Gene Summary

Name:
heat shock factor 1
Synonyms:
heat shock transcription factor 1

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
preweaning lethality, incomplete penetrance Hsf1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal embryo size Hsf1tm1.1(KOMP)Vlcg HOM E18.5 0.00
decreased circulating glucose level Hsf1tm1.1(KOMP)Vlcg HET   Early adult 5.42×10-05
abnormal sleep behavior Hsf1tm1.1(KOMP)Vlcg HET Early adult 1.88×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

46 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Eye Morphology

Images Slit Lamp

4 Images

Sleep Wake

Wake state (bmp file)

11 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Hsf1 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 Hsf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Polymicrog... OMIM:604213
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Unilateral Hemispheric Polymicrogyria
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum OMIM:300864
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent meningococ... OMIM:614372
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:171703
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal cerebral morphology, Simplif... ORPHA:329228
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... ORPHA:399805
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Short stature, Failure to thrive, Recurrent otitis media, Recurre... OMIM:616022
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Megalencephaly, Ventriculomegaly OMIM:615938
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus... OMIM:600348
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Ventriculomegaly, Hypoplasia of the corpus callo... OMIM:608716
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... OMIM:619517
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Failure to thrive, Recu... OMIM:613501
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria ORPHA:250972
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Cerebellar gliosis, Gliosis, Bas... ORPHA:79243
Alg2-Cdg
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... ORPHA:79326
Martsolf Syndrome 2
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Obesity, Recurrent re... OMIM:300310
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Lissencephaly 3
Lissencephaly, Ventriculomegaly, Pachygyria, Polymicrogyria, Agyria, Hypoplasia of the corpus cal... OMIM:611603
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Ventriculomegaly, Hypoplastic hippocampus, Cerebral atro... ORPHA:85179
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Dilation of lateral ventricles, Agenesis of corpus callosum, Microcephaly OMIM:618736
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Agenesis... OMIM:610031
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy ORPHA:306669
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections, Growth delay OMIM:615468
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Dilation of lateral ventricles,... OMIM:617296
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Microphthalmia-Brain Atrophy Syndrome
Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy ORPHA:77299
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Narcolepsy 7
Narcolepsy, Type II diabetes mellitus OMIM:614250
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesis of... OMIM:614039
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... ORPHA:101029
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Lissencephaly 4
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Simplified gyral pattern OMIM:614019
Mental Retardation, Autosomal Dominant 48
Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia of the corpu... OMIM:617751
Holoprosencephaly 5
Central diabetes insipidus, Dilation of lateral ventricles, Hydrocephalus, Microcephaly OMIM:609637
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts OMIM:600721
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Dilation of lateral ventricles, Microcephaly OMIM:619278
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Congenital Hydrocephalus
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Hydrocephalus,... ORPHA:2185
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Gliosis, Lewy bodies, Dilation of lateral ventricles, Cerebral cortical ... OMIM:607485
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... ORPHA:544488
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Leukoencephalopathy, Abnormal cerebral white matter morphology, Bilateral gener... ORPHA:178469
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Ventriculomegaly, Abnormality of the ... ORPHA:255182
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebral white matter hypoplasia, Simplified gyral pattern, Primary microcephaly, Hypoplasia of t... ORPHA:284417
Focal Cortical Dysplasia, Type Ii
Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, C... OMIM:607341
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Ventriculomegaly, Pro... ORPHA:488627
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Dandy-Walker malformation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventri... ORPHA:262767
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Ventriculomegaly, Agenesis of corpus callosum, Micr... OMIM:617090
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypo... ORPHA:208447
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Cerebral white matter atrophy, Ventriculomegaly, Hydrocephalus, Perivent... ORPHA:500055
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly OMIM:303350
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
X-Linked Intellectual Disability, Wilson Type
Dilation of lateral ventricles, Microcephaly ORPHA:85290
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypoplasia of... OMIM:618606
Glutamine Deficiency, Congenital
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Subependymal cysts OMIM:610015
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Pachygyria, Agyria, Dilation ... ORPHA:2148
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly OMIM:617669
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Dandy-Walker malformation, Colpocephaly, Abnormal corpus callosum morpho... ORPHA:397715
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Cavum septum pellucidum, Cerebral atrophy, Dilation of lateral ventricle... ORPHA:464738
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401830
Combined Oxidative Phosphorylation Defect Type 39
Deep white matter hypodensities, Abnormal corpus callosum morphology, Abnormal cerebral white mat... ORPHA:565624
Lissencephaly, X-Linked, 1
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Agyria OMIM:300067
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
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
Malan Overgrowth Syndrome
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:420179
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Micro... ORPHA:2512
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401820
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Failure to thrive, Decreased circulating anti... OMIM:601495
Slc35A2-Cdg
Dandy-Walker malformation, Cerebral white matter atrophy, Abnormal cerebral white matter morpholo... ORPHA:356961
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the corpus ca... OMIM:618492
Cach Syndrome
Dysgyria, Cerebral atrophy, Dilation of lateral ventricles, T2 hypointense thalamus, Microcephaly ORPHA:135
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Dilation of lateral ventricles, Dilated fourth ventricle, Microcephaly ORPHA:3078
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly OMIM:304100
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... ORPHA:319552
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cyst, Dandy-Walk... OMIM:304050
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebral white matter morphology, Cerebral atrophy ORPHA:314404
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callo... OMIM:307000
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Congenital Neuronal Ceroid Lipofuscinosis
Gliosis, Neuronal loss in the cerebral cortex, Ventriculomegaly, Pachygyria, Cerebral hypoplasia,... ORPHA:168486
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... OMIM:209920
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum, Probst bundles OMIM:612863
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... OMIM:617542
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum... ORPHA:1528
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus OMIM:619575
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum OMIM:211200
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus c... OMIM:225790
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Intrauterine growth retardation, Small for gestational ag... ORPHA:231144
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Primary microcephaly, Periventricular l... ORPHA:293725
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... ORPHA:2822
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:618914
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly OMIM:252650
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral white matter hypoplasia, Dilated fourth ventricle, Leukoencephalopathy, Ventriculomegaly... ORPHA:572798
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum, Ventriculomegaly OMIM:610498
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Corticospinal tract hypoplasia, Ventriculomegaly, Pachygyria, Short corpus... ORPHA:255138
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Ventriculomegaly, Small basal ganglia, Periventricular leukomalacia, ... OMIM:616900
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level,... ORPHA:169079
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Simplified g... OMIM:619302
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly OMIM:619466
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Dec... ORPHA:276
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Decreased ... OMIM:240500
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:243700
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Lissencephaly, Agenesis of corpus callosum, Microcephaly OMIM:614833
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:606843
Cog5-Cdg
Dilation of lateral ventricles, Cerebral white matter atrophy, Microcephaly, Diffuse cerebral atr... ORPHA:263487
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Dilation of lateral ventricles, Abnormal corpus callosum morphology, Abn... ORPHA:457279
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Dila... ORPHA:434179
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Lissencephaly OMIM:615219
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent prot... ORPHA:572
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Decreased ... OMIM:607594
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Ventriculomegaly, Progressive microcephal... ORPHA:2524
Lissencephaly, X-Linked, 2
Gliosis, Ventriculomegaly, Pachygyria, Lissencephaly, Agenesis of corpus callosum OMIM:300215
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l... OMIM:193670
Lissencephaly 7 With Cerebellar Hypoplasia
Lissencephaly, Agenesis of corpus callosum, Agyria, Microcephaly OMIM:616342
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis ORPHA:2182
Aicardi-Goutieres Syndrome 9
Diffuse leukoencephalopathy, Cerebral calcification, Basal ganglia calcification, Dilation of lat... OMIM:619487
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Abnormal globus pallidus morphology, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesi... OMIM:618603
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Craniotelencephalic Dysplasia
Arrhinencephaly, Lissencephaly, Agenesis of corpus callosum, Absent septum pellucidum OMIM:218670
Weiss-Kruszka Syndrome
Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Mosaic Trisomy 1
Dilation of lateral ventricles, Polymicrogyria, Agenesis of corpus callosum ORPHA:1692
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Failur... ORPHA:83471
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hydrocephalus, Type II lissencephaly, C... OMIM:615287
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... OMIM:307200
Distal Monosomy 10Q
Cavum septum pellucidum, Dilation of lateral ventricles, Microcephaly ORPHA:96148
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Baraitser-Winter Syndrome 2
Ventriculomegaly, Pachygyria, Secondary microcephaly, Lissencephaly, Agenesis of corpus callosum OMIM:614583
Septooptic Dysplasia
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Agenesis of... OMIM:182230
Microhydranencephaly
Hydranencephaly, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Microcephaly OMIM:605013
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Simplified gyral pattern, Ventriculomegaly, Pachygyria, Hypoplasia of... OMIM:619179
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Small pituitary gland, Ventric... OMIM:619479
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Kohlschutter-Tonz Syndrome-Like
Dilation of lateral ventricles, Secondary microcephaly, Microcephaly, Ventriculomegaly OMIM:619229
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Short stature, Premature ovarian insufficiency OMIM:619518
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... ORPHA:331235
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... OMIM:228300
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Failure to thrive, Recurrent otitis media, Recurrent pneu... OMIM:617475
Immunodeficiency 36
Recurrent bacterial infections, Growth delay, Short stature, Decreased circulating antibody level... OMIM:616005
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Bainbridge-Ropers Syndrome
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly OMIM:615485
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... ORPHA:183675
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Hydrocephalus OMIM:612301
Weaver Syndrome
Dilation of lateral ventricles, Absent septum pellucidum OMIM:277590
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Abnormal cerebral white matter morphology, Abnormal periventricu... OMIM:618476
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Decreased response to growth hormone stimulation test, Ag... OMIM:609053
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Curry-Jones Syndrome
Megalencephaly, Hemimegalencephaly, Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum OMIM:601707
Oculocerebrodental Syndrome
Focal white matter lesions, Dysplastic corpus callosum, Abnormality of thalamus morphology ORPHA:557003
Corpus Callosum Agenesis-Neuronopathy Syndrome
Agenesis of corpus callosum, Microcephaly, Aqueductal stenosis ORPHA:1496
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Amish Lethal Microcephaly
Lissencephaly, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly ORPHA:99742
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abno... ORPHA:70578
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of ... ORPHA:178320
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Partial agenesis of the corpus callosum, Ventriculomegaly, Primary microcephaly, Secondary microc... ORPHA:500144
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Dec... ORPHA:331206
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly ORPHA:452
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Autosomal Recessive Cutis Laxa Type 2A
Dandy-Walker malformation, Dysplastic corpus callosum, Dilated fourth ventricle, Primary microcep... ORPHA:357058
Holoprosencephaly 11
Agenesis of corpus callosum, Microcephaly OMIM:614226
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Failure to thrive in infancy, Severe varicella zoster infection, ... OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Failure to thrive, Decre... OMIM:308230
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Dilation of lateral ventricles, Decreased response to growth hormo... ORPHA:177907
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly OMIM:613735
Lissencephaly Type Iii And Bone Dysplasia
Agenesis of corpus callosum, Microlissencephaly OMIM:601160
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Failure ... OMIM:603554
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Dilation of lateral ventricles, Pachygyria OMIM:263520
Kapur-Toriello Syndrome
Pachygyria, Dysplastic corpus callosum, Polymicrogyria ORPHA:2328
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... ORPHA:169090
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Postnatal growth retardation, Large placent... ORPHA:254534
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corp... ORPHA:314679
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Recurrent otitis media, Abnormal sperm motility, Female infer... ORPHA:244
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... OMIM:607676
Curry-Jones Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:1553
Vici Syndrome
Recurrent bacterial infections, Growth delay, Failure to thrive, Recurrent fungal infections, Dec... OMIM:242840
Congenital Disorder Of Glycosylation, Type Iim
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly, Cerebral atrophy OMIM:300896
Spondyloenchondrodysplasia
Cerebral calcification, Ventriculomegaly, Abnormal lateral ventricle morphology, Abnormal periven... ORPHA:1855
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Severe cytomegalovirus infection... OMIM:300291
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Failure to thrive, Recurrent ... OMIM:613179
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Focal polymicr... OMIM:619103
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive ventriculomegaly, Abnormal cerebral cortex morphology, Si... ORPHA:500150
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Decreased circulating total IgA, Decreased specific antibody resp... ORPHA:221139
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency 23
Severe varicella zoster infection, Failure to thrive, Increased circulating IgG level, Chronic mu... OMIM:615816
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Cachexia, Recurrent lower respiratory tract infections ORPHA:60033
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent ear ... ORPHA:486
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious encephalitis... ORPHA:540
Pgm3-Cdg
Recurrent bacterial infections, Sepsis, Short stature, Increased circulating IgA level, Recurrent... ORPHA:443811
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Intrauterine growth retardation, Short stature, Recurrent... OMIM:617053
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Rec... OMIM:102700
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:309801
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
16Q24.3 Microdeletion Syndrome
Colpocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:261250
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Proportionate short stature, Intrauterine growth retardation, Bir... OMIM:244460
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Severe intrauterine growth retardation, Postnatal growth retardation OMIM:241410
Aromatase Deficiency
Growth delay, Eunuchoid habitus, Female infertility, Male infertility, Primary amenorrhea, Hyperg... ORPHA:91
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... OMIM:610984
Macrophage Activation Syndrome
Increased circulating interleukin 6, Increased serum interferon-gamma level, Abnormality of tumor... ORPHA:158061
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency OMIM:110100
Arnold-Chiari Malformation Type Ii
Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Cortica... ORPHA:1136
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly OMIM:618569
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Growth delay, Failure to thrive, Recurrent respiratory in... OMIM:612541
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... OMIM:233710
Choreoacanthocytosis
Caudate atrophy, Abnormal putamen morphology, Frontal cortical atrophy, Hypoplastic hippocampus, ... ORPHA:2388
Chromosome 1P36 Deletion Syndrome, Distal
Leukoencephalopathy, Microcephaly, Pachygyria, Polymicrogyria, Hydrocephalus, Dilation of lateral... OMIM:607872
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Severe short stature, Growth delay, Failure to thrive ORPHA:2176
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... OMIM:233690
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Increased circulati... ORPHA:48435
Holoprosencephaly 13, X-Linked
Colpocephaly, Microcephaly, Agenesis of corpus callosum, Septo-optic dysplasia OMIM:301043
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Absent septum pellucidum, Polymicrogyria, Secondary mic... OMIM:618820
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent gram-negative bact... OMIM:116920
Sweet Syndrome
Increased circulating interleukin 6, Recurrent infections, Abnormality of tumor necrosis factor s... ORPHA:3243