Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

apoptotic peptidase activating factor 1
6230400I06Rik,  Apaf1l

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Apaf1 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 Apaf1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Axonal degeneration, ... OMIM:602433
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebral c... ORPHA:1931
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Megalencephaly, Ventriculomegaly, Macrocephaly, Polymicrogyria, Hydrocephalus, Postaxial hand pol... OMIM:615938
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Facial cleft, Neural tube defect OMIM:600776
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brains... OMIM:619072
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Ventriculomegaly, Macrocephaly, Hydrocephalus, Polymicrogyria, Postaxial hand... OMIM:615937
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Ventriculomegaly, Ataxia,... OMIM:618709
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Hydrocephalus, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... ORPHA:2703
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Facial cleft, Holoprosencephaly, Absent septum pellucidum, Anterior encephalocele, Scoliosis OMIM:601357
Lissencephaly 5
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopathy, Cerebellar v... OMIM:615191
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Micrognathia, Midface retrusion, Brachycephaly, Ventriculomegaly, Unilambdoid syno... OMIM:618577
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral white matter morphology, Occipi... ORPHA:352682
Megalencephaly, Autosomal Dominant
Macrocephaly, Hydrocephalus, Megalencephaly OMIM:155350
Pentasomy X
Plagiocephaly, Micrognathia, Small hand, Patent ductus arteriosus, Short foot, Hip dysplasia, Cam... ORPHA:11
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:602099
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Cubitus valgus, Polymicrogyria, Cerebellar hypoplasia, Abnormality... ORPHA:300570
Neural Tube Defects, Susceptibility To
Anencephaly, Myelomeningocele, Asymmetry of spinal facet joints, Absence of the sacrum, Sacral di... OMIM:182940
Congenital Hydrocephalus
Abnormal cortical gyration, Optic atrophy, Small cerebral cortex, Colpocephaly, Posteriorly rotat... ORPHA:2185
Craniosynostosis 6
Dandy-Walker malformation, Plagiocephaly, Cerebellar atrophy, Brachycephaly, Craniosynostosis, Ab... OMIM:616602
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Cerebellar malformation, Hydrocephalus, Occipital encephalocele, Type II lissen... ORPHA:324416
Mental Retardation, Autosomal Dominant 13
Plagiocephaly, Small hand, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypopl... OMIM:614563
Periventricular Nodular Heterotopia 7
Optic atrophy, Micrognathia, Cleft palate, Periventricular nodular heterotopia, Hearing impairmen... OMIM:617201
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Severe sensorineural hearing... OMIM:604213
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy OMIM:616437
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Micrognathia, Frontal bossing, Orbital craniosynostosis, Hydrocephalus... ORPHA:1538
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells OMIM:271150
Craniotelencephalic Dysplasia
Frontal encephalocele, Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Cerebellar hypoplas... ORPHA:1528
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Adducted thumb, Talipes equinovarus, Hand clenching, Cerebellar dysplasia, Ventric... OMIM:617822
Mental Retardation, Autosomal Dominant 36
Plagiocephaly, Deviation of the 5th finger, Ventriculomegaly, Hydrocephalus, Broad hallux, Promin... OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Optic atrophy, Retinal dysplasia, Hypoplasia of the pons, Ventriculome... OMIM:613154
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Diffuse cerebral atrophy, Microcephaly ORPHA:2898
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Brachycephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydroc... ORPHA:272
Genu varum, Megalencephaly, Bowing of the legs, Rhizomelia, Frontal bossing, Flared metaphysis, H... OMIM:100800
Developmental And Epileptic Encephalopathy 65
Plagiocephaly, Cerebellar atrophy, Ventriculomegaly, Cerebral atrophy, Microcephaly OMIM:618008
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Plagiocephaly, Ventriculomegaly, Hypoplasia of the brainstem, Macrocephaly, Hypoplasia of the cor... OMIM:618354
Sporadic Fetal Brain Disruption Sequence
Microcephaly, Prominent occiput, Plagiocephaly, Cerebral cortical atrophy ORPHA:1665
Coasy Protein-Associated Neurodegeneration
Abnormal corpus striatum morphology, Abnormal globus pallidus morphology, Abnormal caudate nucleu... ORPHA:397725
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Gray matter hetero... OMIM:600348
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Hypoplasia of the olfactory bulb, Abnormality of the basal ganglia OMIM:618646
6Q25 Microdeletion Syndrome
Plagiocephaly, Micrognathia, Rocker bottom foot, Ventriculomegaly, Camptodactyly of finger, Clino... ORPHA:251056
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Facial cleft, Wide mouth, Congenital hip dislocation, Finger syndactyl... ORPHA:1647
Microretrognathia, Polydactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Short phala... ORPHA:59315
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly, Macrocephaly, Agenesis of corpus callosum, Chiari type I malformation ORPHA:459074
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells OMIM:253550
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Joint contracture of the hand, Hydrocephalus, Broad hallux, Delayed cranial... OMIM:175700
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
3P25.3 Microdeletion Syndrome
Micrognathia, Postaxial polydactyly, Tapered finger, Cerebral white matter atrophy, Brachycephaly... ORPHA:435638
Oculomaxillofacial Dysostosis
Micrognathia, Abnormality of the humerus, Facial cleft, Adducted thumb, Upslanted palpebral fissu... ORPHA:1794
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Tapered finger, Brachycephaly, Mandibular prognathia, Small hand, Thick corpus cal... OMIM:618672
Lissencephaly 1
Subcortical band heterotopia, Ventriculomegaly, Pachygyria, Agyria, Abnormal cerebral white matte... OMIM:607432
Craniofrontonasal Dysplasia
Plagiocephaly, Broad hallux phalanx, Brachycephaly, Craniosynostosis, Congenital pseudoarthrosis ... ORPHA:1520
Monomelic Amyotrophy
Degeneration of anterior horn cells ORPHA:65684
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morphology, Hypoplasia of the pons... ORPHA:280195
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Cerebellar dysplasia, Acromesomelia, Ventriculomegaly, Short 5th finger, Patent du... ORPHA:500159
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... OMIM:220200
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Spina bifida, Spina bifida occulta, Scoliosis, Microcephaly ORPHA:64754
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Muenke Syndrome
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Capitate-hamate fusion, Brachyc... OMIM:602849
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... OMIM:617542
Craniotelencephalic Dysplasia
Frontal encephalocele, Arrhinencephaly, Absent septum pellucidum, Cerebellar hypoplasia, Lissence... OMIM:218670
Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant
Dandy-Walker malformation, Atretic occipital cephalocele OMIM:609222
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Ventriculomegaly, Hypoplasia o... OMIM:618603
Cerebral dysmyelination, Periventricular heterotopia, Simplified gyral pattern, Ventriculomegaly,... ORPHA:1083
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly, Cerebellar atrophy, Talipes equinovarus, Microcephaly, Abnormal cerebral white mat... OMIM:617481
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Dilation of lateral ventricles, Spina bifida occulta, Scoliosis, Agene... OMIM:618736
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Tethered cord, Hypoplasia of the corpus callosum, Spina bifida occulta, Leukoencephalopathy OMIM:615281
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Micrognathia, Hydranencephaly, Abnormality of the diencephalon, Adducted thumb, Holoprosencephaly... ORPHA:2570
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Wide nasal bridge, Hyperlordosis, Scoliosis, Anteverted nares, Short ... ORPHA:1797
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Encephalocele, Aplasia/Hypoplasia of the corpus callosum ORPHA:217
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Umbilical hernia, Broad thumb, Craniosynostosis, Finger syn... ORPHA:380
Anophthalmia Plus Syndrome
Facial cleft, Spina bifida, Vertebral segmentation defect ORPHA:1104
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Chiari malformation, Hydrocephalus ORPHA:261102
Holoprosencephaly 5
High palate, Depressed nasal bridge, Lobar holoprosencephaly, Holoprosencephaly, Macrotia, Deep p... OMIM:609637
Alexander Disease
Ataxia, Hydrocephalus, Increased CSF protein OMIM:203450
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Midface retrusion, Microcephaly OMIM:618731
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge OMIM:209970
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Brachycephaly, Ventriculomegaly, Alobar holoprosencephaly, Dolichocephaly, Agenesi... OMIM:615433
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251912
Summitt Syndrome
Plagiocephaly, Craniosynostosis, Finger syndactyly, Genu valgum, Macrocephaly, Camptodactyly of f... ORPHA:3210
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Abnormal lower motor neur... OMIM:105550
Bresek Syndrome
Plagiocephaly, Optic nerve hypoplasia, Neonatal death, Hydrocephalus, Postaxial hand polydactyly,... ORPHA:85284
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification, Cerebellar calcifications OMIM:618824
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Dysplastic corpus callosum, Short 5th finger, Focal white matter lesions, ... ORPHA:557003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Microphthalmia, Hypoplasia of the pons, Lissencephaly, Ventriculomegal... OMIM:613153
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, D... OMIM:220220
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Prominent nose, Optic atrophy, Short philtrum, Macrotia, Thick upper l... OMIM:617281
Spinal Muscular Atrophy, Type Iii
Degeneration of anterior horn cells OMIM:253400
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:205100
Atypical Teratoid Rhabdoid Tumor
Macrocephaly, Hydrocephalus, Cerebral calcification ORPHA:99966
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:521390
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Leukoencephalopathy, Basal ganglia calcification, T2 hypointense thalamus, Hypop... OMIM:618193
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hydrocephalus, Flexion contracture, Cerebral atrophy, Microcephaly OMIM:300884
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:615911
Lissencephaly 3
Ventriculomegaly, Ataxia, Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, ... OMIM:611603
Carey-Fineman-Ziter Syndrome
Plagiocephaly, Micrognathia, Talipes equinovarus, Tapered finger, Pectoralis hypoplasia, Ventricu... OMIM:254940
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... OMIM:619528
Craniofacial Dyssynostosis
Micrognathia, Craniosynostosis, Patent ductus arteriosus, Frontal bossing, Macrocephaly, Hydrocep... ORPHA:1516
Brain Small Vessel Disease 3
Cerebral hemorrhage, Cerebral atrophy, Leukoencephalopathy, Cerebral calcification OMIM:618360
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Pachygyria, Agyria, Gray matter heterotopia, Enlarged sylvian cistern ORPHA:1084
Lissencephaly 8
Ventriculomegaly, Hypoplasia of the corpus callosum, Polymicrogyria, Occipital encephalocele, Lis... OMIM:617255
Fried Syndrome
Gait disturbance, Abnormality of the optic nerve, High palate, Short philtrum, Macrotia, Hearing ... ORPHA:85335
Nail-Patella Syndrome
Cleft palate, Talipes equinovarus, Lester's sign, Elongated radius, Limited elbow extension, Bice... OMIM:161200
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus ORPHA:945
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyelashes, Facial cleft, Ptosis, Epicanthus, Sparse eyebrow, Pericallosal lipoma, Brachyda... ORPHA:306542
Subependymal Nodular Heterotopia
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Nasofrontal encephalocele... ORPHA:101030
Oculoauricular Syndrome
Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Iris coloboma, Macular hypoplasia, P... OMIM:612109
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Micrognathia, Ventriculomegaly, Cerebellar hypoplasia, Prominent metopic ridge, Cl... OMIM:619188
Craniodigital-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Masa Syndrome
Adducted thumb, Talipes equinovarus, Ventriculomegaly, Macrocephaly, Hydrocephalus, Agenesis of c... OMIM:303350
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Pachygyria, Hypoplasia of the corpus callosum, Agyria, Gray matter ... OMIM:615411
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Microcephaly OMIM:101805
Lissencephaly, X-Linked, 1
Death in infancy, Ataxia, Micropenis, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly,... OMIM:300067
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ... ORPHA:370959
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Hydrocephalus, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Spondylosis, Cervical
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly, Tapered finger, Syndactyly, Macrocephaly, Clinodactyly of the 5th finger OMIM:618725
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis OMIM:213010
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Distal Monosomy 13Q
Anencephaly, Holoprosencephaly, Encephalocele, Abnormal form of the vertebral bodies, Aplasia/Hyp... ORPHA:1590
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Simplified gyral pattern, Hyperactivity, Periventricular white matter hyperintensi... OMIM:619470
Malan Overgrowth Syndrome
Plagiocephaly, Ventriculomegaly, Frontal bossing, Scaphocephaly, Hypoplasia of the brainstem, Sle... ORPHA:420179
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Tapered finger, Small hand, Sandal gap, Short foot, Clinodactyly, Microcephaly OMIM:618089
Pettigrew Syndrome
Dandy-Walker malformation, Prominent nose, High-frequency hearing impairment, Wide mouth, Cerebra... OMIM:304340
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar... OMIM:614963
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Cleft palate, Oligodontia, Cubitus valgus, Delayed eruption of teeth, Iris co... ORPHA:2712
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Abnormal globus pallidus morphology, ... ORPHA:31825
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Tapered finger, Brachycephaly, Ventriculomegaly, Cerebellar hypoplasia, Abnormal c... ORPHA:261652
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Thoracolumbar scoliosis, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Micrognathia, Chiari malformation, Large fontanelles, Brachycephaly, Bowing of th... ORPHA:171839
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Micropenis, Bilateral cryptorchidism, Polymicrogyria, Anteverted nares, Dilation of l... OMIM:300982
Coffin-Siris Syndrome 6
Plagiocephaly, Micrognathia, Wormian bones, Frontal bossing, Periventricular leukomalacia, Retrog... OMIM:617808
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Anencephaly, Agenesis of cerebellar vermis, Encephalocele... OMIM:611134
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Congenital stationary night blindness, Azoospermia, In... ORPHA:8
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology OMIM:613724
Acrofacial Dysostosis, Catania Type
Carious teeth, Facial cleft, Hypoplasia of the zygomatic bone, Small hand, Downslanted palpebral ... ORPHA:1786
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, O... OMIM:615287
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Micrognathia, Talipes equinovarus, Hand clenching, Congenital hip dislocation, Ventriculomegaly, ... OMIM:618291
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Duplication Of The Pituitary Gland
Brachyturricephaly, Abnormal hypothalamus morphology, Supernumerary tooth, Abnormality of the pit... ORPHA:314621
Young Syndrome
Obstructive azoospermia, Recurrent bronchitis, Decreased fertility ORPHA:3471
Temple Syndrome
Micrognathia, Cleft palate, High palate, Short philtrum, Depressed nasal bridge, Wide nose, Bifid... OMIM:616222
Muenke Syndrome
Tarsal synostosis, Plagiocephaly, Cone-shaped epiphysis, Brachycephaly, Carpal synostosis, Short ... ORPHA:53271
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Hypertension, Moyamoya phenomenon, Azoospermia, Flar... ORPHA:280679
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Moyamoya phenomenon, Azoospermia, Abnormal cerebral ... OMIM:300845
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Encephalocele, Platyspondyly, Kyphosis, Ventriculomegaly, Hydrocephalus ORPHA:93274
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Holoprosencephaly, Craniosynostosis, Microcephaly, Short distal pha... ORPHA:2163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia, Ventriculomegaly, Hydrocephalus, Type II lissencephaly OMIM:614830
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Leukoencephalopathy, Recurrent subcor... ORPHA:136
Reversible Cerebral Vasoconstriction Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Leukoencephalopathy, Intraventricular hemorr... ORPHA:284388
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Plagiocephaly, Brachycephaly, Cerebral white matter atrophy, Small hand,... ORPHA:500055
Raine Syndrome
Plagiocephaly, Brachyturricephaly, Micrognathia, Large fontanelles, Brachycephaly, Mandibular pro... OMIM:259775
Walker-Warburg Syndrome
Abnormality of neuronal migration, Cleft palate, Retinal dysplasia, Iris coloboma, Polymicrogyria... ORPHA:899
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Microcephaly ORPHA:63862
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hearing impairment, Periodontitis, Gingivitis, Hydrocephalus, Abnormality of the dentition ORPHA:1008
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Micrognathia, Postaxial polydactyly, Brachycephaly, Broad distal phalanx of f... ORPHA:404440
Kleefstra Syndrome 2
Plagiocephaly, Midface retrusion, Microcephaly OMIM:617768
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 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Optic atrophy, Colpocephaly, Posteriorly rotated ears, Simplified gy... OMIM:615219
Hydrolethalus Syndrome 2
Micrognathia, Cleft palate, Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Ventriculom... OMIM:614120
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Cortical dysplasia, Mi... OMIM:615412
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Recurrent corneal erosions, Craniosynostosis, Elbow ankylosis, Hydrocephalus OMIM:148800
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Myelomeningocele, Hemivertebrae, Block ver... OMIM:613686
Caudal Duplication
Myelomeningocele, Abnormal sacrum morphology, Spinal cord lesion, Bifid sacrum, Spina bifida, Ver... ORPHA:1756
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... ORPHA:171844
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Spina bifida occulta, Depressed nasal bridge ORPHA:2840
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Tapered finger, Brachycephaly, Global brain atrophy, Frontal bossing, Cerebral atr... OMIM:616801
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Cleft palate, Bifid uvula, Bicornuate uterus, Hydrocephalus OMIM:258320
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Dystonia 30
Hypothalamic hamartoma, Globus pallidus hypointensity on susceptibility-weighted imaging, Diffuse... OMIM:619291
Gluteal Muscles, Absence Of
Spina bifida occulta, Scoliosis OMIM:231970
Fg Syndrome Type 1
Plagiocephaly, Micrognathia, Optic nerve hypoplasia, Broad toe, Craniosynostosis, Ventriculomegal... ORPHA:93932
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Mosaic Trisomy 9
Cleft palate, Talipes equinovarus, Patent ductus arteriosus, Camptodactyly of finger, Finger clin... ORPHA:99776
Temtamy Syndrome
Micrognathia, Chorioretinal coloboma, Short 2nd toe, Talipes equinovarus, Long philtrum, Ectopia ... OMIM:218340
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Encephalocele, Aplasia/Hypoplasia of the cerebellum,... ORPHA:1908
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Dandy-Walker malformation, Anencephaly OMIM:603194
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at S1, Spina bifida occulta at L5 OMIM:102510
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Talipes equinovarus, Tapered finger, Hypoplasia of the pons, Patent ductus arterio... OMIM:619293
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Metaphyseal dysplasia, Lens coloboma, Lens subluxation, Microspherophakia, R... OMIM:157151
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae OMIM:184400
48,Xxyy Syndrome
Carious teeth, Thick lower lip vermilion, Infertility, Cleft palate, Open bite, Azoospermia, Broa... ORPHA:10
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Peters anomaly, Polymicrogyria, Agyria, Hydrocephalus, Remnants of the hyaloid... OMIM:614643
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Micrognathia, Hyperextensibility of the finger joints, Rhizomelia, Clinodactyly of... OMIM:618821
Cebalid Syndrome
Plagiocephaly, Brachycephaly, Platystencephaly, Polymicrogyria, Turricephaly, Midface retrusion, ... OMIM:618774
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus OMIM:123155
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Kniest Dysplasia
Rhegmatogenous retinal detachment, Cleft palate, Pierre-Robin sequence, Abnormal bone structure, ... ORPHA:485
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Mycophenolate Mofetil Embryopathy
Micrognathia, Chorioretinal coloboma, Microphthalmia, Facial cleft, Iris coloboma, Foot polydacty... ORPHA:268249
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy OMIM:619057
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ventriculomegaly, Hyperactivity, Progressive microcephaly, Ataxia, Hypo... OMIM:613402
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Stroke, Spina bifida occulta, Arrhythmia, Bruising susceptibility ORPHA:230839
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608627
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Hydrocephalus, Retinopathy, Microcephaly, Lethargy ORPHA:26
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Cleft palate, Broad long bones, Adducted thumb, Ectopia lentis, Metaphyseal widenin... OMIM:224400
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Delayed epiphyseal ossification, Genu valgum, Frontal bossing, Macrocephal... ORPHA:166024
Dural Sinus Malformation
Cerebral hemorrhage, Hypoplasia of the frontal lobes, Intracranial hemorrhage, Myelopathy, Subdur... ORPHA:97339
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Rhizomelic Chondrodysplasia Punctata
Spina bifida occulta, Scoliosis, Microcephaly ORPHA:177
Hartsfield Syndrome
Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly ORPHA:2117
Dihydropyrimidinase Deficiency
Plagiocephaly, Short phalanx of finger, Talipes equinovarus, Abnormal cerebral white matter morph... OMIM:222748
Holoprosencephaly 7
Flat occiput, Parietal bossing, Frontal bossing, Hypoplasia of the premaxilla, Macrocephaly, Panh... OMIM:610828
Acrofacial Dysostosis, Weyers Type
Facial cleft, Small hand, Advanced eruption of teeth, Overlapping fingers, Postaxial hand polydac... ORPHA:952
Hypertelorism, Microtia, Facial Clefting Syndrome
Micrognathia, Cleft palate, 2-3 toe syndactyly, Facial cleft, Cleft upper lip, Short 5th finger, ... OMIM:239800
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Depressed nasal bridge, Gait imbalance, Wide nose, Hypoplasia of the corpus callosum, Thin upper ... ORPHA:488635
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Flat occiput, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cavu... OMIM:619383
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Synophrys, Epicanthus, Finger syndactyly, Thick eyebrow, Clinodactyly o... ORPHA:3268
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Lissencephaly, Ventriculomegaly, Periventricular ribbonlike heterotopia, Thick cerebral cortex, H... OMIM:618677
New-Onset Refractory Status Epilepticus
Cerebellar edema, Global brain atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal thal... ORPHA:363558
Gómez-López-Hernández Syndrome
Brachycephaly, Cerebellar vermis hypoplasia, Hydrocephalus, Turricephaly, Midface retrusion, Abno... ORPHA:1532
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Abnormal intervertebral disk morphology, Depressed nasal bridge, Abnormal form of th... ORPHA:2311
Mental Retardation, Autosomal Dominant 58
Plagiocephaly, Microcephaly OMIM:618106
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly, Micrognathia, Microcephaly ORPHA:77300
1Q21.1 Microduplication Syndrome
Hypospadias, Attention deficit hyperactivity disorder, Hydrocephalus, Cryptorchidism ORPHA:250994
Neuronal Intranuclear Inclusion Disease
Abnormal form of the vertebral bodies, Spina bifida occulta, Scoliosis ORPHA:2289
Pallister-Hall-Like Syndrome
Micrognathia, Death in infancy, Hypothalamic hamartoma, Hip dislocation, Macrocephaly, Hydrocepha... OMIM:241800
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Cleft palate, Reduced bone mineral density, Cleft lip, Syndactyly, Abn... ORPHA:1505
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Smooth philtrum, Microphthalmia, Polydactyly, Megalencephaly, Ventriculomegaly, Cavum septum pell... OMIM:602501
Acrofacial Dysostosis, Palagonia Type
Hypoplasia of the odontoid process, Spina bifida occulta at S1, Scoliosis, Abnormal vertebral mor... OMIM:601829
Williams-Beuren Region Duplication Syndrome
Gait disturbance, Micrognathia, High palate, Diastema, Short philtrum, Broad nasal tip, Overfolde... OMIM:609757
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Thin corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Plagiocephaly, Partial agenesis of th... OMIM:619512
Central Neurocytoma
Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification, Tinnitus, L... ORPHA:73256
Motor Neuron Disease With Dementia And Ophthalmoplegia
Degeneration of anterior horn cells, Cerebral atrophy OMIM:600333
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Oxycephaly,... OMIM:201020
Intellectual Developmental Disorder, X-Linked 30
High palate, Short nose, Thick upper lip vermilion, Drooling, Macrotia, Prominent nasal bridge, H... OMIM:300558
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Microcephaly OMIM:200130
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Cerebral calcification OMIM:116860
Cach Syndrome
Progressive macrocephaly, Abnormal pons morphology, Cerebellar atrophy, Dysgyria, Cerebellar verm... ORPHA:135
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Temporal cortical atrophy, Brachycephaly, Prominent metopic ridge, Hypoplasia of t... OMIM:618862
Frontofacionasal Dysplasia
Limbal dermoid, Cleft palate, Microphthalmia, Facial cleft, Brushfield spots, Iris coloboma, Non-... ORPHA:1791
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus, Iris coloboma OMIM:210350
Congenital Factor Xiii Deficiency
Recurrent spontaneous abortion, Cerebral hemorrhage, Menorrhagia, Ecchymosis, Gingival bleeding, ... ORPHA:331
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Microcephaly, Azoospermia OMIM:241000
Joubert Syndrome 9
Encephalocele, Scoliosis, Ventriculomegaly OMIM:612285
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Depressed nasal bridge, Mandibular prognathia, Wide nasal bridge, Enamel hypoplasia,... OMIM:600991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hypoplasia of the pons, Optic nerve hypoplasia, Leukoencephalopathy, Retinal deta... OMIM:615181
Ritscher-Schinzel Syndrome 4
Dandy-Walker malformation, Plagiocephaly, Premature anterior fontanel closure, Dysgenesis of the ... OMIM:619435
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Micrognathia, Lens coloboma, 2-3 toe syndactyly, Microphthalmia, Umbilical hernia, Mandibular pro... OMIM:618914
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Encephalocele, Syrin... ORPHA:63259
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Micrognathia, Patent ductus arteriosus, Hypoplasia of the corpus callosum, Microce... OMIM:613457
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum, Chorioretinal coloboma, Posteriorly rotated ears, Hydrocephalus, Dilation of... OMIM:300864
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... ORPHA:2345
Isotretinoin Syndrome
Sacral dimple, Spina bifida occulta, Depressed nasal bridge ORPHA:2305
Cleft palate, Iris coloboma, Abnormal pupil morphology, Midline facial cleft, Microcornea, Median... ORPHA:3374
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Ring Chromosome 21 Syndrome
Gait disturbance, Infertility, Amenorrhea, Azoospermia, Holoprosencephaly, Microcephaly ORPHA:1445
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... ORPHA:101029
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Isolated Plagiocephaly
Plagiocephaly, Midface retrusion, Macrocephaly, Frontal bossing ORPHA:35098
Pelvis-Shoulder Dysplasia
Cleft palate, Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Microglossia, F... ORPHA:2839
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Anencephaly OMIM:614175
Hypertelorism And Tetralogy Of Fallot
Spina bifida occulta, Depressed nasal bridge OMIM:239711
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Long philtrum, Osteoporosis, Thin vermilion borde... ORPHA:85194
Mental Retardation, Autosomal Dominant 48
Hypospadias, Dilated fourth ventricle, Abnormality of the pinna, Prominent nasal bridge, Sensorin... OMIM:617751
Mental Retardation, Buenos Aires Type
Carious teeth, Hypospadias, Prominent nose, High palate, Partial agenesis of the corpus callosum,... OMIM:249630
Noonan Syndrome 13
Plagiocephaly, Metatarsus adductus, Micrognathia, Tapered finger, Cubitus valgus, Overlapping toe... OMIM:619087
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Micrognathia, Ulnar deviation of finger, Long fingers, Thin ve... ORPHA:1895
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, Broad hallux phalanx, Trigonocephaly, Mandibular prognathia, Ventriculomegaly, Ma... ORPHA:168624
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Wide nasal bridge OMIM:614870
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Mend Syndrome
Dandy-Walker malformation, 2-3 toe syndactyly, High palate, Polydactyly, Long fingers, Overlappin... OMIM:300960
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Thick lower lip vermilion, Depressed nasal bridge, Wide mouth, Mandibular prognathia... OMIM:300354
Aminopterin Syndrome Sine Aminopterin
Micrognathia, Megalencephaly, Umbilical hernia, Brachycephaly, Joint contracture of the hand, Ara... OMIM:600325
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Micrognathia, Rocker bottom foot, Wrist flexion contracture, Hip dislocation, Scap... ORPHA:1143
Amish Lethal Microcephaly
Death in infancy, Ventriculomegaly, Spina bifida, Lissencephaly, Agenesis of corpus callosum, Mic... ORPHA:99742
Pontocerebellar Hypoplasia, Type 15
Dystonia, Partial agenesis of the corpus callosum, Death in infancy, Simplified gyral pattern, Hy... OMIM:619302
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Plagiocephaly, Brachycephaly, F... OMIM:617296
Anteverted nares, Abnormal lateral ventricle morphology, Long philtrum ORPHA:324422
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Megalencephaly, Narrow mouth, Hydrocephalus, Polymicrogyria, Abnormal nas... ORPHA:83473
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Midface retrusion, Congenital hip dislocation, Abnormal corpus callosum morphology... ORPHA:457279
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Optic atrophy, Inability to walk, Microcephaly OMIM:618572
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hypoplasia of the corpus callosum, Spina bifida occulta OMIM:618060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Partial absence of cerebellar vermis, Cerebellar dysplasia, Encephalocele, Ventr... OMIM:613150
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Patent ductus arteriosus, Ventr... OMIM:218350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Pulmonic stenosis, Spondylolisthesis, Anteverted nares, Spina bifida occulta, Paroxys... OMIM:617877
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Micrognathia, Talipes equinovarus, Elbow flexion contracture, Small hand, Arachnod... ORPHA:371364
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Microcephaly OMIM:618185
Metatropic Dysplasia
Cleft palate, Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse metaphysea... ORPHA:2635
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:613954
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Transient ischemic attack... ORPHA:36382
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the ... ORPHA:94066
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
Parietal Foramina 3
Encephalocele OMIM:609566
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Disorder Of Sex Development-Intellectual Disability Syndrome
Short nose, Kyphosis, Hypogonadism, Short neck, Spina bifida occulta ORPHA:2983
Diencephalic Syndrome
Optic atrophy, Long penis, Macrotia, Hydrocephalus, Everted lower lip vermilion ORPHA:1672
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Plagiocephaly, Talon cusp, Short metatarsal, Hitchhiker thumb, Carpal synostos... OMIM:605282
Abnormality of neuronal migration, Cleft palate, Short nose, Patent ductus arteriosus, Abnormalit... ORPHA:35107
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Hypospadias, Abnormality of neuronal migration, Abnormal cortical gyration, Abnormal penis morpho... ORPHA:2211
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Death in childhood, CSF lymphocytic pleiocytosis, Ventriculomegaly, Progressi... OMIM:610333
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus OMIM:129850
Adenylosuccinate Lyase Deficiency
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Prominent metopic rid... ORPHA:46
Enlarged pituitary gland, Cerebral calcification, Abnormal hypothalamus morphology, Pituitary hyp... ORPHA:54595
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Hyperphosphatasia With Mental Retardation Syndrome 1
Plagiocephaly, Tapered finger, Mandibular prognathia, Delayed ossification of carpal bones, Hydro... OMIM:239300
Meckel Syndrome, Type 8
Encephalocele, Short neck, Microcephaly OMIM:613885
Pontocerebellar Hypoplasia, Type 1A
Degeneration of anterior horn cells OMIM:607596
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Facial cleft, Cleft uppe... OMIM:607597
Caudate atrophy, Abnormal caudate nucleus morphology, Iron accumulation in globus pallidus, Abnor... ORPHA:157846
Jackson-Weiss Syndrome
Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Toe syndactyly, Ptosis, Mandibular pr... ORPHA:1540
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Linear Nevus Sebaceus Syndrome
Dandy-Walker malformation, Plagiocephaly, Ventriculomegaly, Frontal bossing, Biparietal narrowing... ORPHA:2612
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Cleft palate, Macroglossia, Bifid uvula, Patent ductus arteriosus, Sen... OMIM:612938
Craniosynostosis 4
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Optic nerve hypoplasia, Fronta... OMIM:600775
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... OMIM:113000
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormality of the medulla oblongata, Abnormality of the cerebrospinal ... ORPHA:68
Meningocele, Micrognathia, Cleft palate, Wide mouth, Macroglossia, Holoprosencephaly, Intestinal ... ORPHA:3376
48,Xyyy Syndrome
Thick lower lip vermilion, High palate, Depressed nasal bridge, Long philtrum, Azoospermia, Irreg... ORPHA:99329
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Thin vermilion ... ORPHA:2701
Anauxetic Dysplasia 3
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Genu valgum, Hip subluxation, S... OMIM:618853
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Micrognathia, Abnormal cerebral cortex morphology, Agenesis of cerebel... ORPHA:163961
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Macrocephaly, Hy... OMIM:617967
Leigh Syndrome With Cardiomyopathy
Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal cerebral cortex morp... ORPHA:70474
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Colpocephaly, Rhizomelic arm shortening, Cerebellar hypoplasia, Abnormal... ORPHA:397715
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Cerebral calcification, Microcephaly, Ventriculomegaly ORPHA:1980
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia, Progressive microcephaly, Hypop... OMIM:608097
Opitz-Kaveggia Syndrome
Plagiocephaly, Partial agenesis of the corpus callosum, Micrognathia, Umbilical hernia, Delayed c... OMIM:305450
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Degeneration of anterior horn cells OMIM:604484
Otodental Syndrome
Carious teeth, Lens coloboma, Pulp calcification, Microphthalmia, Retinal coloboma, Long philtrum... ORPHA:2791
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Facial Clefting, Oblique, 1
Coloboma, Deep palmar crease, Facial cleft OMIM:600251
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Microphthalmia, Lissencephaly, Hypoplasia of the brainstem, Progressive mic... OMIM:615249
Alazami-Yuan Syndrome
Underdeveloped nasal alae, Prominent nose, High palate, Long philtrum, Prominent nasal bridge, Hy... OMIM:617126
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Inferior vermis hypoplasia, Hydrocephalus, Cerebellar hy... OMIM:304100
49,Xyyyy Syndrome
Micrognathia, Azoospermia, External genital hypoplasia, Low-set, posteriorly rotated ears, Ventri... ORPHA:99330
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Anteverted nares, Spina bifida occulta ORPHA:1185
49,Xxxxy Syndrome
Carious teeth, Arrhinencephaly, Cleft palate, Abnormal dental enamel morphology, Delayed eruption... ORPHA:96264
Lessel-Kreienkamp Syndrome
Plagiocephaly, Patent ductus arteriosus, Frontal bossing, Wide cranial sutures, Scaphocephaly, De... OMIM:619149
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Ptosis... ORPHA:397973
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Frontal bossing, Macrocephaly, Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Cerebral edema, Increased CSF protein, Abnormality of thalamus morph... ORPHA:88619
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Cocaine Embryofetopathy
Encephalocele ORPHA:1911
Fanconi Anemia, Complementation Group R
Hydrocephalus, Microcephaly OMIM:617244
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Aplasia/Hypoplasia of the lens, Genu valgum, Anal atresia, Cataract ORPHA:1381
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Scoliosis, Microcephaly ORPHA:398156
Aymé-Gripp Syndrome
Plagiocephaly, Reduced arm span, Rocker bottom foot, Tapered finger, Brachycephaly, Large fontane... ORPHA:1272
Brain Small Vessel Disease 2
Intracranial hemorrhage, Schizencephaly, Ventriculomegaly, Porencephalic cyst, Polymicrogyria OMIM:614483
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Frontal cortical atrophy, Amyotrophic lateral sclerosis, Temporal cortical atrophy OMIM:167320
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Cleft palate, Broad nasal tip, U-Shaped upper lip vermilion, Periventricular... OMIM:603671
Cousin Syndrome
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... OMIM:260660
Hyperphosphatasia With Mental Retardation Syndrome 2
Plagiocephaly, Left unicoronal synostosis, Shortening of all distal phalanges of the fingers, Ant... OMIM:614749
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... OMIM:619585
Micrognathia, Cleft palate, Arrhinencephaly, Anencephaly, Agenesis of corpus callosum, Microphtha... ORPHA:2189
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Agenesis of co... OMIM:207950
Three M Syndrome 1
Depressed nasal bridge, Hyperlordosis, Anteverted nares, Short neck, Spina bifida occulta, Increa... OMIM:273750
Joubert Syndrome 1
Plagiocephaly, Occipital myelomeningocele, Dysgenesis of the cerebellar vermis, Agenesis of cereb... OMIM:213300
Parietal Foramina 2
Encephalocele OMIM:609597
Leber Congenital Amaurosis
Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Short nose, Abnormal form of the vertebral bodies, Sacral dimple, Spina b... ORPHA:1327
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Postaxial polydactyly, Hypothalamic hamartoma, Radial deviation of ... OMIM:277170
Joubert Syndrome
Encephalocele, Abnormal form of the vertebral bodies, Cerebellar vermis hypoplasia, Hydrocephalus... ORPHA:475
Distal Monosomy 10Q
Prominent nose, Short nose, Wide nasal bridge, Prominent nasal bridge, Cavum septum pellucidum, D... ORPHA:96148
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Cryptorchidism OMIM:617796
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Bilateral sensorineural hearing impairment, Reduced s... OMIM:611102
Arthrogryposis, Distal, Type 2A
Underdeveloped nasal alae, Kyphoscoliosis, Short nose, Wide nasal bridge, Short neck, Spina bifid... OMIM:193700
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal hip bone morphology ORPHA:294975
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Micrognathia, Cerebellar atrophy, Ventriculomegaly, Frontal bossing, Diffuse cereb... OMIM:617193
Spondyloepiphyseal Dysplasia, Nishimura Type
Micrognathia, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology, Abnormalit... ORPHA:163649
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Plagiocephaly, Toe syndactyly, Micrognathia, Brachycephaly, Delayed closure of the anterior fonta... OMIM:610759
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Slender finger OMIM:615656
Joubert Syndrome 16
Dandy-Walker malformation, Encephalocele OMIM:614465
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Toe syndactyly, Chiari malformation, Finger syndactyly, Foot polydactyly, Ventriculomegaly, Front... ORPHA:60040
Supernumerary Nostril
Facial cleft ORPHA:141096
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Cerebrooculonasal Syndrome
Sparse eyelashes, Facial cleft, Upslanted palpebral fissure, Epicanthus, Postaxial hand polydacty... ORPHA:66625
Cutis Laxa, Autosomal Recessive, Type Iib
Large fontanelles, Bowing of the long bones, Congenital hip dislocation, Frontal bossing, Hydroce... OMIM:612940
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hypoplasia of the corpus callosum, Orbital encephalocele, Agenesis of ... OMIM:164180
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Microcephaly OMIM:268850
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Colpocephaly, Short nose, Uterus didelphys, Urogenital sinus anomaly, Micropenis, Po... OMIM:618820
Acrofacial Dysostosis, Palagonia Type
Abnormal form of the vertebral bodies, Bulbous nose, Short neck, Spina bifida occulta, Scoliosis ORPHA:1787
Progeria-Short Stature-Pigmented Nevi Syndrome
Micrognathia, Microcephaly, Short distal phalanx of finger, Abnormality of thalamus morphology, D... ORPHA:2959
Familial Afibrinogenemia
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Spontaneous abortion, Menometrorrhagia, Abnorm... ORPHA:98880
Fountain Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Spina bifida, Spina bifida occulta, Scoliosis ORPHA:3219
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Encephalomalacia ORPHA:60015
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke OMIM:603284
Pseudoprogeria Syndrome
Spinal arachnoid cyst, Cranium bifidum occultum, Microcephaly ORPHA:2985
Abnormal corpus striatum morphology, Atrophic pituitary gland, Thalamic edema, Dysgenesis of the ... ORPHA:2177
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly, Postaxial polydactyly, Optic nerve hypoplasia, Ventriculomegaly, Hip dysplasia, Hy... ORPHA:457284
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased CSF lactate, Death in infancy, Focal T2 hyperintense thalamic lesion OMIM:619046
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:606070
Neu-Laxova Syndrome
Abnormality of neuronal migration, Cleft palate, Polymicrogyria, Abnormal cortical gyration, Depr... ORPHA:2671
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Cleft palate, Retinal dysplasia, Peters anomaly, Polymicrogyria, Megalocornea, Agyri... OMIM:236670
Joubert Syndrome 14
Dandy-Walker malformation, Encephalocele, Hydrocephalus OMIM:614424
Meckel Syndrome 13
Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Acrocraniofacial Dysostosis
Abnormal form of the vertebral bodies, Prominent nasal bridge, Anteverted nares, Choanal atresia,... ORPHA:949
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Rod-cone dystrophy, Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:601794
Optic atrophy, Abnormal neuron morphology, Hemimegalencephaly, Ventriculomegaly, Pachygyria, Poly... ORPHA:99802
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Progressive microcephaly, Cerebral atrophy, Hypoplasia of the c... OMIM:616657
Lissencephaly 6 With Microcephaly
Widely spaced teeth, Partial agenesis of the corpus callosum, Wide mouth, Microlissencephaly, Per... OMIM:616212
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Midface retrusion, Excessive femoral anteversion, Hitc... ORPHA:56304
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Micrognathia, Hydranencephaly, Ventriculomegaly, Hypoplasia of the bra... OMIM:225790
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Adducted thumb, Flexion contracture of thumb, Absent septum pellucidum, Corticospinal tract hypop... OMIM:307000
Osteopathia Striata-Cranial Sclerosis Syndrome
Wide nasal bridge, Aortic valve stenosis, Hyperlordosis, Cerebral calcification, Spina bifida occ... ORPHA:2780
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short greater sciatic notch, Cloverleaf skull, Bowing of the lo... OMIM:187600
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Hydranencephaly, Talipes equinovarus, Neonatal death, Stillbirth, Hypoplasia ... OMIM:236500
Parietal Foramina 1
Encephalocele OMIM:168500
Intellectual Disability-Strabismus Syndrome
Plagiocephaly, Micrognathia, Talipes equinovarus, Rocker bottom foot, Congenital finger flexion c... ORPHA:363528
Rubinstein-Taybi Syndrome 2
Carious teeth, Micrognathia, Long eyelashes, Downslanted palpebral fissures, Syndactyly, Broad ha... OMIM:613684
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, High palate, Abnormality of the pinna, Wide nasal bridge, Hyperactivity, Ataxia, R... OMIM:300983
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Supernumerary naris, Dilatio... ORPHA:141091
Anencephaly 2
Anencephaly, Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Median cleft lip OMIM:619452
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic r... OMIM:275595
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Micrognathia, Dilated fourth ventricle, Hypoplasia of the pons, Optic nerve hypopl... OMIM:300749
Frontonasal Dysplasia 3
Facial cleft, Upper eyelid coloboma, Sparse eyelashes, Absent eyebrow OMIM:613456
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cerebellar cyst, Holoprosencephaly, Encephalocele, Lissencephaly, Pachygyria, Spinal rigidity, Hy... OMIM:253800
Gorlin Syndrome
Carious teeth, Vertebral fusion, Palmar pits, Mandibular prognathia, Arachnodactyly, Iris colobom... ORPHA:377
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Bulbous nose, Thick nasal alae, Prominent nose, Prominent nasal tip, Choroid ple... ORPHA:293725
Bartsocas-Papas Syndrome 1
Talipes equinovarus, Syndactyly, Pterygium, Cicatricial lagophthalmos, Hypoplasia of the maxilla,... OMIM:263650
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic le... ORPHA:79264
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Chiari malformation, Brachycephaly, Frontal bossing, Abnormality of the metacarpal bones, Aplasia... ORPHA:93262
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Stroke, Intracranial hemorrhage OMIM:105150
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism ORPHA:141333
Weill-Marchesani Syndrome 2
Short metatarsal, Patent ductus arteriosus, Hypoplasia of the maxilla, Umbilical hernia, Elbow fl... OMIM:608328
Meckel Syndrome, Type 3
Dandy-Walker malformation, Occipital encephalocele, Hydrocephalus OMIM:607361
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Microcephaly, Chorioretinal degeneration OMIM:616311
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Craniosynostosis, Patent ductus arteriosus, Microcephaly, Microretrognathia, Brach... ORPHA:457193
Albers-Schönberg Osteopetrosis
Carious teeth, Optic atrophy, Abnormality of epiphysis morphology, Generalized osteosclerosis, Ar... ORPHA:53
Arachnoid Cyst
Chiari malformation, Holoprosencephaly, Encephalocele, Sciatica, Spinal cord compression, Back pa... ORPHA:2356
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Petechiae, Bradycardia, Ventriculomegaly, Polymicrogyria, Cerebral calcifica... OMIM:617397
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Adnp Syndrome
Plagiocephaly, 2-3 toe syndactyly, Polydactyly, Brachycephaly, Trigonocephaly, Abnormality of toe... ORPHA:404448
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... ORPHA:2822
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Mandibular prognathia, Abn... ORPHA:2511
Japanese Encephalitis
Abnormal pons morphology, Talipes equinovarus, Abnormal cerebral morphology, Abnormal caudate nuc... ORPHA:79139
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Hypoplasia of penis, Cleft palate, Microcephaly ORPHA:2216
Mohr Syndrome
Cleft palate, Accessory oral frenulum, Metaphyseal irregularity, Syndactyly, Hydrocephalus, Hypop... OMIM:252100
Joubert Syndrome 7
Encephalocele, Scoliosis, Abnormal corpus callosum morphology OMIM:611560
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
High palate, Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Acromelic Frontonasal Dysplasia
Meningocele, Hypoplasia of the olfactory bulb, Encephalocele, Ventriculomegaly, Anterior pituitar... ORPHA:1827
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Thoracolumbar scoliosis ORPHA:2437
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Ventriculomegaly, Hip dislocation, Macrocephaly, Hydrocephalus, Coxa valga, Hypopl... OMIM:109120
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Osteolytic defects of the middle phalanges of the hand, Meta... OMIM:259610
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Cleft palate, Smooth philtrum, Wide mouth, Depressed nasal bri... ORPHA:261236
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842