygyria, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Polymicrogy... OMIM:611603
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Cerebellar h... OMIM:604213
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
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy ORPHA:401830
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Hypoplasia of the brainstem, Po... ORPHA:250972
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum, Ce... ORPHA:85179
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy ORPHA:401820
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Simplified gyral pattern, Absent septum pellucidum, Hypoplasia of the brainstem, Cerebral atrophy... OMIM:618492
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Agenesis of corpus callosum OMIM:600348
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Lissencephaly, X-Linked, 1
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Agyria OMIM:300067
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis of the basal gangl... ORPHA:300573
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:617090
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Simplified gyral pa... OMIM:616051
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Inferior vermis hyp... OMIM:304100
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Abnormality of the basal ganglia, Hyp... ORPHA:255182
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Developmental And Epileptic Encephalopathy 88
Partial agenesis of the corpus callosum, Progressive microcephaly, Hypoplasia of the pons, Inferi... OMIM:618959
Ethanolaminosis
Cardiomegaly OMIM:227150
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Absent septum pellucidum, Cerebellar hypoplasia, Lissenc... OMIM:218670
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly OMIM:619025
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly OMIM:619466
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern OMIM:616681
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum OMIM:211200
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Microcephaly OMIM:616342
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Hypoplasia of the pons, Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly OMIM:617669
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus ... ORPHA:1528
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy ORPHA:166024
Mental Retardation, Autosomal Dominant 22
Agenesis of corpus callosum, Microcephaly OMIM:612337
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Dandy-Walker malformation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum ORPHA:262767
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C... OMIM:619302
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:612948
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... OMIM:619301
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Corticospinal tract hypoplasia, Pachygyria, Short corpus callosum, Hypopla... ORPHA:255138
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Microcephaly, Cerebral atrophy OMIM:274270
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Microcephaly ORPHA:2512
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Ovarian Dysgenesis 2
Secondary amenorrhea, Abnormality of the uterus, Primary amenorrhea, Premature ovarian insufficie... OMIM:300510
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Microcephaly, Frontal cortical atrophy, Agenesis of corpus callosum, Parietal cortical atrophy OMIM:618766
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Septooptic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Anterior pituitary hypoplasia, Decreased respon... OMIM:182230
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Fu... OMIM:617542
Masa Syndrome
Agenesis of corpus callosum, Microcephaly OMIM:303350
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar... OMIM:300864
Lissencephaly Type Iii And Bone Dysplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Microlissencephaly, Agenesis of cerebel... OMIM:601160
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Osteopenia, Micropenis, Primary amenorrhea, Cryptorch... OMIM:614837
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia OMIM:607196
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Glycine Encephalopathy
Agenesis of corpus callosum OMIM:605899
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly ORPHA:2508
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebral atrophy... OMIM:600118
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly OMIM:614120
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, A... OMIM:225790
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Agenesis of corpus callosum, Microcephaly, Cerebral atrophy OMIM:312170
Aromatase Deficiency
Macroorchidism, postpubertal, Osteoporosis, Ambiguous genitalia, female, Delayed epiphyseal ossif... ORPHA:91
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Cardiomegaly ORPHA:88643
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Corticospinal tract hypoplasia OMIM:307000
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Congenital Neuronal Ceroid Lipofuscinosis
Neuronal loss in the cerebral cortex, Pachygyria, Cerebellar hypoplasia, Cerebral hypoplasia, Age... ORPHA:168486
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Lissencephaly, Agenesis of co... OMIM:614833
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Hypoplasia of the pons, Optic nerve hypoplasia, Dilation of lateral ve... OMIM:618736
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... OMIM:619517
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum OMIM:617127
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
Holoprosencephaly 11
Agenesis of corpus callosum, Microcephaly OMIM:614226
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... ORPHA:1916
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Basal ganglia gliosis, Basal gan... ORPHA:79243
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Partial agenesis of the corpus callosum, Primary microcephaly, Cerebellar vermis hypoplasia, Apla... OMIM:616819
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Hyoplasia of the Leydig cells, Abnormal... ORPHA:755
Microhydranencephaly
Hydranencephaly, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corp... OMIM:605013
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Osteopo... OMIM:235200
Ovarian Dysgenesis 7
Primary amenorrhea, Hypoplasia of the uterus OMIM:618117
Mitochondrial Complex I Deficiency, Nuclear Type 16
Agenesis of corpus callosum, Caudate atrophy OMIM:618238
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Osteoporosis, Hypoplasia of the ovary, Bicornuate uterus, P... OMIM:615300
Estrogen Resistance
Primary amenorrhea, Osteopenia, Hypoplasia of the uterus OMIM:615363
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Pachygyria, Hypopl... ORPHA:86822
Premature Ovarian Failure 7
Secondary amenorrhea, Clitoral hypertrophy, Primary amenorrhea, Premature ovarian insufficiency, ... OMIM:612964
Foxg1 Syndrome
Abnormal corpus callosum morphology, Pachygyria, Progressive microcephaly, Hypoplasia of the corp... ORPHA:561854
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Microlissencephaly, Simplified gyral pattern, Pachygyria... OMIM:616212
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum OMIM:610498
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... OMIM:273250
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Abnormal globus pal... OMIM:618603
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:164180
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:214150
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Primary microcephaly, 4-layered lissencephaly, Cerebral calcification, Hypopl... ORPHA:89844
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Microcephaly OMIM:615286
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Type ... OMIM:615287
Craniosynostosis 6
Dandy-Walker malformation, Abnormal corpus callosum morphology, Agenesis of corpus callosum, Micr... OMIM:616602
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly OMIM:252650
Ovarian Dysgenesis 5
Primary amenorrhea, Hypoplasia of the uterus OMIM:617690
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Partial agenesis of the corpus callosum, Hypoplasia of the pons, Primary microcephaly, Hypoplasia... ORPHA:500144
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Primary microcephaly ORPHA:466688
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Osteoporosis, Hypoplasia of the... ORPHA:432
Baraitser-Winter Syndrome 2
Pachygyria, Secondary microcephaly, Lissencephaly, Agenesis of corpus callosum OMIM:614583
Partial Androgen Insensitivity Syndrome
Hypospadias, Male sexual dysfunction, Aplasia of the uterus, Bifid scrotum, Fused labia majora, A... ORPHA:90797
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Osteopenia OMIM:269920
Attrv30M Amyloidosis
Weight loss, Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Lissencephaly, Hypoplasia of the brainstem, Progressive microcephaly, Agyria, Cerebellar hypoplas... OMIM:615249
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Orofaciodigital Syndrome V
Agenesis of corpus callosum OMIM:174300
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Agenesis of corpus callosum OMIM:600638
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Partial agenesis of the corpus callosum, Microcephaly OMIM:618346
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Microcephaly OMIM:245349
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Reduced bone mineral density, Ambiguous genitalia, male, Micropenis, Abnormal sex de... ORPHA:90796
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Small cerebral cortex, Microcephaly OMIM:617360
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Premature ovarian insufficiency OMIM:619518
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum OMIM:607131
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618577
Maternal Uniparental Disomy Of Chromosome X
Agenesis of corpus callosum, Microcephaly ORPHA:261519
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum ORPHA:380
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Hypoplasia of the pons, Optic ne... ORPHA:370959
Holoprosencephaly, Recurrent Infections, And Monocytosis
Agenesis of corpus callosum, Microcephaly OMIM:610680
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Thickened cortex of long bones, Cardiomegaly, Enamel hypo... OMIM:253250
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Osteopo... ORPHA:465508
Premature Ovarian Failure 18
Secondary amenorrhea, Hypoplasia of the ovary, Premature ovarian insufficiency, Irregular menstru... OMIM:619203
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Osteoporosis, Cardiomegaly, Large for gestational ag... OMIM:239850
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Lissencephaly, Agenesis of corpus callosum, Microcephaly ORPHA:99742
Jaberi-Elahi Syndrome
Agenesis of corpus callosum, Microcephaly OMIM:617988
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:614129
Meckel Syndrome 12
Cerebral hypoplasia, Cerebellar hypoplasia, Agenesis of corpus callosum, Microcephaly OMIM:616258
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Small basal ganglia, Periventricular leukomalacia, Cerebral atrophy, ... OMIM:616900
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Hypoplasia of the olfacto... ORPHA:300570
6Q25 Microdeletion Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:251056
Primary Ciliary Dyskinesia
Situs inversus totalis, Abnormal heart morphology, Double outlet right ventricle, Abnormal sperm ... ORPHA:244
Cutis Laxa, Autosomal Recessive, Type Iib
Agenesis of corpus callosum, Microcephaly OMIM:612940
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2182
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
Corpus Callosum Agenesis-Neuronopathy Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:1496
Lissencephaly, X-Linked, 2
Pachygyria, Lissencephaly, Agenesis of corpus callosum OMIM:300215
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum OMIM:615433
Mullerian Aplasia And Hyperandrogenism
Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:158330
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Small for gestational age, Ab... ORPHA:860
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Cardiomegaly, Cardiomyopathy, Splenomegaly, Inguinal hernia OMIM:256550
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Cardiomegaly OMIM:613576
Frontonasal Dysplasia 1
Pericallosal lipoma, Agenesis of corpus callosum OMIM:136760
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Agenesis of corpus callosum, Cerebellar hypopla... OMIM:618476
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:218350
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopituitarism OMIM:603671
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Urogenital sinus anomaly, Micropenis, Abnormal sex determination, Male infertility, ... ORPHA:251510
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Small for gestational age, C... OMIM:616897
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Premature ovarian insufficiency, Irregular menstruation, Hypoplas... OMIM:110100
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Basal ganglia cysts, Agenesis of corpus callosum OMIM:613623
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Primary amenorrhea, Cryptorch... OMIM:614841
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Partial agenesis of the corpus callosum, Thin corpus callosum OMIM:619653
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Microcephaly OMIM:249630
Estrogen Resistance Syndrome
Osteoporosis, Delayed epiphyseal ossification, Osteopenia, Primary amenorrhea, Enlarged polycysti... ORPHA:785
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly OMIM:616239
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum ORPHA:521308
4Q21 Microdeletion Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:238750
Hydatidiform Mole
Spontaneous abortion, Menometrorrhagia, Enlarged uterus ORPHA:99927
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia OMIM:619074
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Partial agenesis of the corpus callosum, Polymicrogyria ORPHA:101030
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Ovarian Dysgenesis 9
Primary amenorrhea, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the u... OMIM:619665
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Failure to thri... ORPHA:90793
Curry-Jones Syndrome
Hemimegalencephaly, Agenesis of corpus callosum, Polymicrogyria, Megalencephaly OMIM:601707
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Endocardial fibroelastosis, Cardiom... OMIM:212140
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum OMIM:175700
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum OMIM:218000
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Dense calvaria, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Fumarase Deficiency
Hypoplasia of the brainstem, Polymicrogyria, Cerebral atrophy, Open operculum, Agenesis of corpus... OMIM:606812
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:168558
Fanconi Anemia, Complementation Group I
Colpocephaly, Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth horm... OMIM:609053
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Agenesis of corpus callosum, Microcephaly ORPHA:452
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Progressive microceph... ORPHA:488627
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:289548
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Hydrolethalus
Arrhinencephaly, Agenesis of corpus callosum, Anencephaly, Absent septum pellucidum ORPHA:2189
Baraitser-Winter Syndrome 1
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Microcephaly OMIM:243310
Walker-Warburg Syndrome
Abnormal cortical gyration, Dandy-Walker malformation, Absent septum pellucidum, Pachygyria, Macr... ORPHA:899
Weiss-Kruszka Syndrome
Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618619
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum OMIM:147950
Satoyoshi Syndrome
Osteolytic defects of the phalanges of the hand, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:613735
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, ... ORPHA:324410
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Progressive microcephaly, Hypoplasia of the corpus callosum, Dysplast... ORPHA:2524
Agnathia-Otocephaly Complex
Agenesis of corpus callosum OMIM:202650
Vici Syndrome
Hypoplasia of the pons, Cerebral cortical atrophy, Agenesis of corpus callosum, Cerebellar hypopl... ORPHA:1493
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the corpus ca... OMIM:613001
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Osteoporosis, Cardiomegal... ORPHA:363705
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Reduced intrathoracic adipose tissue, Polycystic ovari... OMIM:269700
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Hypoplasia of the brainstem, Progressive microcephaly, Hypoplasia of the co... ORPHA:481152
Cardiac-Urogenital Syndrome
Dextrocardia, Aplasia of the uterus, Ventricular septal defect, Bifid scrotum, Dysplastic tricusp... OMIM:618280
Timothy Syndrome
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Small for gestational age, Right ventricular hypertrophy, Car... ORPHA:555874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Optic nerve hypoplasia, Lisse... OMIM:614643
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum OMIM:109120
Marden-Walker Syndrome
Dandy-Walker malformation, Inferior vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar hy... OMIM:248700
Intellectual Developmental Disorder, Autosomal Dominant 65
Dysgenesis of the hippocampus, Agenesis of corpus callosum OMIM:619320
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Ring Chromosome 22 Syndrome
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly ORPHA:1446
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Microcephaly ORPHA:261144
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Primary amenorrhea, Obesity, Hypoplasia of ... ORPHA:247768
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Aplasia/Hypoplasia of th... ORPHA:3157
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum OMIM:613174
Oculocerebrodental Syndrome
Focal white matter lesions, Dysplastic corpus callosum, Abnormality of thalamus morphology ORPHA:557003
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Microphthalmia With Brain And Digit Anomalies
Agenesis of corpus callosum, Microcephaly, Inferior vermis hypoplasia ORPHA:139471
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:990
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Optic nerve hypoplasia, Cerebellar hypoplasia, Hypoplasia of the corpus cal... OMIM:301056
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Reduced intrathoracic adipose tissue, Polycystic ovaries, Reduced subcutaneous adip... OMIM:608594
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Hypoplasia of the pons, Optic nerve hypoplasia, Cortical dysplas... ORPHA:468631
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Coffin-Siris Syndrome 11
Agenesis of corpus callosum OMIM:618779
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Agenesis of corpus callosum, Microcephaly OMIM:300004
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Hypoplasia of the ... OMIM:206900
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Hypopla... ORPHA:3130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Pachygyria, Hypoplasia of the brainstem, Polymicrogyria, Agyria, Cerebellar hypopl... OMIM:253800
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Anterior pituitary hypoplasia, Agenesis of corpus callosum,... ORPHA:563612
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Cardiomegaly, Hepatomegaly ORPHA:42
Emanuel Syndrome
Dandy-Walker malformation, Abnormal cerebral white matter morphology, Cerebral atrophy, Agenesis ... ORPHA:96170
Chiari Malformation Type Ii
Agenesis of corpus callosum OMIM:207950
Nizon-Isidor Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618872
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Simplified gyral pattern, Pachygyria, Hypoplasia of the corpus callos... OMIM:619179
Radio-Tartaglia Syndrome
Agenesis of corpus callosum, Microcephaly OMIM:619312
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Focal polymicr... OMIM:619103
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cerebral cortical atrophy, Absent septum pellucidum, Subcortical cerebral atrophy, Cerebral corti... ORPHA:96147
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Dilation of lateral ventricles,... OMIM:617296
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:459061
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Eunuchoid habitus, Osteopenia, Loss of truncal subcutaneous adipose tissue, Abnorma... ORPHA:2463
Temtamy Syndrome
Agenesis of corpus callosum OMIM:218340
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Partial absence of cerebellar vermis, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypopla... OMIM:613150
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Impotence OMIM:105210
Desmosterolosis
Abnormal cortical gyration, Absent septum pellucidum, Pachygyria, Macrogyria, Polymicrogyria, Lis... ORPHA:35107
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the corpus callosum, Agenesi... ORPHA:363528
Trichothiodystrophy 4, Nonphotosensitive
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:234050
Kennerknecht Syndrome
Agonadism, Abdominal obesity, Omphalocele, Hypoplasia of the uterus OMIM:600908
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Elevated circulating... OMIM:618419
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Agenesis of corpus callosum, Probst bundles OMIM:612863
Curry-Jones Syndrome
Agenesis of corpus callosum ORPHA:1553
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Flexion contracture of toe, Azoos... OMIM:602782
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Oligomenorrhea, Streak ovary, Polycystic ovaries, Female infertility, Hypop... ORPHA:572333
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agen... ORPHA:314679
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Microcephaly, Basal ganglia cysts, Polymicrogyria, Agenesis of corpus callosum, Intracerebral per... OMIM:608836
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum ORPHA:220497
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:615802
1Q44 Microdeletion Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:238769
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Bohring-Opitz Syndrome
Dandy-Walker malformation, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenes... OMIM:605039
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Omphalocele, Ventricular septal defect, Failure to thrive, Mitral atresia, Double o... OMIM:306955
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... OMIM:601186
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly, Abnormal heart valve morphology, Umbilic... ORPHA:1517
Seckel Syndrome 7
Primary amenorrhea, Hypoplasia of the uterus OMIM:614851
Kapur-Toriello Syndrome
Pachygyria, Dysplastic corpus callosum, Polymicrogyria ORPHA:2328
Arnold-Chiari Malformation Type Ii
Partial agenesis of the corpus callosum, Cortical dysplasia, Polymicrogyria, Agenesis of corpus c... ORPHA:1136
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Cerebellar vermis hypoplasia, Pachygyria, Polymicrogyria, Abnormality of ... ORPHA:157
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Uterus didelphys, Septate vagina, Primary amenorrhea, Aplasia of the vagina OMIM:146255
Fucosidosis
Failure to thrive, Hepatomegaly, Lipoatrophy, Cardiomegaly ORPHA:349
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Hypoplasia of the corpus callosum, Agenesi... OMIM:617260
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of corpus callosum, Agenesis of cerebellar vermis ORPHA:228390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Optic nerve hypoplasia, Pachygyria, Hypoplasia of the brainstem, Hypop... OMIM:236670
Ritscher-Schinzel Syndrome 4
Dandy-Walker malformation, Dysgenesis of the hippocampus, Agenesis of corpus callosum, Cerebellar... OMIM:619435
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Oligomenorrhea, Fused labia majora, Long pe... ORPHA:90794
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Small for gestational age OMIM:613320
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ventricular septal defect, Histiocytoid cardiomyopathy, Chordee, Congenital diaphrag... OMIM:309801
Greenberg Dysplasia
Costal cartilage calcification, Omphalocele, Absent or minimally ossified vertebral bodies, Hepat... OMIM:215140
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb, Hyp... ORPHA:1827
Leigh Syndrome
Neuronal loss in basal ganglia, Focal T2 hyperintense basal ganglia lesion, Encephalomalacia, Abn... ORPHA:506
Donnai-Barrow Syndrome
Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the corpus callosum OMIM:222448
Sotos Syndrome
Cavum septum pellucidum, Partial agenesis of the corpus callosum OMIM:117550
Chromosome 13Q33-Q34 Deletion Syndrome
Dandy-Walker malformation, Agenesis of corpus callosum, Anencephaly, Microcephaly OMIM:619148
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormality of the pituitary gland, Hypoplasia of olfactory tra... ORPHA:314621
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Cavum septum pellucidum, Cerebral atrophy, Dilation of lateral ventricle... ORPHA:464738
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum ORPHA:220493
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Agenesis of corpus callosum OMIM:612582
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Congenital diaphragmatic hernia, Osteoporosis, Card... OMIM:245600
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... ORPHA:544488
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Pachygyria, Cerebellar vermis hypoplasia, Polymicrogyria, Abnormality of ... ORPHA:228308
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Primary microcephaly, Pachygyria, Thick cerebral cortex, Secondary mi... ORPHA:357058
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebellar hypoplasia, Dilation of lateral ventricl... ORPHA:1692
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Agenesis of corpus callosum ORPHA:52055
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:217980
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum ORPHA:77298
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:3320
Amed Syndrome, Digenic
Failure to thrive, Hypoplasia of the uterus OMIM:619151
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Abnormal heart morphology, Uterus didelphys, Vaginal atresia, Septate vagina ORPHA:2237
Pseudotrisomy 13 Syndrome
Microcephaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:264480
Microform Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Microcephaly ORPHA:280200
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Abnormality of the ovary, Bicuspid aortic valve, Failure to thrive in infan... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Abnormality of the ovary, Bicuspid aortic valve, Failure to thrive in infan... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Bicuspid aortic valve, Failure to thrive in infan... ORPHA:99228
Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Bicuspid aortic valve, Failure to thrive in infan... ORPHA:99226
Lethal Congenital Contracture Syndrome 10
Omphalocele, Ventricular septal defect, Cardiomegaly, Overriding aorta OMIM:617022
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Polymicrogyria, Porencephalic cyst, Fusion of the left and right thalami, Agenes... OMIM:156810
Opitz Gbbb Syndrome, Type I
Agenesis of corpus callosum OMIM:300000
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Agenesis of corpus callosum OMIM:309520
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Arthrogryposis multiplex congenita, Inguinal hernia, Multiple joint c... OMIM:618143
Monosomy 13Q34
Agenesis of corpus callosum, Microcephaly ORPHA:96168
Stromme Syndrome
Optic nerve hypoplasia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Agenesis of corpus c... OMIM:243605
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Hepatosple... ORPHA:79330
Exstrophy-Epispadias Complex
Omphalocele, Male sexual dysfunction, Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Abnor... ORPHA:322
Tetraamelia-Multiple Malformations Syndrome
Agenesis of corpus callosum, Septo-optic dysplasia ORPHA:3301
Vici Syndrome
Schizencephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly OMIM:242840
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Bifid uterus ORPHA:2736
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Cardiomegaly, Inguinal hernia, Oste... OMIM:252500
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:1812
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Orofaciodigital Syndrome Type 5
Agenesis of corpus callosum, Microcephaly ORPHA:2919
Kleefstra Syndrome
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly ORPHA:261494
Mosaic Variegated Aneuploidy Syndrome 1
Dandy-Walker malformation, Hypodysplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral ... OMIM:257300
16P13.11 Microdeletion Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:261236
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Melas
Basal ganglia calcification, Aplasia/Hypoplasia of the cerebral white matter, Hypoplasia of the c... ORPHA:550
Pyruvate Carboxylase Deficiency
Periventricular cysts, Cerebral white matter atrophy, Basal ganglia gliosis, Increased caudate la... ORPHA:3008
Trisomy 1Q
Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:261344
8P Inverted Duplication/Deletion Syndrome
Dandy-Walker malformation, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:96092
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Precoc... ORPHA:96191
Fucosidosis
Hepatomegaly, Cardiomegaly, Hernia, Splenomegaly, Flexion contracture OMIM:230000
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly OMIM:618569
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:618651
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Arthrogryposis multiplex congenita, Splenomegaly, Hepatosplenomegaly,... OMIM:608013
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Elevated circulating thyroid-stimulating hormone concentration, Agenesis... ORPHA:209905
Xp21 Deletion Syndrome
Agenesis of corpus callosum ORPHA:261476
Genitopatellar Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:85201
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Partial agenesis of the corpus callosum, Hypoplasia of the pons, Thin corpus callosum, Cerebellar... OMIM:619512
21Q22.11Q22.12 Microdeletion Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:261323
Apert Syndrome
Agenesis of corpus callosum, Megalencephaly, Absent septum pellucidum, Abnormal morphology of the... OMIM:101200
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly ORPHA:847
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:609441
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Absent septum pellucidum, Subcortical cerebral atrophy, Cerebral atrophy,... ORPHA:2396
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Apert Syndrome
Agenesis of corpus callosum, Absent septum pellucidum ORPHA:87
Thakker-Donnai Syndrome
Agenesis of corpus callosum ORPHA:1780