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Gene: Apaf1 MGI:1306796

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

apoptotic peptidase activating factor 1

Synonyms:

6230400I06Rik, Apaf1l

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Apaf1 (0 diseases)
Human diseases predicted to be associated with Apaf1 (2025 diseases)

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	Matching phenotypes	Source
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 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
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 19	Amyotrophic lateral sclerosis	OMIM:615515
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:608030
Fryns Microphthalmia Syndrome	Neural tube defect, Abnormality of the vertebral column, Facial cleft	OMIM:600776
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105500
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis	OMIM:612577
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy	OMIM:617892
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Hydrocephalus, Abnormality of neuronal migration, Attention deficit hyperactivity disorde...	OMIM:618709
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Agenesis of cerebellar vermis	OMIM:213010
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Gonadal dysgenesis, Retinal dysplasia, Type II lissencephaly	OMIM:615041
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Rocker bottom foot, Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia...	OMIM:619072
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Facial cleft, Holoprosencephaly, Scoliosis, Anterior encephalocele	OMIM:601357
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Periv...	OMIM:603671
Isolated Dandy-Walker Malformation	Encephalocele, Dandy-Walker malformation	ORPHA:217
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Mac...	OMIM:615938
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616437
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Macrocephal...	ORPHA:467166
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventriculomegaly	ORPHA:324416
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Micrognathia, Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Orbital craniosynostosis	ORPHA:1538
Parietal Foramina 3	Encephalocele	OMIM:609566
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, Unilambdoid synostosis, Brachycephaly,...	OMIM:618577
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia	ORPHA:352682
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Mandibular prognathia, Hyperactivity, Impulsivity, Aggressive behavior, Micrognathia, Cryptorchid...	OMIM:604317
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Chiari malformation	ORPHA:261102
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Flat occiput, Micrognathia, Partial agenesis of the corpus callosum...	ORPHA:300570
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ...	ORPHA:412066
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele	ORPHA:1003
Congenital Hydrocephalus	Posteriorly rotated ears, Abnormal cortical gyration, Hydrocephalus, Sensorineural hearing impair...	ORPHA:2185
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Lateral ventricle dilatation, Macroce...	OMIM:600348
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Anophthalmia Plus Syndrome	Vertebral segmentation defect, Facial cleft, Spina bifida	ORPHA:1104
Alexander Disease Type I	Cerebellar atrophy, Hydrocephalus, Progressive macrocephaly, Abnormal thalamic MRI signal intensi...	ORPHA:363717
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells	OMIM:253550
Monomelic Amyotrophy	Degeneration of anterior horn cells	ORPHA:65684
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Abnormal eyelid morphology, Abnormality of the humerus, A...	ORPHA:1794
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin...	OMIM:182940
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615937
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe...	OMIM:220200
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Pentasomy X	Camptodactyly of finger, Microcephaly, Micrognathia, Patent ductus arteriosus, Small hand, Plagio...	ORPHA:11
Cocaine Embryofetopathy	Encephalocele	ORPHA:1911
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Hydrocephalus, Optic atrophy, Simplified gy...	OMIM:619470
Parietal Foramina 2	Encephalocele	OMIM:609597
Craniosynostosis 6	Cerebellar atrophy, Bicoronal synostosis, Turricephaly, Craniosynostosis, Microcephaly, Parietal ...	OMIM:616602
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia	ORPHA:1528
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Abnor...	ORPHA:59315
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal pla...	ORPHA:435638
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop...	OMIM:615191
Caudal Duplication	Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver...	ORPHA:1756
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, Cone-shap...	OMIM:602849
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Frontal polymicrogyria, Focal cortical dysplasia, Cerebellar vermis hypoplasia, Microcephaly, Bro...	OMIM:614563
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal loss in central n...	OMIM:105550
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy...	ORPHA:2703
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
6Q25 Microdeletion Syndrome	Rocker bottom foot, Camptodactyly of finger, Microcephaly, Micrognathia, Plagiocephaly, Clinodact...	ORPHA:251056
Unilateral Ocular Duplication	Encephalocele, Abnormal pupil morphology, Midline facial cleft, Cleft palate, Microcornea, Iris c...	ORPHA:3374
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Joubert Syndrome 9	Encephalocele, Scoliosis, Ventriculomegaly	OMIM:612285
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Ventric...	OMIM:607432
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of corpus callosum, Dandy...	OMIM:618736
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume, Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb	OMIM:618646
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Hypoplasia of the ...	ORPHA:306542
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Lissencephaly 4	Wide nasal bridge, Simplified gyral pattern, Colpocephaly, Lissencephaly, Agenesis of corpus call...	OMIM:614019
Coasy Protein-Associated Neurodegeneration	Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal...	ORPHA:397725
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, Dolichocepha...	OMIM:615433
Meckel Syndrome 13	Occipital encephalocele, Cerebellar hypoplasia	OMIM:617562
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Fusion of the left...	OMIM:617542
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Nevus Comedonicus Syndrome	Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida	ORPHA:64754
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Fusion of the cerebellar hem...	ORPHA:370959
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele	OMIM:200130
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Syndactyly, Tapered finger, Plagiocephaly, Macrocephaly, Clinodactyly of the 5th finger	OMIM:618725
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Supernumerary tooth, Abnormal pituitary gland morphology, Retrognath...	ORPHA:314621
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Macrocephaly, Plagiocephaly, Genu v...	ORPHA:3210
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Kyphosis, Subdural hemorrhage, Lateral ventricle dilatation, Scoliosis, Spina bifi...	OMIM:618291
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Patent ductus arteriosus, P...	OMIM:617751
Meckel Syndrome, Type 9	Occipital encephalocele	OMIM:614209
Fried Syndrome	Aggressive behavior, Hydrocephalus, Abnormal optic nerve morphology, Gait disturbance, High palat...	ORPHA:85335
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume, Hypoplasia of the br...	OMIM:613668
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Corneal opacity, Aplasia/Hypopla...	ORPHA:1647
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Type II lissencephaly, Hydrocephalus, Brachycephaly, Aplasia/Hypoplasia ...	ORPHA:272
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Dysplastic corpus callosum, Short 5th finger, Focal white matter lesions, ...	ORPHA:557003
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Spina bifida occulta	ORPHA:1514
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:600274
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus, Wide nasal bridge	OMIM:209970
Joubert Syndrome 16	Encephalocele, Dandy-Walker malformation	OMIM:614465
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal vertebral morphology, Ethmoidal encephal...	ORPHA:280195
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias, Attention deficit hyperactivity disorder	ORPHA:250994
Lissencephaly 8	Retrocerebellar cyst, Occipital encephalocele, Cerebellar hypoplasia, Ventriculomegaly	OMIM:617255
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Optic nerve hypoplasia, Joint hypermobility, High, narrow p...	OMIM:607597
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Microcephaly, Hydrocephalus, Plagiocephaly, Hip dysplasia, H...	OMIM:616362
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodac...	OMIM:161200
Craniotelencephalic Dysplasia	Frontal encephalocele, Cerebellar hypoplasia	OMIM:218670
Spondylosis, Cervical	Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis	OMIM:184300
Greig Cephalopolysyndactyly Syndrome	Abnormal calvaria morphology, Camptodactyly of toe, Agenesis of corpus callosum, Broad hallux pha...	OMIM:175700
Leber Congenital Amaurosis	Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Craniofrontonasal Dysplasia	Frontal bossing, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Cr...	ORPHA:1520
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Microcephaly, Patent ductus arteriosus, Plagiocephaly, Hypoplasia of the brainstem, Short 5th fin...	ORPHA:500159
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Toe syndactyly, Micromelia, Microcephaly, Micrognathia...	OMIM:241800
Basal Ganglia Calcification, Idiopathic, 5	Basal ganglia calcification, Cerebellar calcifications, Cerebral calcification, Thalamic calcific...	OMIM:615483
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Short neck, Hyperlordosis, Abnormal sacrum morphology, Wide nasal bridge, Verte...	ORPHA:1797
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Basal ganglia calcification, Cerebellar calcifications, Thalamic calcification	OMIM:618824
Thanatophoric Dysplasia Type 2	Encephalocele, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Joubert Syndrome 15	Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Molar tooth sign on MRI, Retinopathy	OMIM:614464
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Anteverted nares, Hydrocephalus, Optic atrophy, Low-set ears, Self-mutilation	OMIM:300884
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scolio...	ORPHA:2345
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Brachycephaly, Plagiocephaly, Hypoplasia of th...	OMIM:618603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Type II lissencephaly, Hypoplasia of the pons, Pac...	OMIM:613153
Lissencephaly, X-Linked, 1	Death in infancy, Ataxia, Gray matter heterotopia, Lissencephaly, Micropenis, Pachygyria, Agenesi...	OMIM:300067
Alkuraya-Kucinskas Syndrome	Cerebellar dysplasia, Ventriculomegaly, Overlapping toe, Micrognathia, Hydrocephalus, Aplasia/Hyp...	OMIM:617822
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preax...	ORPHA:380
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Meckel Syndrome, Type 11	Occipital encephalocele	OMIM:615397
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Plagiocephaly, Ventriculomegaly	OMIM:618008
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Carious teeth, Small hand, Facial cleft, Hyp...	ORPHA:1786
Lissencephaly 3	Ataxia, Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, ...	OMIM:611603
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Frontal bossing, Arachnodactyly, Postaxial polydactyly, Microcephaly, Doli...	OMIM:619721
Parietal Foramina 1	Encephalocele	OMIM:168500
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Anencephaly, Cerebellar hypopla...	OMIM:614175
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Chiari type I malformation, Agenesis of corpus callosum, Macrocephaly	ORPHA:459074
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati...	ORPHA:171844
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Intellectual Developmental Disorder, X-Linked 103	Anteverted nares, Bilateral cryptorchidism, Lateral ventricle dilatation, Micropenis, Polymicrogyria	OMIM:300982
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Polymicrogyria, Midface retrusion	OMIM:618731
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypop...	OMIM:618193
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Tapered finger, Small hand, Brachycephaly, Thick corpus callosum, Prominen...	OMIM:618672
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Spina bifida occulta, Depressed nasal bridge, Sacrococcygeal pilonidal abnormality	ORPHA:2840
Holoprosencephaly 5	Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Hydrocephalu...	OMIM:609637
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk...	OMIM:611134
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Spina bifida occulta	OMIM:101805
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Frontal bossing, Midface retrusion, Cerebellar vermis hypoplasia, Toe synd...	OMIM:619720
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi...	OMIM:618821
Deafness-Infertility Syndrome	Male infertility, Azoospermia, Sensorineural hearing impairment	ORPHA:94064
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:612069
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Precocious atherosclerosis, Stroke, Arrhythmia, Spina bifida occulta...	ORPHA:230839
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Camptodactyly of finger, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the c...	ORPHA:2570
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S...	ORPHA:97339
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Micrognathia, Brachycephaly, 2-3 toe syndactyly, Postaxial foot polydactyl...	ORPHA:404440
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Hypogonadism, Short nose, Spina bifida occulta	ORPHA:2983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Hydrocephalus, Retinal dysplasia, Microphthalmia, Ventriculomegaly	OMIM:614830
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Ataxia	ORPHA:99966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Re...	OMIM:614643
Distal Deletion 13Q	Encephalocele, Anencephaly, Holoprosencephaly, Abnormal form of the vertebral bodies	ORPHA:1590
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly	ORPHA:2898
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Abnormal vertebral morphology, Spina bifida occulta at S1	OMIM:102510
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Anteverted nares, Depressed nasal bridge, Short neck, Cr...	ORPHA:2311
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis	OMIM:184400
Muenke Syndrome	Short palm, Tarsal synostosis, Hydrocephalus, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis...	ORPHA:53271
Kniest Dysplasia	Enlarged epiphyses, Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femora...	ORPHA:485
Peroxisome Biogenesis Disorder 6A (Zellweger)	Wide nasal bridge, Colpocephaly, Low-set ears, Neonatal death, Pachygyria	OMIM:614870
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Bresek Syndrome	Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Postaxial hand polydactyly, Plagiocephaly, N...	ORPHA:85284
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Frontal bossing, Lateral ventricle dilatation, Patent ductus arteriosus	OMIM:618330
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Spina bifida occulta, Tethered cord	OMIM:615281
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Broad nasal tip, Cryptorchid...	OMIM:609757
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Vertebral artery hypoplasia, Abnormal odontoid process morphology, Block verteb...	OMIM:613686
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Wide nose, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Flared nostrils, Dilated cardiomy...	ORPHA:280679
Walker-Warburg Syndrome	Hypoplasia of penis, Chorioretinal dysplasia, Protruding ear, Abnormal optic nerve morphology, Re...	ORPHA:899
Kleeblattschaedel	Craniosynostosis, Hydrocephalus, Elbow ankylosis, Recurrent corneal erosions	OMIM:148800
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Syringom...	OMIM:207950
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ...	OMIM:614963
Frontofacionasal Dysplasia	Encephalocele, Cataract, Brushfield spots, Facial cleft, Cleft palate, Microcornea, Limbal dermoi...	ORPHA:1791
Acrofacial Dysostosis, Weyers Type	Postaxial hand polydactyly, Small hand, Facial cleft, Advanced eruption of teeth, Clinodactyly of...	ORPHA:952
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck	OMIM:613885
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl...	ORPHA:1908
Sporadic Fetal Brain Disruption Sequence	Prominent occiput, Plagiocephaly, Cerebral cortical atrophy, Microcephaly	ORPHA:1665
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Frontal bossing, Microretrognathia, Agenesis of cerebellar vermis, Post...	OMIM:220220
Central Precocious Puberty In Male	Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Hydrocephalus, Atten...	ORPHA:649929
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Hydrocephalus, Cleft palate, Bicornuate uterus, Bifid uvula	OMIM:258320
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Coxa valga, Micrognathia, Hydrocephalus, Plagiocephaly, Colpocephaly, Hammertoe, Hi...	OMIM:619833
Hartsfield Syndrome	Encephalocele, Lobar holoprosencephaly	ORPHA:2117
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Dandy-Walker malformation	OMIM:123155
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Masa Syndrome	Microcephaly, Hydrocephalus, Talipes equinovarus, Macrocephaly, Agenesis of corpus callosum, Vent...	OMIM:303350
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele	OMIM:614416
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Cerebral white matter atrophy, Ventriculomegaly, Microcephaly, Hydrocephal...	ORPHA:500055
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Microcephaly, Micrognathia, Cerebral atrophy, Plagiocephaly, Bilateral talipe...	ORPHA:544469
Cach Syndrome	Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Progressive macrocephaly, Cerebellar v...	ORPHA:135
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Microcephaly, Plagiocephaly, Abnormal cerebral white matter morphology, Talip...	OMIM:617481
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foo...	OMIM:614120
Mosaic Trisomy 9	Corneal opacity, Rocker bottom foot, Spina bifida, Micrognathia, Micromelia, Elbow dislocation, C...	ORPHA:99776
Gómez-López-Hernández Syndrome	Turricephaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Brachy...	ORPHA:1532
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Kyphoscoliosis	OMIM:614815
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:603194
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Optic nerve hypoplasia, Cra...	ORPHA:93932
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia, Simplified gyral pattern, Ventriculomegaly	OMIM:613402
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Familial Afibrinogenemia	Abnormal bleeding, Menometrorrhagia, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Isotretinoin Syndrome	Sacral dimple, Spina bifida occulta, Depressed nasal bridge	ORPHA:2305
Neurogenic Arthrogryposis Multiplex Congenita	Hip contracture, Rocker bottom foot, Micrognathia, Scaphocephaly, Hip dislocation, Elbow flexion ...	ORPHA:1143
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum	ORPHA:521390
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Frontal bossing, Craniosynostosis, Dolichocephaly, Micrognathia, Hydrocephalus, Patent ductus art...	ORPHA:1516
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:608627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypo...	OMIM:615181
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Facial cleft, Foot polydactyly, Chorioret...	ORPHA:268249
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Anteverted nares, Prominent nasal bridge, Aggressive behavior, Hydro...	OMIM:300558
Malan Overgrowth Syndrome	Frontal bossing, Scaphocephaly, Plagiocephaly, Slender long bone, Lateral ventricle dilatation, H...	ORPHA:420179
Intellectual Developmental Disorder, Autosomal Dominant 64	Single transverse palmar crease, Microcephaly, Micrognathia, Plagiocephaly, Cerebellar hypoplasia...	OMIM:619188
Oculoauriculofrontonasal Syndrome	Encephalocele, Scoliosis	ORPHA:398156
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Dystonia 30	Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot...	OMIM:619291
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Paroxysmal supraventricular tachycardia, Transposition of the great arteries, P...	OMIM:617877
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Sen...	OMIM:612938
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Cerebral atrophy	OMIM:619057
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
47,Xyy Syndrome	Male infertility, Hyperactivity, Macroorchidism, Hypospadias, Impulsivity, Cryptorchidism, Hydroc...	ORPHA:8
Oculocerebrocutaneous Syndrome	Cleft ala nasi, Cryptorchidism, Orbital encephalocele, Cleft palate, Gray matter heterotopia, Age...	OMIM:164180
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification	OMIM:618317
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Three M Syndrome 1	Depressed nasal bridge, Anteverted nares, Short neck, Hyperlordosis, Increased vertebral height, ...	OMIM:273750
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus, Iris coloboma	OMIM:210350
Spinal Muscular Atrophy, Type Iii	Degeneration of anterior horn cells	OMIM:253400
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter...	OMIM:619302
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Hydrocephal...	ORPHA:54595
Pseudoprogeria Syndrome	Cranium bifidum occultum, Spinal arachnoid cyst	ORPHA:2985
New-Onset Refractory Status Epilepticus	Abnormal basal ganglia MRI signal intensity, Cerebellar edema, CSF pleocytosis, Abnormal thalamic...	ORPHA:363558
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ...	OMIM:618914
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Mandibular prognathia, Apl...	ORPHA:94066
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Tapered finger, Microcephaly, Small hand, Plagiocephaly, Short foot, Macrocephaly, Cl...	OMIM:618089
Hypertelorism, Microtia, Facial Clefting Syndrome	Abnormality of the vertebral column, Abnormal vertebral morphology, Facial cleft	OMIM:239800
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Ventriculomegaly, Global brain atrophy, Microcephaly	OMIM:308350
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Hypoplasia of the pons, Plagiocephaly, Cerebellar hypoplasia, Macrocephaly	OMIM:607313
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Miscarriage, T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cer...	ORPHA:1947
Iniencephaly	Encephalocele, Spina bifida, Hyperlordosis, Hydrocephalus, Myelomeningocele, Anencephaly, Absent ...	ORPHA:63259
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Microcephaly, Tapered finger, Brachycephaly, Plagiocephaly, Abnormal cerebral white ...	ORPHA:261652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Hydrocephalus, Flexion contracture, Developmental cataract, Macroglossia, Hypo...	OMIM:613155
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion, Leukoencephalopathy	OMIM:613724
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Spondylo-Ocular Syndrome	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Osteoporosis, Joint hyperflexibilit...	ORPHA:85194
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Hydrocephalus, Rhizomelia	OMIM:166990
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Temple Syndrome	Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Prec...	OMIM:616222
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Posteriorly rotated ears, Thick nasal alae, Micrognathia, Hydrocephalus, Retrog...	ORPHA:163961
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration	ORPHA:803
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Pelvis-Shoulder Dysplasia	Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Microcornea, Iris co...	ORPHA:2839
Isochromosomy Yp	Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size	ORPHA:98797
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Frontal bossing, Hip contracture, Microcephaly, Tapered finger, Brachycephaly, Cerebral atrophy, ...	OMIM:616801
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Ataxia, Hydrocephalus, Optic atrophy, Increased CSF lactate, Choreoathetosis, C...	OMIM:616034
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Proximal femoral metaphyseal...	ORPHA:397715
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Hydrocephalu...	ORPHA:171839
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia	OMIM:600251
Anauxetic Dysplasia 3	Short metacarpal, Brachydactyly, Hip subluxation, Wide anterior fontanel, Squared iliac bones, Fe...	OMIM:618853
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Telecanthus, Hypoplas...	ORPHA:397973
Houge-Janssens Syndrome 3	Frontal bossing, Single transverse palmar crease, Microcephaly, Plagiocephaly, Hypoplasia of the ...	OMIM:618354
Blepharophimosis-Impaired Intellectual Development Syndrome	Frontal bossing, Tapered finger, Hypoplasia of the pons, Patent ductus arteriosus, Dental maloccl...	OMIM:619293
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Cataract, Myelomeningocele, Hydrocephalus, Optic atrophy, Epiphyseal stippling, Ma...	ORPHA:1914
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Hip subluxation, Brachycephaly, Cerebral cortical atrophy, Agenesis of corpus callo...	OMIM:620200
Coffin-Siris Syndrome 6	Frontal bossing, Micrognathia, Retrognathia, Plagiocephaly, Clinodactyly, Periventricular leukoma...	OMIM:617808
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Spina bifida occulta, Anteverted nares	ORPHA:1185
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Diffuse cerebral atrophy, Turricephaly, Arachnodactyly, Broad hallux, Proximal pla...	OMIM:613776
Alg13-Cdg	Abnormal lateral ventricle morphology, Anteverted nares	ORPHA:324422
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Partial agenesis of the corpus callosum, Brachycephaly, Cerebral atrophy, Plagio...	OMIM:617296
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impai...	OMIM:615219
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Frontal bossing, Agenesis of corpus callosum, Macrocephaly	OMIM:618929
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Gait ataxia, Gait imbal...	ORPHA:488635
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Hearing impairment	ORPHA:1008
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Retinopathy, Gait disturbance	ORPHA:26
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta	OMIM:618060
Dihydropyrimidinase Deficiency	Plagiocephaly, Abnormal cerebral white matter morphology, Short phalanx of finger, Talipes equino...	OMIM:222748
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly, Microcephaly	OMIM:241000
Frontonasal Dysplasia 1	Ptosis, Epicanthus, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal si...	OMIM:136760
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Joubert Syndrome 7	Encephalocele, Scoliosis	OMIM:611560
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ...	OMIM:605282
Kleefstra Syndrome 2	Plagiocephaly, Midface retrusion, Microcephaly	OMIM:617768
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Tapered finger, Hip dislocation, Brachycephaly, Narrow palm, Plagioc...	OMIM:619435
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, High, narrow palate	ORPHA:2183
Holoprosencephaly-Craniosynostosis Syndrome	Brachydactyly, Craniosynostosis, Microcephaly, Coxa valga, Brachycephaly, Plagiocephaly, Holopros...	ORPHA:2163
Metatropic Dysplasia	Cataract, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness,...	ORPHA:2635
Holoprosencephaly 7	Frontal bossing, Flat occiput, Hypoplasia of the premaxilla, Microcephaly, Alobar holoprosencepha...	OMIM:610828
Rhizomelic Chondrodysplasia Punctata	Spina bifida occulta, Scoliosis	ORPHA:177
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy, Hypoplasia of the brainstem, Bilateral talipes equinovarus, Pachygyria	OMIM:618174
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Degeneration of anterior horn cells, Axonal degeneration	OMIM:604484
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Frontal bossing, Turricephaly, Microretrognathia, Microcephaly, Megalencep...	OMIM:613603
Edinburgh Malformation Syndrome	Death in infancy, Hydrocephalus	OMIM:129850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cerebellar dysplasia, Spinal rigidity, Hydrocephalus, Partial absence of cerebella...	OMIM:613150
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, High, narrow palate, Hydrocephalus, Ileus, Retrognathia, Colpocephaly, High palate,...	OMIM:620156
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Facial cleft, Upslanted...	ORPHA:66625
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration,...	ORPHA:2211
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Prominent nasal bridge, Bulbous nose, Wide nasal bridge, Scoliosis, Spina bifida occulta, Agenesi...	OMIM:617360
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Hyperactivity, Hypospadias, Abnormal pinna morphology, Depressed nasal bri...	OMIM:300354
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Lessel-Kreienkamp Syndrome	Frontal bossing, Patent ductus arteriosus, Scaphocephaly, Dental malocclusion, Plagiocephaly, Cli...	OMIM:619149
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Bifid nasal tip, Optic atr...	OMIM:300983
Fountain Syndrome	Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:3219
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Distal Deletion 10Q	Lumbar hyperlordosis, Prominent nasal bridge, Prominent nose, Patent ductus arteriosus, Wide nasa...	ORPHA:96148
Camptodactyly Syndrome, Guadalajara Type 1	Sacral dimple, Depressed nasal bridge, Anteverted nares, Spina bifida, Abnormal form of the verte...	ORPHA:1327
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-li...	OMIM:300845
Acrofacial Dysostosis, Palagonia Type	Short neck, Bulbous nose, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:1787
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:615911
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension...	ORPHA:90065
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Flat occiput, Cerebellar vermis hypoplasia, Overlapping fingers, Overlapping toe, Plagiocephaly, ...	OMIM:619383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Coloboma, Congenital contracture, Hypoplasia of the brains...	OMIM:236670
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Ankyloblepharon, Hypoplastic ...	OMIM:263650
Supernumerary Nostril	Facial cleft	ORPHA:141096
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Anteverted nares, Depressed nasal bridge, Inability to walk, Lobulated ...	OMIM:613443
Alexander Disease	Death in infancy, Ataxia, Hydrocephalus, Dysmetria, Death in adolescence, Death in childhood, Inc...	OMIM:203450
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Desmosterolosis	Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ...	ORPHA:35107
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Czeizel-Losonci Syndrome	Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta	ORPHA:2437
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Cerebral calcification, Death in in...	OMIM:259775
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo...	OMIM:304100
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus, Ataxia	ORPHA:73256
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Arthrogryposis, Distal, Type 2A	Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Cryptorchidism, Wide nasal bridge, Scolios...	OMIM:193700
Constricting Bands, Congenital	Encephalocele, Facial cleft, Scoliosis	OMIM:217100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Flexion contractu...	OMIM:613154
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Rocker bottom foot, Microcephaly, Microgna...	ORPHA:363528
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Hydrocephalus, Patent ductus arteriosus, Brachycephaly, Chiari type I malformati...	OMIM:218350
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
White Forelock With Malformations	Spina bifida occulta	ORPHA:2475
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Periventricular Nodular Heterotopia 7	Microretrognathia, Optic disc pallor, Ataxia, Anteverted nares, Micrognathia, Cryptorchidism, Sen...	OMIM:617201
Adams-Oliver Syndrome 2	Depressed nasal bridge, Micrognathia, Hydrocephalus, Bulbous nose, Optic atrophy, Protruding ear,...	OMIM:614219
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Wide anterior fontanel, Upper eyelid coloboma, Clinodactyl...	OMIM:619736
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal form of the vertebral bodies...	ORPHA:475
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Alazami-Yuan Syndrome	Hyperactivity, Prominent nasal bridge, Prominent nose, Underdeveloped nasal alae, Cryptorchidism,...	OMIM:617126
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Type II lissencephaly, Hydrocephalus, Flexion contracture, Coloboma, Hypoplasia of the ...	OMIM:615249
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da...	OMIM:617967
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Coxa valga, Micrognathia, Slender finger, Wide anterior fontanel, Abnormality of...	ORPHA:163649
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Aqueduct...	OMIM:619512
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Frontal bossing, Hip contracture, Arachnodactyly, Microcephaly, Micrognathia, Small hand, Elbow f...	ORPHA:371364
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Turricephaly, Broad hallux, Tapered finger, Micrognathia, Short thumb, Plagiocephaly, Chiari type...	OMIM:620224
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract, Anal atresia, Genu valgum	ORPHA:1381
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand...	ORPHA:56304
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Sandal gap, Tapered finger, Brachycephaly, Plagiocephaly, Macrocephaly, Clinodac...	OMIM:618430
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal cerebrospinal fluid morpholo...	ORPHA:68
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion, Cerebral infarct	ORPHA:254881
Cebalid Syndrome	Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Polymicrogyria, Mid...	OMIM:618774
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Narrow palpebral fissure, Broad eyebrow	OMIM:618302
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Retinal detachment, Cataract, Optic nerve hypoplasia, Micrognathia, Hypopl...	OMIM:620157
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Abnormality of the hand, Brachycephaly, Plagiocephaly, Camptod...	ORPHA:369891
Frontonasal Dysplasia 3	Absent eyebrow, Facial cleft, Sparse eyelashes, Upper eyelid coloboma	OMIM:613456
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Degeneration of anterior horn cells	OMIM:159950
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly, Micrognathia, Microcephaly	ORPHA:77300
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal nasal morphology, Hydrocephalus, Polymicrogyria, Depressed nasal bridge	ORPHA:83473
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening...	OMIM:614424
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele	ORPHA:60015
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly, Sandal gap, Mandibular prognathia	OMIM:615516
Otodental Syndrome	Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Carious teeth, Lens colob...	ORPHA:2791
Neuroferritinopathy	Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign...	ORPHA:157846
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema, Increased CSF protein ...	ORPHA:88619
Edinburgh Malformation Syndrome	Micrognathia, Brushfield spots, Long fingers, Hydrocephalus, Joint stiffness, Abnormality of neur...	ORPHA:1895
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
16P13.11 Microdeletion Syndrome	Anteverted nares, Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Abnor...	ORPHA:261236
Alagille Syndrome	Peripheral pulmonary artery stenosis, Telangiectasia of the skin, Long nose, Cryptorchidism, Abno...	ORPHA:52
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Chiari ma...	ORPHA:93262
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary teeth, Wide an...	OMIM:620099
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Spina bifida, Patent ductus arteriosus, Anomalous pulm...	ORPHA:1120
Progeria-Short Stature-Pigmented Nevi Syndrome	Micrognathia, Microcephaly, Dental malocclusion, Abnormal thalamus morphology, Short distal phala...	ORPHA:2959
Spinal Muscular Atrophy With Mental Retardation	Syndactyly, Microcephaly	OMIM:271109
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm	OMIM:608653
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Temple Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc...	ORPHA:254516
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Plagiocephaly, Slender long bone, Decreased calvarial ossificatio...	OMIM:618265
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:1980
Carpenter Syndrome 1	Sacral dimple, Depressed nasal bridge, Short neck, Cryptorchidism, Patent ductus arteriosus, Tetr...	OMIM:201000
Opitz-Kaveggia Syndrome	Relative macrocephaly, Frontal bossing, Syndactyly, Broad hallux, Single transverse palmar crease...	OMIM:305450
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Frontal bossing, Delayed epiphyseal ossification, Cerebral atrophy, Cutaneous syndactyly, Genu va...	ORPHA:166024
Hydrolethalus	Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Submucous cleft h...	ORPHA:2189
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Wide nasal bridge, Wide nasal base, Polyphagia, Self-mutilation	OMIM:616521
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Scoliosis, Abnormal vertebral morphology	ORPHA:220493
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Ectopia lentis, Micrognath...	OMIM:224400
Diencephalic Syndrome	Macrotia, Hydrocephalus, Long penis, Optic atrophy	ORPHA:1672
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of ...	OMIM:613330
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Anteverted nares, Carious teeth, Cryptorchidism, Hydrocephalus...	ORPHA:2701
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia, Polymicrogyria, Ventriculom...	OMIM:602501
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Cerebellar vermis hypoplasia, Arachnodactyly, Microcephaly, Elbow dislocat...	OMIM:620083
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Back pain, Spinal cord compression, Abnormal cer...	ORPHA:2356
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly	OMIM:611561
Keipert Syndrome	Broad hallux phalanx, Ptosis, Epicanthus, Short hallux, Aplasia/Hypoplasia of the distal phalange...	ORPHA:2662
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Lacrimal duct a...	ORPHA:1529
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Acrocraniofacial Dysostosis	Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies,...	ORPHA:949
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Carious teeth, Mandibular osteomyelitis, Hydrocephalus, Gener...	ORPHA:53
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Scoliosis	ORPHA:2318
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Brain atrophy	ORPHA:52430
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus, Preaxial polydactyly, Coloboma	ORPHA:141333
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Terminal Osseous Dysplasia	Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Abnormal hand bone ossifica...	OMIM:300244
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Frontorhiny	Encephalocele, Lumbar hyperlordosis, Scoliosis, Basal encephalocele, Cranium bifidum occultum	ORPHA:391474
Galloway-Mowat Syndrome 4	Tapered finger, Cerebral atrophy, Plagiocephaly, Cerebellar hypoplasia, Primary microcephaly, Pol...	OMIM:617730
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells	OMIM:301830
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Congenital hip dislocation, Dolichocephaly, Wide anterior fontanel, Plagiocephal...	ORPHA:457279
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, El...	OMIM:213300
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Cataract, Abnormal dental enamel morphology, Micrognathia, Hypo...	ORPHA:861
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talon c...	OMIM:613684
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary mi...	OMIM:619306
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Scoliosis	ORPHA:220497
Neurocutaneous Melanocytosis	Death in infancy, Ventriculomegaly, Meningocele, Intracranial hemorrhage, Syringomyelia, Dandy-Wa...	ORPHA:2481
Polyrrhinia	Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph...	ORPHA:141091
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Ventriculomegaly, Optic ...	OMIM:615574
Amish Lethal Microcephaly	Death in infancy, Ventriculomegaly, Agenesis of corpus callosum, Spina bifida	ORPHA:99742
Triploidy	Finger syndactyly, Cataract, Intestinal malrotation, Micrognathia, Hydrocephalus, Meningocele, Cl...	ORPHA:3376
Japanese Encephalitis	Increased CSF protein concentration, Abnormal substantia nigra morphology, CSF pleocytosis, Elbow...	ORPHA:79139
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tapered finger, Hydrocephalus, Short toe, Plagiocephaly, Delayed ossificat...	OMIM:239300
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebral atrophy, Abnormal cerebral white matter morphology, Focal T2 hyperin...	ORPHA:79264
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Ileal atresia, Micrognathia, Protruding ear, Holoprosencephaly, Microp...	OMIM:618820
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Death in infancy, Focal T2 hyperintense thalamic lesion, Increased CSF lactate	OMIM:619046
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalu...	ORPHA:2655
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Lateral ven...	ORPHA:2822
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Periventricular heterotopia, Micrognathia, Prominent nose, Pa...	OMIM:616171
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Macrotia	OMIM:300886
3C Syndrome	Death in infancy, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Intestinal malrotation, Dep...	ORPHA:7
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Abnormal vertebral morphology, Short neck	ORPHA:2015
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Waardenburg Syndrome Type 1	Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, Scoliosis, Short nose	ORPHA:894
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Micrognathia, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Joint c...	OMIM:225790
Noonan Syndrome 13	Overlapping toe, Tapered finger, Microcephaly, Cubitus valgus, Metatarsus adductus, Micrognathia,...	OMIM:619087
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta	OMIM:268850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Spinal rigidity, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Scoliosi...	OMIM:253800
Spinal Muscular Atrophy, Type Iv	Degeneration of anterior horn cells	OMIM:271150
Osteopathia Striata-Cranial Sclerosis Syndrome	Hyperlordosis, Wide nasal bridge, Coarctation of aorta, Scoliosis, Aortic valve stenosis, Spina b...	ORPHA:2780
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad hallux, Microcephaly, Shortening of all distal phalanges of the fingers, Plagiocephaly, Lef...	OMIM:614749
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Anterior pituitary hypoplasia, Microcephaly, Hip subluxation, Micr...	OMIM:613457
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Cloverleaf skull, Broad hallux, Shortening ...	OMIM:101600
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele	ORPHA:521308
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Pseudo-Torch Syndrome 2	Ventriculomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Lateral ventricle dilatation, Br...	OMIM:617397
Frontonasal Dysplasia 2	Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg...	OMIM:613451
Fraxe Intellectual Disability	Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Prominent ear helix, Ste...	ORPHA:100973
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt...	OMIM:619339
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Frontal bossing, Toe syndactyly, Single transverse palmar crease, Limited elbow movement, Proxima...	OMIM:610759
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil...	OMIM:167730
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Maternal Hyperthermia-Induced Birth Defects	Hypoplasia of penis, Abnormality of neuronal migration, Cleft palate	ORPHA:2216
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Abnormality of neuronal m...	ORPHA:2772
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis	ORPHA:228390
Hemihyperplasia, Isolated	Myelomeningocele, Scoliosis	OMIM:235000
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg...	ORPHA:2180
Aicardi-Goutieres Syndrome 4	Hydrocephalus, CSF lymphocytic pleiocytosis, Low-set ears, Death in childhood, Convex nasal ridge...	OMIM:610333
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc...	ORPHA:99947
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow, Split hand, 2-3 f...	OMIM:225280
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal ...	ORPHA:163966
Pontocerebellar Hypoplasia, Type 7	Ataxia, Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, Optic atrophy, Wide nasal b...	OMIM:614969
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Cryptorchidism, Decreased fertility, Wide nasal bridg...	ORPHA:500
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Microcephaly, Brachycephaly, Temporal cortical atrophy, Plagiocephaly, Hypoplasia of the corpus c...	OMIM:618862
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Arachnodactyly, Hydrocephalus, Ocular albinism, Abnormal brainstem morphology, Reduced ...	ORPHA:2720
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Sacral Defect With Anterior Meningocele	Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Meni...	OMIM:600145
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem...	ORPHA:326
Thanatophoric Dysplasia, Type I	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Hy...	OMIM:187600
Hemimegalencephaly	Abnormal neuron morphology, Optic atrophy, Gray matter heterotopia, Pachygyria, Polymicrogyria, V...	ORPHA:99802
Martsolf Syndrome 2	Lateral ventricle dilatation, Macrotia, Hypogonadotropic hypogonadism, Broad nasal tip	OMIM:619420
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Depressed nasal bridge, Thyroid lymphangiectasia, Cryptorchidism, P...	OMIM:235510
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly, Small hand, Hypoplasia of the corpus callosum, Microcephaly	OMIM:620149
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae	OMIM:619227
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Retinal dystrophy, Ataxia, Anteverted n...	OMIM:608629
Pai Syndrome	Encephalocele	ORPHA:1993
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Ventriculomegaly, Retrocerebellar cyst	ORPHA:1827
16Q24.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Periventricular heterotopia, Micrognathia, Cryptorchidi...	ORPHA:261250
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed...	OMIM:202400
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Brachycephaly, Plagiocephaly, Talipes equinovarus, Clinodactyly	OMIM:616789
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Anal atresia, Rocker bottom foot, Hydrocephalus, Patent ductus arteriosu...	OMIM:612582
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Decrease...	ORPHA:168577
Crouzon Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Narrow palate, Multiple suture craniosyn...	ORPHA:207
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Finger syndactyly, Overlapping fingers, Overlapping toe, Single transverse...	ORPHA:464738
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Wide nose, 4-layered lissencephaly, Abnormal retinal morphology, Abnormality o...	ORPHA:89844
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta	OMIM:169550
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Inability to walk, Wide nasal bridge, Cleft palate, Large earlobe, Lateral ventr...	OMIM:615716
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Anisospondyly, Short neck	ORPHA:1865
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Microcep...	OMIM:600325
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Frontal bossing, Diffuse cerebral atrophy, Microcephaly, Micrognathia, Plagio...	OMIM:617193
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c...	OMIM:216360
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Muscle-Eye-Brain Disease	Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Cleft palate, Spi...	ORPHA:1926
Li-Ghorbani-Weisz-Hubshman Syndrome	Depressed nasal bridge, Prominent nasal bridge, Periventricular heterotopia, Patent ductus arteri...	OMIM:618974
Autism Spectrum Disorder Due To Auts2 Deficiency	Prominent nasal tip, Hyperactivity, Anteverted nares, Micrognathia, Cryptorchidism, Repetitive co...	ORPHA:352490
Thanatophoric Dysplasia Type 1	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Short femur, Micromelia, Hypoplastic...	ORPHA:1860
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus...	ORPHA:2215
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly, Scoliosis	ORPHA:1335
Emanuel Syndrome	Micrognathia, High palate, Micropenis, Agenesis of corpus callosum, Bifid uvula, Dandy-Walker mal...	ORPHA:96170
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Cataract, Arachnodactyly, Carious teeth, Palmar pits, Hy...	ORPHA:377
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Broad-based gait, Hyperactivity, Anteverted nares, Aggressive behavior, Precocious puberty, Bulbo...	OMIM:300958
Pontocerebellar Hypoplasia, Type 1A	Degeneration of anterior horn cells, Cerebral cortical atrophy	OMIM:607596
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Congenital Toxoplasmosis	Microphthalmia, Abnormality of retinal pigmentation, Hydrocephalus, Ventriculomegaly	ORPHA:858
Neu-Laxova Syndrome	Ventriculomegaly, External genital hypoplasia, Spina bifida, Abnormal cortical gyration, Microgna...	ORPHA:2671
Trisomy 1Q	Microretrognathia, Wide nose, Small scrotum, Depressed nasal bridge, Cryptorchidism, Hydrocephalu...	ORPHA:261344
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Abnormal cerebellum morphology, Diffuse white matt...	ORPHA:83597
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Neu-Laxova Syndrome 2	Spina bifida, Short neck, Cerebellar hypoplasia, Scoliosis, Ventriculomegaly	OMIM:616038
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly, Abnormal toe morphology,...	ORPHA:404448
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Coach Syndrome 2	Hydrocephalus, Coloboma, Chorioretinal coloboma, Molar tooth sign on MRI, Agenesis of corpus call...	OMIM:619111
Mohr Syndrome	Syndactyly, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Post...	OMIM:252100
3Mc Syndrome	Hyperlordosis, Bilateral cryptorchidism, Abnormal nasal morphology, Prominent coccyx, Scoliosis, ...	ORPHA:293843
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Frontal bossing, Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Chiari malfo...	ORPHA:60040
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Lenz-Majewski Hyperostotic Dwarfism	Prominent scalp veins, Choanal atresia, Dysplastic corpus callosum, Cryptorchidism, Hemivertebrae...	OMIM:151050
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Micrognathia, Hyd...	ORPHA:459061
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint laxity, Hydrocephalus	OMIM:236660
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Abnormal femur morphology, Upper limb asymmetry, Abnormal fibula morphology, Plagio...	ORPHA:2063
Lowry-Maclean Syndrome	Short nasal bridge, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia...	ORPHA:2409
20P13 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Highly arched eyebrow, Wide anterior fontanel, Synophrys, Narrow ...	ORPHA:313781
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nip...	ORPHA:1812
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Bul...	ORPHA:1237
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Micrognat...	OMIM:300749
Halperin-Birk Syndrome	Hearing impairment, Micrognathia, Inability to walk, Optic atrophy, Colpocephaly, Pseudobulbar pa...	OMIM:618651
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Secondary microcephaly, Abnormal...	ORPHA:485421
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Hemivertebrae, Cerebellar hypoplasia, Holoprosencephaly	OMIM:264480
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Lissencephaly 6 With Microcephaly	Anteverted nares, Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosu...	OMIM:616212
Fragile X Syndrome	Macroorchidism, postpubertal, Mandibular prognathia, Hyperactivity, Periventricular heterotopia, ...	OMIM:300624
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Short ...	OMIM:277450
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Posteriorly rotated ears, Anteverted nares, Aggressive behavior, Micrognathia, Bulbous no...	OMIM:619320
Ritscher-Schinzel Syndrome 1	Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus, B...	OMIM:220210
Pontocerebellar Hypoplasia Type 1	Degeneration of anterior horn cells, Cerebral cortical atrophy	ORPHA:2254
3Mc Syndrome 3	Highly arched eyebrow, Epicanthus inversus, Preaxial polydactyly, Facial cleft, Radioulnar synost...	OMIM:248340
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Telecanthus, Camptodactyly of finger, Tapered finger, Facial cleft, Broad ...	ORPHA:1236
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral cavernous malformation	OMIM:116860
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Carpenter Syndrome	Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ...	ORPHA:65759
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Craniosynostosis, Microcephaly, Patent ductus arteriosus, Plagiocephaly, Brach...	ORPHA:457193
Ck Syndrome	Hyperactivity, Posteriorly rotated ears, Prominent nasal bridge, Aggressive behavior, Micrognathi...	OMIM:300831
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Microphthalmia, Syndromic 6	Single transverse palmar crease, Micrognathia, Brachycephaly, Clinodactyly of the 5th finger, Fin...	OMIM:607932
Achondroplasia	Frontal bossing, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx ...	ORPHA:15
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, High, narrow palate, Hydrocephalus, Joint hyperflexibility, Shoulder dislocation,...	ORPHA:2181
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Dy...	OMIM:608091
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Dysplastic corpus callosum, Periventricular cysts, Thick corpus call...	ORPHA:544488
Limb Body Wall Complex	Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph...	ORPHA:2369
Alg12-Cdg	Ventriculomegaly, Overlapping fingers, Sandal gap, Ulnar deviation of the wrist, Proximal placeme...	ORPHA:79324
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t...	OMIM:260660
Glutamine Deficiency, Congenital	Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Subependymal cysts, Lateral ventricl...	OMIM:610015
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Cerebellar vermis hypo...	OMIM:619841
Stromme Syndrome	Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Intestinal malrota...	OMIM:243605
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Epicanthus, Single transverse palmar crease, Campto...	ORPHA:915
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Tip-toe gait, Difficulty walking, Pachygyria, Ventriculomegaly	ORPHA:370980
6P22 Microdeletion Syndrome	Clinodactyly, Finger syndactyly, Hydrocephalus, Patent ductus arteriosus	ORPHA:251046
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Ulnar deviation of the hand, Sandal gap, Micrognathia, Partial agen...	OMIM:619775
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Plagiocephaly, Abnormal cerebral white matter...	OMIM:615471
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Ch...	OMIM:101200
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Retinal pigment epithelial...	OMIM:614105
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Aymé-Gripp Syndrome	Rocker bottom foot, Craniosynostosis, Tapered finger, Hydrocephalus, Patent ductus arteriosus, Br...	ORPHA:1272
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia...	OMIM:219000
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Emanuel Syndrome	Broad jaw, Ventriculomegaly, Intestinal malrotation, Delayed eruption of primary teeth, Micrognat...	OMIM:609029
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Tethered cord, Kyphoscoliosis, Hype...	ORPHA:573278
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Lateral ventricle dilatation	OMIM:616816
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Hyd...	ORPHA:457284
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d...	OMIM:180750
Pettigrew Syndrome	Mandibular prognathia, Aggressive behavior, Aqueductal stenosis, Prominent nose, Hydrocephalus, S...	OMIM:304340
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Coxa valga, Hypoplasia of the maxilla, Hydrocephalus, Hip dislocation, Brachycephaly, Macrocephal...	OMIM:109120
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Microcephaly, Radial club hand, Holoprosencephaly, Abnormality...	ORPHA:2165
Radio-Tartaglia Syndrome	Micrognathia, High, narrow palate, High palate, Conductive hearing impairment, Agenesis of corpus...	OMIM:619312
Intellectual Developmental Disorder, X-Linked 12	Cryptorchidism, Sensorineural hearing impairment, Abnormality of neuronal migration, Gait disturb...	OMIM:300957
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent scrotal raphe...	ORPHA:1555
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Adenomatous colonic polyposis, Agenesis of corpus callosum, Colon cancer	OMIM:619101
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Anisospondyly	OMIM:224410
Trisomy 20P	Frontal bossing, Finger syndactyly, Camptodactyly of finger, Spina bifida, Micrognathia, Preaxial...	ORPHA:261318
X-Linked Parkinsonism-Spasticity Syndrome	Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Sirenomelia	Absence of the sacrum, Spina bifida, Sirenomelia	ORPHA:3169
Cornelia De Lange Syndrome 2	Limited elbow movement, Proximal placement of thumb, Microcephaly, Micrognathia, Small hand, Brac...	OMIM:300590
Developmental And Epileptic Encephalopathy 84	Plagiocephaly, Ventriculomegaly, Microcephaly	OMIM:618792
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation, Premature ovarian insufficiency, Ataxia	OMIM:615889
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Anteverted nares, Aggressive behavior, Micrognathia, Persistence of primary teeth,...	OMIM:618342
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Epicanthus, Broad long bones, Sparse eyelashes, Telecanthus, Fifth fin...	OMIM:257850
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ...	OMIM:156510
Linear Nevus Sebaceus Syndrome	Frontal bossing, Ventriculomegaly, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia...	ORPHA:2612
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Brachycephaly, Plagiocephaly, Toe clinodactyly, Clinodactyly of the 5th finger	OMIM:619910
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly	OMIM:615983
Carey-Fineman-Ziter Syndrome 1	Microcephaly, Tapered finger, Micrognathia, Trismus, Plagiocephaly, Hypoplasia of the brainstem, ...	OMIM:254940
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Progressive macrocephaly, Abnormal thalamic MRI signal intensity	ORPHA:309155
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, Arachnodactyly, Slender long bones with narrow diaphyses, Ace...	ORPHA:536467
Autosomal Recessive Multiple Pterygium Syndrome	Cryptorchidism, Vertebral segmentation defect, Hypogonadism, Scoliosis, Umbilical hernia, Spina b...	ORPHA:2990
Bainbridge-Ropers Syndrome	Micrognathia, High palate, Choanal stenosis, Abnormal repetitive mannerisms, Death in infancy, An...	OMIM:615485
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Micrognathia, Wrist swelling, Hypoplasia of the maxilla, Osteolysis ...	OMIM:166300
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H...	OMIM:612651
Tay-Sachs Disease	Cerebellar atrophy, Hypointensity of cerebral white matter on MRI, Progressive macrocephaly, Abno...	ORPHA:845
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Male pseudohermaphroditism, Wide nasal ...	ORPHA:2075
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneou...	OMIM:236500
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Bilateral coxa ...	ORPHA:439822
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bridge, Short n...	OMIM:616430
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Abnormal preputium morpho...	ORPHA:293725
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Hypoplasia of the maxilla, Malar flattening, Downslanted palpeb...	ORPHA:261295
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hypospadias, Prominent nasal bridge, Aggressive behavior, Micrognathia, Cryptorchidism, Patent du...	OMIM:618659
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
17Q21.31 Microduplication Syndrome	Short nose, Anteverted nares	ORPHA:217340
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re...	OMIM:620300
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes,...	ORPHA:228396
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hyd...	OMIM:601499
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Tethered cord, Ventriculomegaly, Moyamoya phenomenon	ORPHA:401986
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity	ORPHA:444013
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Micrognathia, Decreased head circumference, Brachycephaly, Shortening of a...	ORPHA:247262
Weill-Marchesani Syndrome 3	Joint stiffness, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Brachydactyly	OMIM:614819
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Thick nasal alae, Agenesis of corpus callosum, Spina bifida, Hyperlordosis, Cr...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Thick nasal alae, Agenesis of corpus callosum, Spina bifida, Hyperlordosis, Cr...	ORPHA:363958
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui...	ORPHA:99828
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Molar tooth sign on MRI, Agenesis of ...	OMIM:277170
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology	ORPHA:1145
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal...	OMIM:108721
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Abnormally ossified vertebrae, Micrognathia, Hydrocephalus, Opti...	ORPHA:3301
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Hypoplasia of ...	OMIM:101800
Vacterl/Vater Association	Occipital encephalocele, Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Ane...	ORPHA:887
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Pa...	OMIM:608328
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Micrognathia, Postaxial polydactyly, ...	OMIM:617866
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Patent ductus arteriosus after birth at term, Hypoplasia of the olfact...	ORPHA:251061
Larsen Syndrome	Vertebral fusion, Depressed nasal bridge, Cervical kyphosis, Spinal cord compression, Cryptorchid...	OMIM:150250
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta...	OMIM:300863
Hydrocephalus, Congenital, X-Linked	Thumb contracture, Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Co...	OMIM:307000
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Non-Distal Duplication 10Q	Depressed nasal bridge, Cryptorchidism, Scoliosis, Short nose, Convex nasal ridge	ORPHA:1695
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, 2-3 finger syndactyly, Curved distal phalanges of t...	ORPHA:3152
Brain Small Vessel Disease 2	Intracranial hemorrhage, Ventriculomegaly	OMIM:614483
Infantile Sialic Acid Storage Disease	Hydrocephalus, High palate, Anteverted nares, Death in childhood	OMIM:269920
Dworschak-Punetha Neurodevelopmental Syndrome	Dilation of Virchow-Robin spaces, Depressed nasal bridge, Short neck, Dysplastic corpus callosum,...	OMIM:619955
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callos...	ORPHA:2182
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Esopha...	ORPHA:77298
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short...	OMIM:170390
Crouzon Syndrome	Mandibular prognathia, Sagittal craniosynostosis, Keratitis, Hypoplasia of the maxilla, Hydroceph...	OMIM:123500
Fanconi Anemia, Complementation Group B	Death in infancy, Hypergonadotropic hypogonadism, Optic disc hypoplasia, Esophageal atresia, Hydr...	OMIM:300514
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Combined Oxidative Phosphorylation Defect Type 7	Abnormal cerebral white matter morphology, Abnormal thalamic MRI signal intensity, Hypoplasia of ...	ORPHA:254930
Abeta Amyloidosis, Dutch Type	Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100006
Van Esch-O'Driscoll Syndrome	Sacral dimple, Depressed nasal bridge, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, ...	OMIM:301030
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy...	ORPHA:1553
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Choanal atresia, Fused cervical vertebrae, Choanal stenosis, Sco...	OMIM:607323
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Neuronal loss in basal ganglia, ...	ORPHA:506
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:245
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Depressed nasal bridge, Micrognathia, Simplified gyral pattern, Lateral ventricle dilatation, Lis...	ORPHA:284417
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalang...	OMIM:615630
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Wide anterior fontanel, Hand polydactyly, Downslanted palpebral fissure...	OMIM:239710
Dubowitz Syndrome	Sacral dimple, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Wide anterior fontanel, Sco...	ORPHA:235
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microretrognathia, Broad hallux, Deviation of the hallux, Microcephaly,...	ORPHA:434179
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, S...	ORPHA:93323
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Later...	OMIM:619517
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
7Q11.23 Microduplication Syndrome	Micrognathia, Simplified gyral pattern, Dysmetria, Abnormal optic disc morphology, High palate, A...	ORPHA:96121
Holoprosencephaly 9	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypoplasia ...	OMIM:610829
Hydranencephaly	Ventriculomegaly, Optic nerve hypoplasia, Thalamic edema, Cerebral cortical atrophy, Primary micr...	ORPHA:2177
9Q33.3Q34.11 Microdeletion Syndrome	Single transverse palmar crease, Microcephaly, Patent ductus arteriosus, Patellar aplasia, Brachy...	ORPHA:495818
Trichohepatoneurodevelopmental Syndrome	Overlapping toe, Microcephaly, Patent ductus arteriosus, Hip dislocation, Brachycephaly, Cerebral...	OMIM:618268
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Pyloric stenosis, Dental malocclusion, High palate, Dandy-Walker m...	OMIM:310400
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Cerebellar atrophy, Microcephaly, Tapered finger, Brachycephaly, Neuro...	OMIM:301072
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Protruding tongue, Hydrocephalus, Cherry red ...	ORPHA:93400
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Flat occiput, Microcephaly, Abnormal thumb morphology, Abno...	ORPHA:2511
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Death in infancy, Lateral ventricle dilatation, Simplified gyral pattern	OMIM:617668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Van Maldergem Syndrome 1	Short fourth metatarsal, Epicanthus, Micrognathia, Hypoplasia of the maxilla, Wide anterior fonta...	OMIM:601390
Cleidocranial Dysplasia	Abnormal sacrum morphology, Spina bifida occulta, Depressed nasal bridge, Scoliosis	ORPHA:1452
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Micro...	OMIM:615656
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Ataxia, Impulsivity, Inability to walk, Sensorineural hearing impairment, Protr...	OMIM:617854
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly, Tapered finger, Brachydactyly, Microcephaly	OMIM:619680
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Wide nasal brid...	OMIM:300373
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Sacral dimple, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, ...	OMIM:619995
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Antenatal intracerebral hemorrhage, Bulbous nose, Dilated cardiomyopathy, Nasal...	OMIM:608836
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Aggressive behavior, Lateral ventricle dilatation, Inappropriate behavior, Disinhibition, Gait di...	OMIM:221770
Rabin-Pappas Syndrome	Mandibular prognathia, Retinal detachment, Cataract, Optic nerve hypoplasia, Micrognathia, Retina...	OMIM:620155
Turnpenny-Fry Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Prominent interphalangeal joi...	OMIM:618371
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f...	OMIM:600384
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Micrognathia, Anteriorly placed anus, High palate, Advanced eruption of teeth, Age...	OMIM:619148
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Microcephaly, Slender finger, Abnormal ce...	ORPHA:1449
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Epicanthus, Micrognathia, Hypoplasia of the...	OMIM:615546
Au-Kline Syndrome	Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial polydactyly, Coxa valga, ...	OMIM:616580
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit...	ORPHA:3000
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Fetal Gaucher Disease	Death in infancy, Depressed nasal bridge, Anteverted nares, Intracranial hemorrhage, Stillbirth, ...	ORPHA:85212
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Hyperactivity, Wide nose, Abnormal pinna morphology, Anteverted nares,...	OMIM:614607
Leopard Syndrome 1	Bundle branch block, Kyphoscoliosis, Short neck, Cryptorchidism, Depressed nasal ridge, Hypertrop...	OMIM:151100
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, High palate, Pachygyria, Agenesis of corpus callosum, Death in infancy, Hypospadias...	OMIM:614866
Pontocerebellar Hypoplasia, Type 12	Death in infancy, Lateral ventricle dilatation, Micrognathia	OMIM:618266
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, H...	OMIM:259700
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Elbow dislocation, Postaxial hand polyd...	ORPHA:2916
Vacterl With Hydrocephalus	Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hemivertebrae, Abnormal ...	ORPHA:3412
Trisomy 17P	Hypoplasia of penis, Wide nose, Micrognathia, Prominent nose, Patent ductus arteriosus, Hydroceph...	ORPHA:261290
Acrodysostosis	Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r...	ORPHA:950
Nasu-Hakola Disease	Hydrocephalus, Bone cyst, Limitation of joint mobility, Reduced bone mineral density, Abnormal ep...	ORPHA:2770
Symmetrical Thalamic Calcifications	Ataxia, Abnormality of neuronal migration	ORPHA:1314
Aicardi Syndrome	Retinal detachment, Prominence of the premaxilla, Anteverted nares, Spina bifida, Hiatus hernia, ...	OMIM:304050
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Clinoda...	OMIM:610023
Proteus-Like Syndrome	Mandibular prognathia, Communicating hydrocephalus, Retinal detachment, Cataract, Abnormal pupil ...	ORPHA:2969
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Desmosterolosis	Hypoplastic nasal bridge, Posteriorly rotated ears, Anteverted nares, Micrognathia, Patent ductus...	OMIM:602398
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Scoliosis, Aplasia/Hypoplas...	ORPHA:1454
Histiocytoid Cardiomyopathy	Corneal opacity, Hydrocephalus, Optic atrophy, Cleft palate, Microphthalmia, Megalocornea, Agenes...	ORPHA:137675
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Peripheral pulmonary artery stenosis, Wide nose, Depressed nasal bridge, Broad nasal tip, Valvula...	OMIM:300707
Ane Syndrome	Motor neuron atrophy	ORPHA:157954
Orofaciodigital Syndrome Xvi	Ataxia, Depressed nasal bridge, Hamartoma of tongue, Inability to walk, Gray matter heterotopia, ...	OMIM:617563
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Microcephaly, Micrognathia, Patent ductus arteriosus, Pre...	OMIM:618142
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Wide anterior fontanel, Epicanthus, Hydrocephalus	OMIM:614886
6Q Terminal Deletion Syndrome	Hallux valgus, Dolichocephaly, Micrognathia, Macrocephaly, Plagiocephaly, Abnormal cerebral white...	ORPHA:75857
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid...	ORPHA:93357
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Natal tooth, Hypospadias, Posteriorly rotated ears, Anteverted nares, Depressed na...	OMIM:123790
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Truncal ...	OMIM:618273
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Congenital hip dislocation, Micrognathia, Fractures of the long bones, Plagio...	ORPHA:496641
Coffin-Lowry Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Wide nose, Death in early adultho...	ORPHA:192
Isolated Hemihyperplasia	Cryptorchidism, Myelomeningocele	ORPHA:2128
Rubinstein-Taybi Syndrome 1	Spina bifida, Prominent nose, Bilateral cryptorchidism, Cryptorchidism, Wide anterior fontanel, R...	OMIM:180849
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Joint stiff...	ORPHA:585
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Increased CSF lactate, Latera...	ORPHA:79243
Lateral Meningocele Syndrome	Posteriorly rotated ears, Abnormality of the middle ear ossicles, Micrognathia, Cryptorchidism, P...	OMIM:130720
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Aplastic clavicle, Postaxial polydactyly, Hamartoma of tongue, Hydrocephalus, Anencep...	OMIM:616546
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Ataxia, Periventricular heterotopia, Hydrocephalus, Bulbous nose, Optic atrophy...	OMIM:618476
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli...	OMIM:603546
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Talipes equinovarus, Short pa...	ORPHA:85279
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Death in infancy, Abnormal cortical gyration, Postaxial polydactyly, Microcep...	OMIM:614576
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Cataract, Toe syndactyly, Hydrocephalus, Patent ductus arteriosus, Short fo...	ORPHA:250989
Chromosome 6Q24-Q25 Deletion Syndrome	Anteverted nares, High, narrow palate, Patent ductus arteriosus, Hydrocephalus, Cupped ear, Submu...	OMIM:612863
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Short columella, Short nose, Patchy distortion of ver...	OMIM:155050
Primary Ciliary Dyskinesia	Male infertility, Nasal polyposis, Intestinal malrotation, Female infertility, Hydrocephalus, Nas...	ORPHA:244
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Orofaciodigital Syndrome I	Porencephalic cyst, Agenesis of corpus callosum, Microretrognathia, Syndactyly, Myelomeningocele,...	OMIM:311200
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo...	ORPHA:465
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia	OMIM:619562
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Plagiocephaly,...	ORPHA:2021
Jacobsen Syndrome	Death in infancy, Anteverted nares, Spina bifida, Short neck, Cryptorchidism, Wide nasal bridge, ...	ORPHA:2308
Optic Pathway Glioma	Precocious puberty, Papilledema, Hydrocephalus, Optic atrophy	ORPHA:2086
Holoprosencephaly	Encephalocele, Short neck, Hydrocephalus, Spinal cord tumor, Abnormal form of the vertebral bodie...	ORPHA:2162
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Epicanthus, Osteolysis involving bones of the upper limbs, Osteolysis involving bones...	ORPHA:88630
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Degeneration of anterior horn cells, ...	ORPHA:276244
Idiopathic Camptocormia	Cerebral atrophy, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis	ORPHA:1320
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, 2-3 toe syndactyly, Plagiocephaly, Increased car...	OMIM:261990
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Hyperactivity, Small scrotum, Prominent nose, Long nose, Cryptorchidism, G...	OMIM:300486
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:96334
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Shprintzen-Goldberg Craniosynostosis Syndrome	Ptosis, Telecanthus, Arachnodactyly, Micrognathia, Metatarsus adductus, Wide anterior fontanel, M...	OMIM:182212
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Cataract, Congenital hip dislocation, Joint hypermobility, Dec...	OMIM:616007
Paternal Uniparental Disomy Of Chromosome 5	Abnormal fibular epiphysis morphology, Posterior plagiocephaly, Rhizomelic arm shortening, Short ...	ORPHA:96190
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Simplified gyral pattern, Microphallus, Pachygyria, Abnormal repetitive mannerisms, Agenesis of c...	ORPHA:468631
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Meningocele, Prot...	ORPHA:2031
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity, Abnormal cerebellar cortex morphology	ORPHA:70595
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Degeneration of anterior horn cells, Axonal degeneration	OMIM:604320
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Micrognathia, Partial agenesis of the corpus callosum, Holoprosence...	OMIM:270400
Aicardi Syndrome	Prominence of the premaxilla, Microcephaly, Partial agenesis of the corpus callosum, Small hand, ...	ORPHA:50
Cog5-Cdg	Posteriorly rotated ears, Prominent nose, Cryptorchidism, Sensorineural hearing impairment, Wide ...	ORPHA:263487
Rhiny	Short nose, Anteverted nares	OMIM:180360
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx,...	OMIM:601707
Acys Amyloidosis	Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Hearing impairment, Alobar holoprosencephaly, Micr...	OMIM:301043
Duane Retraction Syndrome	Anteverted nares, Short neck, Wide nasal bridge, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:233
Distal Triplication 15Q	Abnormal external genitalia, Micrognathia, Hydrocephalus, Patent ductus arteriosus, Cupped ear, S...	ORPHA:314588
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Ventriculomegaly, Wide nose, Hypospadias, Posteriorly rotated ears, Anteverted nar...	OMIM:257300
Achondroplasia	Frontal bossing, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Death in infancy, Megalen...	OMIM:100800
Peroxisome Biogenesis Disorder 1A (Zellweger)	Micrognathia, High, narrow palate, Subependymal cysts, High palate, Death in childhood, Loss of a...	OMIM:214100
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Summitt Syndrome	Syndactyly, Oxycephaly, Craniosynostosis	OMIM:272350
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Joubert Syndrome 8	Occipital encephalocele	OMIM:612291
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Postaxial polydactyly, Megalencephaly, Hydrocephalus, Thick corpus callosum, Hyp...	OMIM:603387
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Stillbirth, Anal atresia	OMIM:276950
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Abnormal periventricular white matter morphology, Dilated third ventricle, Microcephaly	OMIM:619725
Smith-Magenis Syndrome	Mandibular prognathia, Retinal detachment, Hyperactivity, Velopharyngeal insufficiency, Self hugg...	OMIM:182290
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Scoliosis	OMIM:618379
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h...	ORPHA:93258
Prader-Willi Syndrome Due To Translocation	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, External ge...	ORPHA:177907
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Hyperactivity, Uplifted earlobe, Impulsivity, Macroorchidism, Short nose	OMIM:300143
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus c...	OMIM:615599
Weill-Marchesani Syndrome 1	Thin bony cortex, Cataract, Ectopia lentis, Hypoplasia of the maxilla, Joint stiffness, Patent du...	OMIM:277600
Gracile Bone Dysplasia	Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Decreased skull os...	OMIM:602361
Camptodactyly Syndrome, Guadalajara Type 3	Broad nasal tip, Short neck, Depressed nasal tip, Wide nasal base, Spina bifida occulta, Broad co...	ORPHA:488434
Atelosteogenesis, Type I	Encephalocele, Short neck, Thoracic platyspondyly, Fused cervical vertebrae, Coronal cleft verteb...	OMIM:108720
Stankiewicz-Isidor Syndrome	Hyperactivity, Hypospadias, Micrognathia, Prominent nose, Cryptorchidism, Patent ductus arteriosu...	OMIM:617516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia, Polymicrogyria, Agyria, ...	OMIM:616538
Pontocerebellar Hypoplasia, Type 13	Anteverted nares, Inability to walk, Volvulus, Gait ataxia, Lateral ventricle dilatation, High pa...	OMIM:618606
Incontinentia Pigmenti	Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Pulmonary arterial hype...	ORPHA:464
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Hydrocephalus, Patent ductus arteriosus, High palate, Camptoda...	OMIM:614846
Hemophilia B	Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometrorrhagia, Prolonged bleeding a...	ORPHA:98879
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Microcephaly, Brachycephaly, Plagiocephaly, Retrognathia, Midface retrusion	OMIM:618644
Melanosis, Neurocutaneous	Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hydrocephalus, Cleft palate, Hypoplasia of the uterus, Pigmentary retinop...	OMIM:309801
Weiss-Kruszka Syndrome	Anteverted nares, Hearing impairment, Cupped ear, Short nose, Protruding ear, Colpocephaly, Micro...	OMIM:618619
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Spars...	ORPHA:178303
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious c...	OMIM:608154
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Spastic gait, Difficulty walking	ORPHA:401815
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Holoprosencephaly 14	Ventriculomegaly, Anteverted nares, Proboscis, Periventricular heterotopia, Aqueductal stenosis, ...	OMIM:619895
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Hydrocephalus, Ulnar...	OMIM:207410
Meckel Syndrome	Anophthalmia, Sclerocornea, Micrognathia, Microcornea, Dandy-Walker malformation, Encephalocele, ...	ORPHA:564
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Short nose, Anteverted nares, Short neck	ORPHA:1832
3Mc Syndrome 1	Conjunctival telangiectasia, Sacral dimple, Wide anterior fontanel, Patent ductus arteriosus, Spi...	OMIM:257920
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Epicanthus, Congenital hip dislocation, Deviation of finger, Malar ...	ORPHA:2412
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor...	ORPHA:314585
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Upslanted palpebral fissure, Hypoplasia of the maxilla, Synophrys, Thick eyebrow	OMIM:618737
Even-Plus Syndrome	Short neck, Bifid nasal tip, Dysplastic corpus callosum, Vertebral clefting, Depressed nasal ridg...	OMIM:616854
Neu-Laxova Syndrome 1	Ventriculomegaly, Wide nose, Spina bifida, Short neck, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:256520
Monosomy 18Q	Mandibular prognathia, Depressed nasal bridge, Abnormal retinal morphology, Prominent nose, Bilat...	ORPHA:1600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Posteriorly rotated ears, Depressed nasal bridge, Supernumerary nipple, Micrognathia, Prominent n...	OMIM:619951
Orofaciodigital Syndrome Type 6	Frontal bossing, Syndactyly, Cerebellar vermis hypoplasia, Mesoaxial polydactyly, Micrognathia, C...	ORPHA:2754
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ...	OMIM:619055
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Ventriculomegaly, Heari...	ORPHA:457260
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto...	ORPHA:3306
Knobloch Syndrome	Occipital encephalocele, Retinal detachment, Cataract, Ectopia lentis, Pyloric stenosis, Hydrocep...	ORPHA:1571
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Advanced eruption...	OMIM:614753
Peho-Like Syndrome	Short nose, Ventriculomegaly	OMIM:617507
Tetrasomy 5P	Pericallosal lipoma, Overlapping toe, Short hallux, Micrognathia, Long fingers, Hydrocephalus, Wi...	ORPHA:3309
Cerebrocostomandibular Syndrome	Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Hydranencephaly	ORPHA:1393
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Gray matter heter...	OMIM:615960
Knobloch Syndrome 1	Occipital encephalocele, Depressed nasal bridge, Bulbous nose, Patent ductus arteriosus, Occipita...	OMIM:267750
X-Linked Intellectual Disability, Sutherland-Haan Type	Upslanted palpebral fissure, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93950
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Chromosome 6Q11-Q14 Deletion Syndrome	Sacral dimple, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Short neck, Umb...	OMIM:613544
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Intestinal ma...	ORPHA:2166
17P13.3 Microduplication Syndrome	Wide nose, Short nose, Ventriculomegaly, Short neck	ORPHA:217385
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Wide nose, Micrognathia, Cryptorchidism, Patent ductus ...	ORPHA:261337
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Ventriculo...	OMIM:605627
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge, Dandy-Walker malformation	ORPHA:438178
Mend Syndrome	Microretrognathia, Hyperactivity, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia,...	OMIM:300960
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial...	ORPHA:449285
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Corneal opacity, Craniosynostosis, Micrognathia, Developmental glauc...	ORPHA:1064
Spondyloepimetaphyseal Dysplasia, Krakow Type	Frontal bossing, Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, Patent ductus arteriosu...	OMIM:618162
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Postaxial polydacty...	OMIM:615986
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Tethered cord, Butterfly vertebrae, Spinal dysraphism	OMIM:617660
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Foot oligodactyly, Triphalang...	OMIM:154400
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus, Optic atrophy	OMIM:245200
Basal Cell Nevus Syndrome 1	Vertebral fusion, Spina bifida, Kyphoscoliosis, Hydrocephalus, Hemivertebrae, Vertebral wedging, ...	OMIM:109400
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Cleft palate, Talipes equinovarus, Slender finger, Dandy-Walk...	OMIM:147800
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Shoulder dislocation, Dislocated radial head, Microretrognathia, Rhizom...	OMIM:245600
Multiple Sulfatase Deficiency	Ventriculomegaly, Broad hallux, Corneal opacity, Hydrocephalus, Increased CSF protein concentrati...	OMIM:272200
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Umbilical hernia, Microcephaly	OMIM:616579
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Abnormal pinna morphology, Micrognathia, Recurrent upper respiratory tr...	ORPHA:3078
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Rhizomelia, Megalencephaly, Wide anterior fontanel, Hydrocephalus, Femoral bowin...	OMIM:616482
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Broad nasal tip, Patent ductus arteriosus, Wide nasal bridge, Cardiomyopath...	OMIM:135500
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Proximal placement of...	ORPHA:139471
Microgastria-Limb Reduction Defect Syndrome	Frontal bossing, Abnormal morphology of the radius, Absent septum pellucidum, Abnormal cortical g...	ORPHA:2538
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Cole-Carpenter Syndrome 2	Microretrognathia, Frontal bossing, Turricephaly, Hydrocephalus, Dentinogenesis imperfecta, Lambd...	OMIM:616294
Moebius Syndrome	Syndactyly, Brachydactyly, Epicanthus, Micrognathia, Split hand, Congenital fibrosis of extraocul...	OMIM:157900
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2512
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Gastrointestinal angi...	ORPHA:99147
Gabriele-De Vries Syndrome	Waddling gait, Posteriorly rotated ears, Micrognathia, Broad nasal tip, Cryptorchidism, Lateral v...	OMIM:617557
Isolated Posterior Meningocele	Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t...	ORPHA:268810
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Depressed nasal bridge, Anteverted nares, Increased intervertebral s...	OMIM:618961
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal...	ORPHA:2980
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares	ORPHA:1450
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno...	OMIM:616914
Aceruloplasminemia	Abnormal thalamic MRI signal intensity, Abnormal corpus striatum morphology, Abnormal dentate nuc...	ORPHA:48818
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly, Single transverse palmar crease, Microcephaly	OMIM:618106
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Maxillonasal Dysplasia	Depressed nasal bridge, Vertebral clefting, Depressed nasal ridge, Short columella, Scoliosis, Ab...	ORPHA:1248
Cranioectodermal Dysplasia 2	Frontal bossing, Syndactyly, Cloverleaf skull, Rhizomelia, Craniosynostosis, Dolichocephaly, Micr...	OMIM:613610
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cataract, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification,...	ORPHA:93271
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Intestinal malrotation, Micrognathia, Hydrocephalus, High palate, Agenesis...	ORPHA:238769
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Turricephaly, Agenesis of cerebellar vermis, Cerebellar ver...	OMIM:601853
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2370
Holoprosencephaly 1	Cerebellar hypoplasia, Ethmocephaly, Facial cleft, Alobar holoprosencephaly	OMIM:236100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Brachycephaly, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnor...	ORPHA:95699
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Abnormal eyelid morphology, Carious teeth, Ectropion of lower eyelids, Euryble...	ORPHA:1997
Ventriculomegaly With Defects Of The Radius And Kidney	Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hyperactivity, Hypospadias, Depressed nasal bridge, Cryptorchidism, Gait dis...	ORPHA:457485
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Posteriorly rotated ears, Long nose, Patent ductus arteriosus, Partial agenesis of the corpus cal...	OMIM:620113
Mend Syndrome	Hyperactivity, Prominent nasal bridge, Abnormal auditory evoked potentials, Aggressive behavior, ...	ORPHA:401973
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Epispadias, Partial agenesis of the corpus callosum, Simpl...	OMIM:615948
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Anteverted nares, Sensori...	ORPHA:44
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation, Brachycephaly, Talipes equinovarus	OMIM:619972
Peho Syndrome	Cerebellar atrophy, Microcephaly, Tapered finger, Hydrocephalus, Porencephalic cyst, Biparietal n...	ORPHA:2836
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Thoracic scoliosis, Cervical hemivertebrae, Spina bifida, Short neck, Wide ...	ORPHA:508498
Meckel Syndrome 14	Occipital encephalocele, Holoprosencephaly, Short neck	OMIM:619879
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Blepharocheilodontic Syndrome 1	Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Neural tube defect, Euryblepharo...	OMIM:119580
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia...	OMIM:620073
Helsmoortel-Van Der Aa Syndrome	Short lower limbs, Decreased response to growth hormone stimulation test, Sandal gap, Broad hallu...	OMIM:615873
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Short nose, Ventriculomegaly	ORPHA:1495
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis	ORPHA:600
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Anteverted nares, Depressed nasal bridge, Asymmetry of the ears, Prominent nose, B...	OMIM:617796
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Depressed nasal bridge, Aggressive behavior, Sensorineural hearing impairment, Sel...	OMIM:620075
Pierpont Syndrome	Wide nose, Short neck, Broad nasal tip, Cryptorchidism, Scoliosis, Short nose	OMIM:602342
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Wide anterior fontanel, Upsla...	OMIM:300963
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Type II lissencephaly, Micrognathia, Pachygyria, Hydrocephalus, Optic ...	OMIM:253280
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Macrotia, Optic atrophy...	OMIM:617281
Phakomatosis Pigmentokeratotica	Spina bifida, Raynaud phenomenon, Cryptorchidism, Scoliosis, Arrhythmia	ORPHA:2874
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Depressed nasal bridge, High, narrow palate, Hydrocephalus, Sensorineural hearing impairment, Hea...	OMIM:619575
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p...	ORPHA:2495
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital kyphoscoliosis, Kyphoscoliosis, Cerebral hemorrhage, Atlantoaxial instability, Subdura...	ORPHA:536545
Alg2-Cdg	Lateral ventricle dilatation, Wide nasal bridge	ORPHA:79326
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger	ORPHA:2776
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Microcephaly, Brachycephaly, Thick corpus callosum, Genu valgum, Posterior plagiocep...	OMIM:617798
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Relative macrocephaly, Frontal bossing, Hallux valgus, Anterior pituitary hypoplasia, Dysplastic ...	ORPHA:466791
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	ORPHA:300605
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
Cohen Syndrome	Short metacarpal, Single transverse palmar crease, Tapered finger, Micrognathia, Hypoplasia of th...	OMIM:216550
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Adducted thumb	ORPHA:275543
Arboleda-Tham Syndrome	Microretrognathia, Frontal bossing, Brachydactyly, Mandibular prognathia, Sandal gap, Deviation o...	OMIM:616268
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Tarsal synostosis, Aplastic clavicle, Micrognathia, Parietal foramina, Abnormal ...	ORPHA:85199
Hallermann-Streiff Syndrome	Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Hyperlordosis, Cryptorchidism, T...	OMIM:234100
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Osteopenia, Recurrent fractures, Micrognathia, Hydrocephalus, Reduce...	OMIM:112240
Koolen-De Vries Syndrome	Hyperactivity, Prominent nasal bridge, Impulsivity, Anteverted ears, Cryptorchidism, Patent ductu...	OMIM:610443
Osteogenesis Imperfecta	Aortic regurgitation, Cervical kyphosis, Cerebral hemorrhage, Kyphosis, Hydrocephalus, Vertebral ...	ORPHA:666
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Scoliosis	ORPHA:306669
Pseudo-Torch Syndrome 3	Death in infancy, Hypertension, Cerebral hemorrhage	OMIM:618886
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Micrognathia, Increased femoral anteversion, Plagiocephaly, Death in childhood, ...	OMIM:619005
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Optic atrophy, Colpocephaly, Low-set ears, Choking episodes, Agenesis of corpu...	OMIM:620352
Cri-Du-Chat Syndrome	Microretrognathia, Hyperactivity, Hypospadias, Abnormal pinna morphology, Hearing impairment, Agg...	OMIM:123450
Congenital Disorder Of Glycosylation, Type Iig	Hypospadias, Posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal...	OMIM:611209
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Ptosis, Telecanthus, Proximal placement of thumb, Micrognathia, Wide anterior fontane...	OMIM:217980
Fg Syndrome 3	Death in infancy, Hyperactivity, Cryptorchidism, Pyloric stenosis, Sensorineural hearing impairme...	OMIM:300406
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Ataxia, Aggressive behavior, Wide nasal bridge, Dysmetria, Athetosis, L...	ORPHA:572798
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation, Mandibular prognathia	ORPHA:85290
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Decreased response to growth...	OMIM:146510
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip	OMIM:613670
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Short nose, Depressed nasal bridge	ORPHA:261120
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S...	OMIM:218600
Trisomy 18	Choanal atresia, Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Short nose	ORPHA:3380
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco...	ORPHA:1946
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Abnormal eyelid morphology, Abnorm...	ORPHA:193
Hypomelanosis Of Ito	Syndactyly, Cataract, Gray matter heterotopia, Hand polydactyly, Radial deviation of finger, Clin...	OMIM:300337
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells	OMIM:271225
Hurler Syndrome	Corneal opacity, Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hydrocephalus, Meta...	OMIM:607014
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Rod-cone dystrophy, Retinal degeneration, Brachydactyly	OMIM:615982
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Coffin-Siris Syndrome 1	Single transverse palmar crease, Partial agenesis of the corpus callosum, Brachycephaly, Prominen...	OMIM:135900
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cryptorchidism, Sensorineural hearing impairment, Death in childhood, Lateral ventricle dilatatio...	OMIM:619847
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Tongue thrusting	ORPHA:77299
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Trisomy 8Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Cryptorchidism, Myelomening...	ORPHA:1752
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in infancy, Thoracic scoliosis, Cerebral hemorrhage, Subdural hemorrhage, Death in childhood	OMIM:620278
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Microcephaly, Brachycephaly, Coxa vara, 2-3 toe synd...	OMIM:614701
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit...	OMIM:620141
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Primary Angiitis Of The Central Nervous System	Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis	ORPHA:140989
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Frontal bossing, Reduced cerebral white matter volume, Broad 2nd toe, ...	OMIM:280000
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Multiple pterygia, Micrognathia	OMIM:601809
Marshall-Smith Syndrome	Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, High palate, Choanal stenosis, De...	OMIM:602535
Cerebrofacioarticular Syndrome	Anal stenosis, Hypospadias, Ataxia, Micrognathia, Hypoplasia of the maxilla, Dysplastic corpus ca...	ORPHA:314679
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly	ORPHA:1445
Joubert Syndrome 30	Gray matter heterotopia, Dandy-Walker malformation, Retinal dystrophy, Ventriculomegaly	OMIM:617622
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Upsl...	ORPHA:79113
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida, Broad nasal tip, Partial agenesis of the corpus callosum, Patent duc...	OMIM:619480
Verheij Syndrome	Branchial cyst, Vertebral fusion, Anteverted nares, Truncus arteriosus, Broad nasal tip, Short ne...	OMIM:615583
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Ataxia, Decreased fertility in females, Crypto...	ORPHA:79239
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Patent ...	OMIM:618870
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Microcephaly, Hydrocephalus, Chiari type I malformation, Chromoso...	OMIM:617244
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Sudden cardiac death, Meningocele, Pulmonary arter...	ORPHA:991
Jacobsen Syndrome	Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Hydrocephalu...	OMIM:147791
Galloway-Mowat Syndrome	Hiatus hernia, Aqueductal stenosis, Pachygyria, Micrognathia, Abnormality of neuronal migration, ...	ORPHA:2065
Gapo Syndrome	Frontal bossing, Micrognathia, Wide anterior fontanel, Plagiocephaly, Eruption failure, Umbilical...	OMIM:230740
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Malar flattening, Micrognathia, Hypoplasia of t...	OMIM:212780
Weaver Syndrome	Mandibular prognathia, Depressed nasal bridge, Cryptorchidism, Patent ductus arteriosus, Retrogna...	OMIM:277590
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Diamond-Blackfan Anemia 1	Tricuspid stenosis, Short neck, Congestive heart failure, Depressed nasal ridge, Hypoplastic sacr...	OMIM:105650
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Ptosis, Single transverse palmar crease, Hyp...	OMIM:305400
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Shallow orb...	OMIM:166250
Methylcobalamin Deficiency Type Cble	Syndactyly, Hydrocephalus, Osteoporosis, Hypoplasia of the brainstem, Clinodactyly, Ventriculomegaly	ORPHA:2169
Tetrasomy 9P	Micrognathia, Inappropriate behavior, High palate, Micropenis, Pachygyria, Bifid uvula, Dandy-Wal...	ORPHA:3310
Mirage Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Intracra...	OMIM:617053
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Ataxia, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilateral cleft lip an...	ORPHA:2003
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias, Anal atresia	OMIM:312190
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, High palate,...	OMIM:251750
Waardenburg Syndrome, Type 1	Spina bifida, Underdeveloped nasal alae, Myelomeningocele, Wide nasal bridge, Supernumerary verte...	OMIM:193500
Hypophosphatasia, Infantile	Death in infancy, Vertebral clefting, Intracranial hemorrhage, Platyspondyly, Stillbirth, Unossif...	OMIM:241500
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Scoliosis	OMIM:618218
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, 2-3 toe syndactyly, Ptosis	OMIM:218000
Peters Plus Syndrome	Sacral dimple, Anteverted nares, Depressed nasal bridge, Short neck, Cryptorchidism, Hydrocephalu...	ORPHA:709
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Lhermitte-Duclos Disease	Ataxia, Hydrocephalus, Ovarian neoplasm, Macroglossia, Polymicrogyria	ORPHA:65285
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Cerebral cortical atrophy	OMIM:606353
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Tenorio Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Hydrocephalus, Macroglossia, Gait disturbance...	OMIM:616260
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Parkes Weber Syndrome	Back pain, Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformati...	ORPHA:90307
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, Hamartoma of...	OMIM:269860
Nephronophthisis 18	Hydrocephalus, Retinitis	OMIM:615862
Seckel Syndrome 1	Hyperactivity, Hypospadias, Abnormal pinna morphology, Micrognathia, Prominent nose, Cryptorchidi...	OMIM:210600
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Partial ...	OMIM:210710
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Dilated fourth ventricle, Retrocerebel...	OMIM:614831
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp...	ORPHA:485405
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Upslanted palpebral fissure, Clinodactyly, Retrognathia	OMIM:619092
Focal Dermal Hypoplasia	Narrow nasal bridge, Cleft ala nasi, Broad nasal tip, Cryptorchidism, Hydrocephalus, Myelomeningo...	OMIM:305600
Williams Syndrome	Myocardial infarction, Abnormal cerebral vascular morphology, Abnormal form of the vertebral bodi...	ORPHA:904
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Anteverted nares, Micrognathia, Gray matter heterotopia, Macrotia	OMIM:619694
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary...	ORPHA:208447
Hec Syndrome	Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele	ORPHA:2119
Acrocephalopolydactyly	Short nose, Depressed nasal ridge, Short neck	ORPHA:221054
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Intestinal pseudo-ob...	OMIM:309900
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Micrognathia, Hydrocephalus, Cranial hyperosto...	OMIM:259720
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Abnormal neuron morphology, Abnor...	ORPHA:163681
Townes-Brocks Syndrome 2	Spina bifida occulta, Scoliosis	OMIM:617466
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Developmental cataract	OMIM:600559
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Short neck, Hypertension, ...	OMIM:613320
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Aplastic zygomatic arch, Micrognathia, Hypoplasia of the maxilla, Lower eyelid colobo...	OMIM:616462
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Short nose, Scoliosis	ORPHA:2429
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Lobulated tongue, Molar tooth sign on MRI, Agenesis of cor...	OMIM:249000
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperactivity, Prominent nasal bridge, Aggressive behavior, Micrognathia, Hy...	OMIM:309520
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Sparse eyebrow, Abnormal eyelash morphology, Hypoplasia of the m...	ORPHA:2399
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:616300
Cutis Laxa, Autosomal Recessive, Type Iib	Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Microcephaly, Hydrocephalu...	OMIM:612940
Fraser Syndrome 3	Hypoplasia of penis, Small scrotum, Wide nose, Micrognathia, Hydrocephalus, Stillbirth, Low-set e...	OMIM:617667
Baraitser-Winter Syndrome 1	Anteverted nares, Short neck, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Aortic...	OMIM:243310
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Cleft palate, Anotia, Microtia	OMIM:243440
Frontometaphyseal Dysplasia	Fused cervical vertebrae, Spina bifida occulta, Wide nasal bridge, Scoliosis	ORPHA:1826
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Cerebral atrophy	OMIM:611890
Fanconi Anemia, Complementation Group L	Micrognathia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Wide na...	OMIM:614083
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Hypospadias, Prominent nasal bridge, Cryptorchidism, Paten...	ORPHA:464311
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Scoliosis, Spinal dysraphism	OMIM:612918
Doors Syndrome	Abnormal finger morphology, Brachycephaly, Triphalangeal thumb, Clinodactyly of the 5th finger, S...	ORPHA:79500
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Short nose, Tetralogy of Fallot, Agenesis of corpus callosum	OMIM:300887
Houge-Janssens Syndrome 1	Pyloric stenosis, Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia	ORPHA:276183
Holoprosencephaly 2	Median cleft lip and palate, Aplasia of the premaxilla, Remnants of the hyaloid vascular system, ...	OMIM:157170
Vici Syndrome	Abnormality of retinal pigmentation, Death in infancy, Sensorineural hearing impairment, Optic at...	ORPHA:1493
Frontofacionasal Dysplasia	Telecanthus, Ankyloblepharon, Cranium bifidum occultum, Eyelid coloboma, S-shaped palpebral fissu...	OMIM:229400
Microform Holoprosencephaly	Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Holoprosencephaly, Sco...	ORPHA:280200
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation of fin...	ORPHA:1101
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Ep...	ORPHA:783
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Highly arched eyebrow, Genu varum, Hip dislocation, Deep palmar crease, Long eyelashe...	OMIM:619451
Cerebral Visual Impairment	Intracranial hemorrhage, Hydrocephalus, Ischemic stroke	ORPHA:447788
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ...	OMIM:600920
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia	OMIM:615771
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Elongated superior cerebellar peduncle	OMIM:615636
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia, Death in infancy	OMIM:226700
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Cryptorchidism, Increased CSF lactate, Lateral ventricle dilatation, Tip-toe g...	ORPHA:565624
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Wide anterior fontanel, Ventriculomegaly, Micrognathia	OMIM:618548
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Wide nose, Patent ductus arteriosus, Long nose	ORPHA:2184
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Ovoid vertebral bodies, Short nose	ORPHA:969
Martsolf Syndrome 1	Short metacarpal, Epicanthus, Micrognathia, Metatarsus adductus, Slender ulna, Short toe, Osteopa...	OMIM:212720
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Ptosis, Ectropion, Micromelia, Abnorma...	ORPHA:3258
Monosomy 9Q22.3	Delayed eruption of teeth, Cataract, Palmar pits, Hydrocephalus, Joint hyperflexibility, Polydact...	ORPHA:77301
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Brachydactyly	ORPHA:776
Cole-Carpenter Syndrome	Communicating hydrocephalus, Frontal bossing, Turricephaly, Crumpled long bones, Bowing of the lo...	ORPHA:2050
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tri...	OMIM:616367
22Q11.2 Deletion Syndrome	Short neck, Abnormal aortic arch morphology, Spina bifida, Cryptorchidism, Patent ductus arterios...	ORPHA:567
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Micrognathia, Patent ductus ...	ORPHA:444077
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Neuroocular Syndrome	Hyperextensibility of the finger joints, Lens coloboma, Microcornea, Clinodactyly of the 5th fing...	OMIM:619539
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva...	OMIM:620103
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, A...	OMIM:610188
Silver-Russell Syndrome 1	Frontal bossing, Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia,...	OMIM:180860
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Fanconi Anemia	Choanal atresia, Spina bifida, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Tetralogy...	ORPHA:84
Smith-Kingsmore Syndrome	Depressed nasal bridge, Cryptorchidism, Wide anterior fontanel, Umbilical hernia, Short nose, Ven...	OMIM:616638
Genitopatellar Syndrome	Small scrotum, Micrognathia, Prominent nose, Anteriorly placed anus, Micropenis, Pachygyria, Agen...	OMIM:606170
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Myelopathy, Posterior subcapsular cat...	ORPHA:637
Poland Syndrome	Encephalocele, Short neck, Cryptorchidism, Kyphosis, Hemivertebrae, Vertebral segmentation defect...	ORPHA:2911
Alg3-Cdg	Abnormal pinna morphology, Abnormality of the nose, Neural tube defect, Macroglossia, High palate...	ORPHA:79321
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy	OMIM:213200
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl...	OMIM:619091
Bohring-Opitz Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Abnormal optic nerve morphology, ...	OMIM:605039
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Ataxia, Posteriorly rotated ear...	OMIM:619229
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Ptosis, Symphalangism affecting the phal...	ORPHA:710
Cloacal Exstrophy	Myelomeningocele, Hemivertebrae, Spina bifida	ORPHA:93929
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Lacrimal duct stenosis, Sparse eyebrow, Short ...	ORPHA:73246
Lateral Meningocele Syndrome	Posteriorly rotated ears, Abnormality of the middle ear ossicles, Micrognathia, Cryptorchidism, S...	ORPHA:2789
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Cryptorchidism, Abnormal tongue morphology, Gray matter heterotopia, Difficulty...	ORPHA:531151
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Cerebellar atrophy, Spinocerebellar atrophy	OMIM:215470
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Restlessness, Hyperactivity, Prominent nasal bridge, Aggressive behavior, ...	OMIM:300534
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Hyperactivity, Hypospadias, Anteverted nares, Precocious puberty, Cryptorchi...	ORPHA:254346
Marfan Syndrome	Retinal detachment, Cataract, Arachnodactyly, Protrusio acetabuli, Ectopia lentis, Micrognathia, ...	OMIM:154700
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Hyperactivity, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryp...	OMIM:614613
8Q24.3 Microdeletion Syndrome	Branchial cyst, Gastrointestinal hemorrhage, Thoracic scoliosis, Anteverted nares, Broad nasal ti...	ORPHA:508488
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Wide nasal bridge...	OMIM:104350
Degcags Syndrome	Syndactyly, Toe syndactyly, Craniosynostosis, Microcephaly, Micrognathia, Short thumb, Patent duc...	OMIM:619488
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Tetrasomy 18P	Low-set, posteriorly rotated ears, Short nose, Gait disturbance, Abnormality of neuronal migration	ORPHA:3307
B4Galt1-Cdg	Low-set ears, Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation	ORPHA:79332
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Conductive hearing impairment, Ataxia, Depressed nasal ridge	ORPHA:1861
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Craniosynostosis, Microcephaly, Plagiocephaly, Hip dysplasia, Branchial anomaly, Hypoplasia of th...	ORPHA:453499
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Bilateral cryptorchidism, ...	OMIM:619859
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal ridge, High palate, Conductive hearing impairment, Thickened helices, Pachygyria,...	OMIM:607872
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Chromosome 10Q26 Deletion Syndrome	Hyperactivity, Small scrotum, Broad-based gait, Aggressive behavior, Micrognathia, Cryptorchidism...	OMIM:609625
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Ectropion of lo...	ORPHA:246
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ...	ORPHA:370022
Hemangioblastoma	Retinal capillary hemangioma, Hydrocephalus	ORPHA:252054
Ulnar Hemimelia	Butterfly vertebrae, Scoliosis, Spinal dysraphism	ORPHA:93320
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,...	ORPHA:1788
Hydrolethalus Syndrome 1	Hypospadias, Abnormal cortical gyration, Abnormal pinna morphology, Bifid uterus, Micrognathia, A...	OMIM:236680
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Retrognathia, Bifid uvula	ORPHA:2736
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Abnormality of the vertebral column, Hypogonadism, Short nose, S...	OMIM:302950
Mosaic Trisomy 1	Microretrognathia, Abnormal pinna morphology, Depressed nasal bridge, Wide nasal bridge, Cleft pa...	ORPHA:1692
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Cerebellar vermis atrophy	OMIM:619054
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Clinodacty...	ORPHA:264450
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Chung-Jansen Syndrome	Cryptorchidism, Short nose, Anteverted nares	OMIM:617991
Potocki-Shaffer Syndrome	Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Sc...	ORPHA:624
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Cryptorchidism, Slender nose, Scoliosis, Short nose	OMIM:615419
Paganini-Miozzo Syndrome	Mandibular prognathia, Posteriorly rotated ears, Lateral ventricle dilatation, Microtia, Low-set ...	OMIM:301025
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Short nose, Scoliosis	ORPHA:2598
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Focal Dermal Hypoplasia	Narrow nasal bridge, Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus, Scoliosi...	ORPHA:2092
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe, Midface retrusion	OMIM:612581
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Corneal opacity, Joint stiffness, Carious teeth,...	OMIM:253200
Icf Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Protruding tongue, Malabsorption, Micrognath...	ORPHA:2268
Popliteal Pterygium Syndrome	Cryptorchidism, Spina bifida occulta	OMIM:119500
Microphthalmia With Linear Skin Defects Syndrome	Chorioretinal dysplasia, Micrognathia, Epispadias, Vitritis, Retinal dysplasia, Abnormal fallopia...	ORPHA:2556
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Absent eyelashes, Hypoplasia of the maxilla, Lacrimal duct atresia, 2-3 toe syn...	OMIM:106260
Perlman Syndrome	Cryptorchidism, Short nose, Anteverted nares, Wide nasal bridge	ORPHA:2849
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Depressed nasal bridge, Anteverted nares, Prominent nose, Cryptorchidism, Patent ductus arteriosu...	OMIM:618316
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Intestinal malrotation, Micrognathia, Hydrocephalus, Patent ductus arte...	OMIM:102500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, High palate, Compulsive behaviors, Conductive hearing impairment, Abnormal repetiti...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, High palate, Compulsive behaviors, Conductive hearing impairment, Abnormal repetiti...	ORPHA:353277
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidi...	OMIM:247200
Basal Cell Nevus Syndrome 2	Frontal bossing, Palmar pits, Hydrocephalus, Calcification of falx cerebri, Macrocephaly	OMIM:620343
Mucopolysaccharidosis Type 3	Adenoiditis, Conductive hearing impairment, Loss of ambulation, Thickened helices, Thick nasal al...	ORPHA:581
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Posteriorly rotated ears, Depressed nasal bridge, Long nose, Hydrocephalus, Optic atrophy, High p...	OMIM:618590
Noonan Syndrome 14	Posteriorly rotated ears, Prominent nasal bridge, High, narrow palate, Cryptorchidism, Lateral ve...	OMIM:619745
Nablus Mask-Like Facial Syndrome	Telecanthus, Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Highly ar...	OMIM:608156
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Depressed nasal ridge, Cervical cord compression, Thick nasal alae, Hypoplasti...	ORPHA:79345
Neurooculorenal Syndrome	Iris atrophy, Ectopic posterior pituitary, Intestinal malrotation, Short hallux, Micrognathia, Aq...	OMIM:620305
Achondrogenesis	Umbilical hernia, Short nose, Anteverted nares, Short neck	ORPHA:932
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Frontal bossing, Bowing of the long bones, Arachnodactyly, Camptodac...	ORPHA:2462
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Contracture of the ...	OMIM:300166
Mucopolysaccharidosis Type 1	Corneal opacity, Malabsorption, Joint stiffness, Hydrocephalus, Split hand, Optic atrophy, Abnorm...	ORPHA:579
Camptodactyly Syndrome, Guadalajara, Type Iii	Spina bifida occulta, Short neck	OMIM:611929
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro...	ORPHA:3472
Pycnodysostosis	Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Persistence of primary t...	ORPHA:763
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella	OMIM:617752
Silver-Russell Syndrome 3	Relative macrocephaly, Frontal bossing, Syndactyly, Patent ductus arteriosus, Small hand, Clinoda...	OMIM:616489
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Intraventricular hemorrhage, Platyspondyly, Syringomyelia, Vertebral compression ...	OMIM:616507
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Long palm	OMIM:300676
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tra...	OMIM:314390
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Donnai-Barrow Syndrome	Umbilical hernia, Short nose, Wide anterior fontanel, Depressed nasal bridge	ORPHA:2143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Macroglossia, Pachygyria, Abnormality of neuronal migration	OMIM:608840
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Anteverted nares, Depressed nasal bridg...	ORPHA:175
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Odontochondrodysplasia	Death in infancy, Depressed nasal bridge, Patent ductus arteriosus, Platyspondyly, Scoliosis, Sho...	ORPHA:166272
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology	ORPHA:90653
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Short neck, Progressive intervertebral...	ORPHA:1716
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Lumbar Syndrome	Cryptorchidism, Myelomeningocele, Spina bifida	ORPHA:83628
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia	OMIM:618890
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Decreased skull ossification, Iris coloboma, Partial absence of toe, Sh...	ORPHA:955
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Male infertility, Nasal polyposis, Absent outer dynein arms, Anosmia...	OMIM:244400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Miller-Dieker Syndrome	Sacral dimple, Short nose, Anteverted nares	ORPHA:531
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Bulbous nose, Patent ductus arteriosus, Coarctation of a...	ORPHA:284169
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Hypoplasia of the maxilla, Clinodactyly, Short distal phalanx of finger, Ptosis	OMIM:614261
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, High, narrow palate, Hydrocephalus, Abnormality of neuronal migration, Renal tubular ...	ORPHA:228308
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Hip dislocation, Upslanted palpebral fis...	ORPHA:481152
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Ir...	ORPHA:251014
Isolated Exencephaly	Anterior pituitary hypoplasia, Abnormal calvaria morphology, Holoprosencephaly, Posterior pituita...	ORPHA:563612
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Aggressive behavior, Dysplastic corpus callosum, Sensorineural hearing impairment, Lateral ventri...	ORPHA:488627
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cryptorchidism, Patent ductus arteriosus, Gray matter heterotopia, Neonat...	OMIM:620024
Glutathionuria	Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum	OMIM:231950
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydr...	ORPHA:1340
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Micropenis, Retinal atrophy, Ataxia, Retinal pigment epith...	OMIM:216400
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Abnormal pelvic girdle bone morphology, A...	ORPHA:1834
Achondrogenesis Type 1B	Umbilical hernia, Short nose, Anteverted nares, Short neck	ORPHA:93298
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi...	OMIM:617895
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Scoliosis, Spina bifida	OMIM:162200
H Syndrome	Hearing impairment, Malabsorption, Recurrent pharyngitis, Hydrocephalus, Azoospermia, Hypogonadis...	ORPHA:168569
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Small...	ORPHA:2714
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Micrognathia, Aprosencephaly, Talipes equinovarus, Retinal dysplasia, Absent me...	OMIM:601374
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Telecanthus	OMIM:300484
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Posteriorly rotated ears, Choanal atresia, Underdeveloped nasal ...	ORPHA:163979
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr...	ORPHA:25
Kagami-Ogata Syndrome	Blepharophimosis, Coxa valga, Long fingers, Micrognathia, Hypoplasia of the maxilla, Limb undergr...	OMIM:608149
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous finger syndactyly, Short p...	OMIM:224690
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Anteverted nares, Optic atrophy, Abnormality of neuronal mig...	ORPHA:2518
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Frontal bossing, Toe clinodactyly, Cerebellar vermis hypoplasia, Sandal ga...	OMIM:620330
Isotretinoin-Like Syndrome	Anteverted nares, Micrognathia, Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of th...	ORPHA:2306
Achondrogenesis Type 1A	Umbilical hernia, Short nose, Anteverted nares, Short neck	ORPHA:93299
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Micrognathia, Achilles tendon contracture, Osteoporosis, Norma...	OMIM:620351
Congenital Disorder Of Glycosylation, Type Iu	Death in infancy, Short nose, Scoliosis	OMIM:615042
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Abnormal cerebrospinal fluid morphology, Cerebral atrophy, Abnormal cerebral ...	ORPHA:314404
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Agitation, Dysphagia, Pachygyria, Agyria	ORPHA:2148
Recon Progeroid Syndrome	Prominence of the premaxilla, Arachnodactyly, Proximal placement of thumb, Absent lower eyelashes...	OMIM:620370
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Short nose, Depressed nasal bridge	OMIM:616910
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Aicardi-Goutières Syndrome	Cerebral calcification, Microcephaly, Porencephalic cyst, Chronic CSF lymphocytosis, Multifocal c...	ORPHA:51
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	OMIM:219730
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Anteverted nares	OMIM:618506
Man1B1-Cdg	Broad-based gait, Wide nose, Periventricular heterotopia, Prominent nose, Wide nasal bridge, Low-...	ORPHA:397941
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Global ...	ORPHA:275872
Wildervanck Syndrome	Congenital sensorineural hearing impairment, Meningocele, Pseudopapilledema	ORPHA:3456
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Oxoglutaric Aciduria	Hydrocephalus, Ataxia, Abnormal salivary gland morphology	ORPHA:31
Mucopolysaccharidosis, Type Vii	Corneal opacity, Joint stiffness, Metatarsus adductus, Hydrocephalus, Flexion contracture, Limita...	OMIM:253220
Cardiofaciocutaneous Syndrome 1	Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Hydrocephalus, ...	OMIM:115150
Hartsfield Syndrome	Syndactyly, Epicanthus, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectrodactyly, Hypoplas...	OMIM:615465
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morp...	OMIM:274000
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplasia of the calcaneus...	OMIM:215140
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma	OMIM:613576
Kaposiform Lymphangiomatosis	Abnormal bleeding, Abnormal thoracic spine morphology, Epidural hemorrhage, Metrorrhagia, Epistax...	ORPHA:464329
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Anterior pituitary hypoplasia, Micrognathia, Brachycephaly, Sh...	ORPHA:264200
Glutaric Acidemia I	Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla,...	OMIM:261540
Contractural Arachnodactyly, Congenital	Frontal bossing, Hip contracture, Bowing of the long bones, Arachnodactyly, Micrognathia, Metatar...	OMIM:121050
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epithelial necrosis, ...	ORPHA:157
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Syringomyelia, Short nose, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613735
Bickerstaff Brainstem Encephalitis	CSF pleocytosis, Increased CSF protein concentration, Abnormal thalamic MRI signal intensity	ORPHA:79138
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Aortic regurgitation	OMIM:600721
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Coloboma, High palate, Phocomelia, Wrist...	OMIM:268300
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Microgna...	ORPHA:221120
Gorlin-Chaudhry-Moss Syndrome	Abnormal eyelid morphology, Hypoplasia of the maxilla, Upper eyelid coloboma, Abnormal metacarpal...	ORPHA:2095
Aspergillosis	Nasal congestion, Abnormality of the vertebral column, Stroke, Intracranial hemorrhage	ORPHA:1163
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir...	ORPHA:91350
Femoral-Facial Syndrome	Cryptorchidism, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, Short nose,...	ORPHA:1988
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Khan-Khan-Katsanis Syndrome	Patent ductus arteriosus after premature birth, Micrognathia, Sensorineural hearing impairment, P...	OMIM:618460
Hellp Syndrome	Back pain, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Internal hemorrhage	ORPHA:244242
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Esophage...	OMIM:227646
Pallister-Hall Syndrome	Gonadotropin deficiency, Holoprosencephaly, Microretrognathia, Mesoaxial polydactyly, Radial bowi...	ORPHA:672
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Short neck, Cryptorchidism, Short nose, Ventri...	ORPHA:2083
Whipple Disease	Ataxia, Anorexia, Malabsorption, Hydrocephalus, Erectile dysfunction, Polydipsia	ORPHA:3452
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, Microcephaly, Dolichocephaly, Hydrocephalus, Genu valgum, Plagio...	OMIM:619475
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Convex nasa...	OMIM:619321
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Raynaud phenomenon, Kyphosis, Vasculitis, Hypertension, Pl...	ORPHA:1855
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Partial agenesis of the corpus c...	OMIM:222448
Vater/Vacterl Association	Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus, Scoliosis, Abnormal vertebr...	OMIM:192350
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Upslanted palpebral fissure, Narrow palpebral fissure, Clinoda...	OMIM:618087
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Varicose veins, Spina bifida occulta	ORPHA:500095
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Pulmonary artery a...	ORPHA:401935
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Dysostosis, Stanescu Type	Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Hypoplasia of the maxill...	ORPHA:1798
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Communicating hydrocephalus, Optic disc pallor, Cataract, Corneal opacity,...	ORPHA:309282
Arachnoiditis	Hydrocephalus, Tinnitus, Hearing impairment	ORPHA:137817
Hurler Syndrome	Corneal opacity, Camptodactyly of finger, Hydrocephalus, Abnormality of the elbow, Limitation of ...	ORPHA:93473
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, Thin corpus callosum, Hypothalamic hamartoma	OMIM:619908
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Patent ductus ar...	OMIM:617260
Thoracoabdominal Syndrome	Hypospadias, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate	OMIM:313850
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Cryptorchidism, Bulbous nose, Wide nasal b...	OMIM:615803
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Craniosynostosis, Unilateral brachydactyly, Plagiocephaly, Aplasia/Hypoplasia involvi...	ORPHA:1521
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Agenesis of corpus callosum, Retin...	ORPHA:42775
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Abnormal optic nerve morpholo...	ORPHA:453504
Rapp-Hodgkin Syndrome	Syndactyly, Absent lacrimal punctum, Sparse eyelashes, Sparse eyebrow, Hypoplasia of the maxilla,...	OMIM:129400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Abnormal optic nerve morpholo...	ORPHA:352665
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi...	ORPHA:324636
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Partial agenesis of the corpus callosum, Wide nasal bridge, Thoracic kyphosis, Scolio...	OMIM:620250
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Hyperactivity, Depressed nasal bridge, Prominent nasal bridge, Cryptorchid...	OMIM:618505
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Anteverted nares, Depressed nasal bridge, Paten...	OMIM:618188
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Telecanthus, Death in infancy, Proximal placement of ...	OMIM:615789
Cardioacrofacial Dysplasia 1	Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum	OMIM:619142
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Anteriorly placed anus, ...	OMIM:612289
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Lacrimal duct atresia, Split foot, Camptodactyly, Joint co...	OMIM:603543
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Tapered finger, Hypoplasia of the maxilla, Synophrys, Increas...	OMIM:609460
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Syndactyly, Scapular winging, Short metacarpal, Single transverse palmar c...	OMIM:150230
Coffin-Siris Syndrome	Delayed eruption of teeth, Hyperactivity, Hypospadias, Anteverted nares, Depressed nasal bridge, ...	ORPHA:1465
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Ulnar deviation of the hand, Hypoplasia of the maxilla, Malar flattening, Downslante...	OMIM:122880
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Cranial asymmetry, Camptodactyl...	OMIM:609128
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Optic disc coloboma, Micrognathia	OMIM:241310
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Broad nasal tip, Recurrent upper respiratory tract infections, Prominent nasolabial fold, Pulmona...	ORPHA:391372
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Microcephaly, Long fingers, Patent ductus arteriosus, Plagiocephaly, Talipes equinovaru...	OMIM:613355
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Schneckenbecken Dysplasia	Ovoid vertebral bodies, Short neck, Platyspondyly, Stillbirth, Umbilical hernia, Short nose, Narr...	OMIM:269250
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly, Polymicrogyria, Optic nerve hypoplasia, Hand oligodactyly	ORPHA:45358
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Scoliosis	OMIM:256850
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Agenesis of ...	OMIM:613001
Slc35A2-Cdg	Precocious puberty, Inability to walk, Sensorineural hearing impairment, Lateral ventricle dilata...	ORPHA:356961
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares, Ventriculomegaly	ORPHA:228384
Kabuki Syndrome 1	Anal stenosis, Posteriorly rotated ears, Intestinal malrotation, Premature thelarche, Malabsorpti...	OMIM:147920
Menkes Disease	Intracranial hemorrhage, Death in childhood	OMIM:309400
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris c...	ORPHA:959
X-Linked Cerebral Adrenoleukodystrophy	Hyperactivity, Ataxia, Myelopathy, Inability to walk, Dysmetria, Gait disturbance, Difficulty wal...	ORPHA:139396
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Short nose, Agenesis of corpus callosum	ORPHA:261144
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Single transverse palmar crease, Micrognathia, Patent du...	OMIM:620185
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Short nose, Scoliosis	OMIM:617183
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Frontal bossing, Syndactyly, Micrognathia, Short 5th finger, Polydactyly, ...	ORPHA:397590
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Scoliosis, Short nose, Ven...	OMIM:619179
Fetal Akinesia Deformation Sequence 1	Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, High, narrow palate, Cleft...	OMIM:208150
Schizophrenia 1	Frontal bossing, Flat occiput, Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Trigonocephaly 1	Short nose, Lumbar hemivertebrae, Wide nasal bridge	OMIM:190440
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Hyperlordosis, Depressed nasal ridge, Abnormal form of the vertebral bodies, Short nose	ORPHA:2831
Marden-Walker Syndrome	Abnormal penis morphology, Hypospadias, Posteriorly rotated ears, Micrognathia, Epispadias, Hydro...	ORPHA:2461
Phocomelia, Schinzel Type	Hypoplasia of penis, Micrognathia, Cryptorchidism, High, narrow palate, Meningocele, Tracheoesoph...	ORPHA:2879
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93945
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arterioven...	ORPHA:109
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Conductive hearing impairment, Abnormal repetitive mannerisms, Oppos...	ORPHA:580
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Bulbous nose, Anteverted nares, Wide nasal bridge, Short nose	OMIM:613604
Distal Xq28 Microduplication Syndrome	Metatarsus adductus, Hypoplasia of the maxilla, Upper eyelid edema, Clinodactyly, Aplasia/Hypopla...	ORPHA:293939
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib...	OMIM:607485
Acrocallosal Syndrome	Mandibular prognathia, Coloboma, High palate, Clinodactyly of the 5th finger, Agenesis of corpus ...	OMIM:200990
Holoprosencephaly 4	Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Semilobar holoprosenc...	OMIM:142946
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dislocated radial head, Syn...	OMIM:265000
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Colpocephaly, Cond...	OMIM:609053
Fetal Trimethadione Syndrome	Depressed nasal bridge, Transposition of the great arteries, Scoliosis, Short nose, Tetralogy of ...	ORPHA:1913
Humero-Radial Synostosis	Meningocele, Chorioretinal coloboma	ORPHA:3265
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Anteverted nares, Cryptorchidism, Tetralogy of Fallot, Conotruncal defect, ...	ORPHA:96147
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Ventriculomegaly	ORPHA:85277
Knobloch Syndrome 2	Encephalocele	OMIM:618458
Hamamy Syndrome	Long toe, Syndactyly, Telecanthus, Sparse eyelashes, Down-sloping shoulders, Tapered finger, Spar...	OMIM:611174
Ritscher-Schinzel Syndrome 3	Death in infancy, Anteverted nares, Micrognathia, Cryptorchidism, Chorioretinal coloboma, Periven...	OMIM:619135
Medulloblastoma	Back pain, Cerebellar hemorrhage, Hydrocephalus, Spinal cord tumor	ORPHA:616
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:255138
Codas Syndrome	Depressed nasal bridge, Anteverted nares, Abnormal form of the vertebral bodies, Coronal cleft ve...	ORPHA:1458
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Brac...	OMIM:604757
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Short neck, Wide nasal bridge, Hypertrophic cardiomyopathy, Platyspondyly, Shor...	OMIM:616897
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility	ORPHA:3226
Tarp Syndrome	Anteverted nares, Subdural hemorrhage, Wide nasal bridge, Neonatal death, Tetralogy of Fallot	OMIM:311900
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Thoraco-Abdominal Enteric Duplication	Meningocele, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Andersen-Tawil Syndrome	Abnormality of dental color, Clinodactyly of the 5th toe, Persistence of primary teeth, Micrognat...	ORPHA:37553
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Holoprosencephaly, Cl...	ORPHA:1587
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Ptosis, Abnormal morphology of...	ORPHA:570
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Tibial...	OMIM:231070
Cockayne Syndrome B	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Limitation of joint mobi...	OMIM:133540
3Mc Syndrome 2	Ptosis, Prominence of the premaxilla, Highly arched eyebrow, Limited elbow movement, Hip dislocat...	OMIM:265050
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis atrophy	ORPHA:1170
Plasminogen Deficiency, Type I	Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Dandy-Walker malform...	OMIM:217090
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Telecanthus, Death in infancy, Micrognathia, Adactyly, Split ha...	ORPHA:989
Osteopetrosis With Renal Tubular Acidosis	Cerebral calcification, Micrognathia, Persistence of primary teeth, Basal ganglia calcification, ...	ORPHA:2785
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Death in childhood,...	OMIM:612301
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Retrognathia, ...	OMIM:601812
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Cerebellar hypoplasia	OMIM:620208
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Hydrocephalus, Plagiocephaly, Narrow iliac wing, Midface retrusion	ORPHA:3042
Bardet-Biedl Syndrome 1	Syndactyly, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Brachydactyly, ...	OMIM:209900
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella	OMIM:620197
Joubert Syndrome 33	Cone/cone-rod dystrophy, Syndactyly, Molar tooth sign on MRI	OMIM:617767
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Epicanthus, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hy...	OMIM:614800
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Sensorineura...	ORPHA:2322
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Alexander Disease	Ataxia, Aqueductal stenosis, Precocious puberty, Hydrocephalus, Self-injurious behavior, Gait dis...	ORPHA:58
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Short nose	OMIM:618828
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Microcephaly	OMIM:615284
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Micrognathia, Hydro...	OMIM:273395
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Micrognathia, Cleft palate, Pigmentary reti...	OMIM:614230
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, 2-4 finger synd...	OMIM:107480
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Oeis Complex	Intestinal malrotation, Bifid uterus, Epispadias, Myelomeningocele, Ambiguous genitalia, female, ...	OMIM:258040
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag...	ORPHA:3016
Adams-Oliver Syndrome 1	Encephalocele, Ventriculomegaly	OMIM:100300
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Dysphagia	OMIM:617008
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Blepharophimosis, Syndactyly, Epicanthus, Camptodactyly	OMIM:616006
Vici Syndrome	Wide nose, Depressed nasal bridge, Macular atrophy, Micrognathia, Sensorineural hearing impairmen...	OMIM:242840
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage	ORPHA:79284
Thakker-Donnai Syndrome	Communicating hydrocephalus, Posteriorly rotated ears, Anteverted nares, Bulbous nose, Tracheoeso...	ORPHA:1780
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal...	OMIM:175780
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent sinusitis, Nasal congestion	OMIM:300991
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di...	ORPHA:93924
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, High palate, Abnormal repetitive mannerisms, Simple ear, Hypospadia...	OMIM:619325
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Pancreatic fibrosis, Hamartoma of tongue, Intestinal malrotation, Microglossia...	OMIM:263520
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Abnormal vertebral morphology	ORPHA:99688
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Ab...	ORPHA:906
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Frontal bossing, Mandibular prognathia, Cerebellar atrophy, Arachnod...	OMIM:617011
Ciliary Dyskinesia, Primary, 45	Male infertility, Chronic rhinitis, Absent inner and outer dynein arms	OMIM:618801
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypospadias, Anteverted nares, Supernumerary nipple, Narrow nasal tip, Cryptorchidism, Wide nasal...	ORPHA:477993
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy, Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Prominent nasal bridge, Patent ductus arteriosus, Bulbous nose, Hypertension, Short ...	OMIM:613870
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614874
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Superficial Siderosis	Back pain, Enlarged sylvian cistern, Abnormal bleeding, Partial anosmia, Subarachnoid hemorrhage,...	ORPHA:247245
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Scoliosis, Short nose, Bruising susceptibility, Ventriculomegaly	ORPHA:561
Smith-Lemli-Opitz Syndrome	Sclerocornea, Micrognathia, Proximal placement of thumb, Holoprosencephaly, Advanced eruption of ...	ORPHA:818
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Telecanthus, Ectropion, Sparse eyelashes, Micro...	OMIM:209885
Smith-Magenis Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Abnormal form of the vertebral bodie...	ORPHA:819
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Patent ductus ar...	OMIM:619869
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Intervertebral space narrowing, Wide nasal bridge	OMIM:614078
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Agenesis of corpus callosum, Iris coloboma, Verteb...	OMIM:194190
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Elevated circulating growth hormone concentration, Aggressive behavior, Long nose,...	ORPHA:85327
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cerebral hemorrhage, Cryptorchidism, Patent ductus arteriosus, Bulbous nose, Scoliosis	OMIM:616682
Waardenburg Syndrome	Intestinal obstruction, Aplasia/Hypoplasia of the colon, Aganglionic megacolon, Prominent nasal b...	ORPHA:3440
Lathosterolosis	Hypoplasia of penis, Anteverted nares, Micrognathia, Bulbous nose, Meningocele, High palate, Shor...	ORPHA:46059
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Cataract, Anophthalmia, Optic nerve hypoplasia, Sclerocorn...	OMIM:206900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Cryptorchidism, Short nose, Scoliosis	ORPHA:496790
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Cerebellar vermis hypoplasia, Dilated fourth ventricle	ORPHA:251347
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Narrow nose, Cryptorchidism, Bu...	OMIM:618454
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Kyphoscoliosis, Short neck, Scoliosis, Short nose	ORPHA:391408
Marshall Syndrome	Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypoplasia of the maxilla, Hypoplastic frontal si...	ORPHA:560
Meier-Gorlin Syndrome 5	Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar...	OMIM:613805
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Epicanthus, Micromelia...	OMIM:614091
Toriello-Carey Syndrome	Short neck, Cryptorchidism, Partial agenesis of the corpus callosum, Wide anterior fontanel, Pate...	ORPHA:3338
Pterygium Colli, Isolated	Short nose	OMIM:177990
Peroxisome Biogenesis Disorder 13A (Zellweger)	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Gray matter heterotopia, Neonatal death,...	OMIM:614887
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Arima Syndrome	Dilated fourth ventricle, Retinal dystrophy, Ataxia, Optic atrophy, Esophageal varix, Gray matter...	OMIM:243910
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage	OMIM:606054
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Ruvalcaba Syndrome	Cryptorchidism, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology, Short nose, Convex ...	ORPHA:3121
Myhre Syndrome	Mandibular prognathia, Ptosis, Brachydactyly, Craniofacial hyperostosis, Blepharophimosis, Hypopl...	ORPHA:2588
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose	OMIM:614069
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Hydro...	ORPHA:667
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Hydrocephalus, Optic atrophy, Gait disturbance, Ventriculomegaly	ORPHA:395
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Depressed nasal bridge, Kyphosis, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, Scol...	OMIM:617061
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Short nose, Depressed nasal bridge, Short neck	OMIM:608776
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Short neck, Wide anterior fontanel, Platyspondyly, Stil...	OMIM:228520
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Anteverted nares, Arterial rupture, Platyspondyly, Dilatation of the cerebral artery, Scoliosis, ...	OMIM:612394
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Stroke-like episode, Bruis...	OMIM:185070
Fraser Syndrome	Encephalocele, Umbilical hernia, Myelomeningocele, Vertebral segmentation defect	ORPHA:2052
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Recurrent sinusitis, Telangiectasia	ORPHA:420741
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Recurrent fractures, Avascular necrosis of the capita...	OMIM:619377
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Hypopl...	OMIM:263750
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose	OMIM:249620
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Faundes-Banka Syndrome	Frontal bossing, Micrognathia, Plagiocephaly, Primary microcephaly, Flexion contracture of toe	OMIM:619376
Prader-Willi Syndrome	Short palm, Syndactyly, Decreased response to growth hormone stimulation test, Carious teeth, Acr...	OMIM:176270
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn...	OMIM:609192
Aicardi-Goutieres Syndrome 9	Optic atrophy, Chorioretinal atrophy, Lateral ventricle dilatation, Micropenis, Self-mutilation	OMIM:619487
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal gangli...	ORPHA:2152
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Fumarase Deficiency	Relative macrocephaly, Frontal bossing, Decreased fumarate hydratase activity, Microcephaly, Chor...	OMIM:606812
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Anteverted nares, Decreased fertility, Short nose	OMIM:234050
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Atrophy of the spinal cord, Hydrocephalus, Dilated cardiomyopathy, Subdural h...	ORPHA:79282
Craniofacial Microsomia 1	Occipital encephalocele, Block vertebrae, Hydrocephalus, Hemivertebrae, Branchial anomaly, Chiari...	OMIM:164210
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, Short tibia, Finger sy...	ORPHA:2751
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Kleefstra Syndrome	Anteverted nares, Cryptorchidism, Pulmonary artery stenosis, Coarctation of aorta, Scoliosis, Arr...	ORPHA:261494
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Short neck, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery st...	ORPHA:251071
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Desbuquois Dysplasia 1	Depressed nasal bridge, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Concave nasal ridge, ...	OMIM:251450
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventriculomegaly	ORPHA:171680
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Broad-based gait, Spontaneous, recurrent epistaxis, Hydrocephalus, Sensorineural hea...	ORPHA:2072
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Epicanthus, Overlapping toe, Highly arched eyebrow, Micr...	OMIM:213980
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms, Chronic rhinitis, Recurrent sinusitis	OMIM:612444
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Scoliosis, Facial telangiectasia, Short nose, Ventriculomegaly	OMIM:615851
Lethal Congenital Contracture Syndrome 5	Death in infancy, Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Grange Syndrome	Syndactyly, Patent ductus arteriosus, Short palm	ORPHA:79094
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Joint stiffness, Hydrocephalus, Flexion contracture, Optic a...	ORPHA:505248
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Hydrocephalus, Optic atrophy, Retinopathy, Hearing impairment	ORPHA:220295
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductus arteriosu...	OMIM:300868
Dextrocardia	Intestinal malrotation, Abnormal reproductive system morphology, Hydrocephalus, Pancreatic hypopl...	ORPHA:1666
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Cryptorchidism, Short nose, Depressed nasal bridge	OMIM:614732
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathi...	OMIM:610168
Distal Duplication 17Q	Low-set, posteriorly rotated ears, Hyperactivity, Depressed nasal bridge, Micrognathia, Cryptorch...	ORPHA:3379
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar malformation, Abnormal cerebel...	ORPHA:357058
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Musculocontractural Ehlers-Danlos Syndrome	Abnormal bleeding, Subcutaneous hemorrhage, Cervical kyphosis, Kyphoscoliosis, Cryptorchidism, Pr...	ORPHA:2953
Exstrophy-Epispadias Complex	Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction	ORPHA:322
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ...	ORPHA:90797
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Posteriorly rotated ears, Depressed nasal bridge, Wide nasal bridge, Lateral ventric...	OMIM:619479
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Coronal craniosyno...	OMIM:614188
Nijmegen Breakage Syndrome	Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Abnormality of neu...	ORPHA:647
Craniosynostosis, Herrmann-Opitz Type	Short nose, Convex nasal ridge	ORPHA:2145
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Sacral dimple, Prominent nasal bridge, Fetal intraventricular hemorrhage	OMIM:618480
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Long nose, Hypopla...	ORPHA:508533
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis	OMIM:618699
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose, Scoliosis	ORPHA:544503
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A...	ORPHA:1772
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Hypospadias, Anterior pituitary hypoplasia, Narrow nasal tip, P...	ORPHA:464306
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Subarachnoid hemorrhage, Recurrent sinusitis	OMIM:243700
Meier-Gorlin Syndrome 3	Microretrognathia, Aplasia/Hypoplasia of the patella, Micrognathia, Hypoplasia of the maxilla, Pa...	OMIM:613803
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Gr...	OMIM:608624
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares	OMIM:619854
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Elongat...	OMIM:610688
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Uplifted earlobe, High, narrow palate, Pro...	OMIM:613406
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Hypospadias, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broad...	OMIM:309590
Down Syndrome	Depressed nasal bridge, Short neck, Depressed nasal ridge, Decreased fertility, Umbilical hernia,...	ORPHA:870
Myhre Syndrome	Mandibular prognathia, Thick eyebrow, Overlapping toe, Blepharophimosis, Hypoplasia of the maxill...	OMIM:139210
Faciocardiorenal Syndrome	Plagiocephaly	ORPHA:1973
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the...	ORPHA:722
Sclerosteosis 1	Mandibular prognathia, Frontal bossing, Syndactyly, 2-3 finger syndactyly, Dental malocclusion, F...	OMIM:269500
Spermatogenic Failure 14	Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ...	OMIM:615842
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Simplified gyral pattern, Protruding ear, Bifid uvula, Absent gallblad...	ORPHA:500150
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares	OMIM:619356
Spinocerebellar Ataxia 1	Dilated fourth ventricle, Spinocerebellar atrophy, Dorsal column degeneration, Spinocerebellar tr...	OMIM:164400
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Wide anterior fontanel, Scoliosis, Short nose, Dandy-Walker malformation	OMIM:219200
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Anteverted nares, Protruding tongue, Gray matter heterotopia, Low-set ears	OMIM:618797
Spinocerebellar Ataxia 2	Cerebellar atrophy, Spinocerebellar tract degeneration, Olivopontocerebellar atrophy, Dilated fou...	OMIM:183090
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Tetrasomy 12P	Short nose, Anteverted nares, Short neck	ORPHA:884
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Petechiae, Neonatal death, Short nose, Ventriculomegaly...	OMIM:608013
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Mandibular prognathia, Prominent ...	ORPHA:457359
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Reduced cerebral white matter volume, Microcephaly, Perisylvian polymicrogyria, Flared metaphysis...	OMIM:610442
Fibrochondrogenesis 2	Short nose, Anteverted nares, Platyspondyly	OMIM:614524
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Agenesis of molar, Supernumerary tooth, Anterior plagiocephaly, Bicoronal synostosis	OMIM:619718
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Choanal atresia, Protruding tongue, Micrognathia, Perisylvian predom...	ORPHA:98889
Zaki Syndrome	Dilated fourth ventricle, Sacral dimple, Cerebellar vermis hypoplasia, Scoliosis	OMIM:619648
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Depressed nasal bridge	ORPHA:210548
Non-Distal Duplication 13Q	Cryptorchidism, Short nose	ORPHA:1702
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Warburg Micro Syndrome 3	Short nose, Kyphoscoliosis, Decreased testicular size, Ventriculomegaly	OMIM:614222
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Umbilical hernia, Thick eyebrow	ORPHA:96129
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Posteriorly rotated ears, Anteverted nares, Underdeveloped antitragus, Dep...	OMIM:181270
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Calvarial skull defect, Brachydactyly	OMIM:616589
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Anteverted nares, Short nose	OMIM:616420
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Mitral regurgitation	OMIM:615539
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth	OMIM:263630
Hemorrhagic Fever-Renal Syndrome	Back pain, Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, M...	ORPHA:340
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Recurrent fractures, Joint stiffn...	ORPHA:636
Gaucher Disease	Osteopenia, Ventriculomegaly, Increased bone mineral density, Corneal opacity, Recurrent fracture...	ORPHA:355
Coccidioidomycosis	Abnormal sperm morphology, Abnormal retinal morphology, Eosinophilia, CSF pleocytosis, Hydrocepha...	ORPHA:228123
Microphthalmia With Limb Anomalies	Sacral dimple, Depressed nasal bridge, Unilateral cryptorchidism, Flared nostrils, Interrupted in...	OMIM:206920
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Achard Syndrome	Broad skull, Arachnodactyly, Brachycephaly, Micrognathia	OMIM:100700
Elsahy-Waters Syndrome	Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Supernume...	OMIM:211380
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Autosomal Dominant Omodysplasia	Cryptorchidism, Short nose, Depressed nasal bridge	ORPHA:93328
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage, Spinal cord lesion, Scoliosis	ORPHA:221061
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Short nose	ORPHA:2547
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Micrognathia, Hypoplasia of the pons, Patent ductus arteriosus, Optic atrophy, Furrow...	OMIM:616975
Teebi Hypertelorism Syndrome 1	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hydrocele testis, Aortic root aneury...	OMIM:145420
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Robinow Syndrome, Autosomal Dominant 3	Frontal bossing, Syndactyly, Micrognathia, Patent ductus arteriosus, Dental malocclusion, Mesomel...	OMIM:616894
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Mandibular prognathia, Uplifted earlobe, Cleft hard palate, Webbed penis, Micropen...	ORPHA:261537
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Kyphosis, Intracranial hemorrhage, Hypertension,...	ORPHA:394
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Cryptorchidism, Kyphosis, Coarctation of aorta, Aortic root aneurysm, Scoliosis, Short...	OMIM:617602
Schinzel-Giedion Syndrome	Micrognathia, Anteriorly placed anus, High palate, Choanal stenosis, Micropenis, Streak ovary, Hy...	ORPHA:798
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Depressed nasal bridge, Inability to walk, Gray matter heterotopia, Dy...	ORPHA:26791
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Telecanthus	ORPHA:782
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Relative macrocephaly, Frontal bossing, Syndactyly, Narrow joint spaces of the elbow, Decreased r...	ORPHA:96182
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Telecanthus, Toe syndactyly, Sparse eyelashes, Sparse eyebrow, Dacryocystitis, Hypoplasia of the ...	OMIM:129900
20Q11.2 Microduplication Syndrome	Sacral dimple, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Abnor...	ORPHA:363659
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Congenital bilateral hip dislocation, Choroidal neovascularization, Syndactyly	ORPHA:404451
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper...	ORPHA:99827
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
Macrocephaly/Autism Syndrome	Hydrocele testis, Short nose, Dilation of Virchow-Robin spaces, Depressed nasal bridge	OMIM:605309
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Scoliosis, Restrictive cardio...	OMIM:615398
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Anosmia, Hypogonadotropic hypogonadism, Short nose	ORPHA:1295
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Mandibular prognathia, Uplifted earlobe, Cleft hard palate, Webbed penis, Micropen...	ORPHA:261552
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating...	ORPHA:90793
Ciliary Dyskinesia, Primary, 19	Male infertility, Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis	OMIM:614935
Jaberi-Elahi Syndrome	Depressed nasal bridge, Kyphosis, Scoliosis, Short nose, Dandy-Walker malformation	OMIM:617988
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Cryptococcosis	Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Prostatitis	ORPHA:1546
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate	OMIM:257910
Autosomal Recessive Omodysplasia	Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:93329
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Narrow nasal ridge, Raynaud phenomenon, Carotid a...	ORPHA:740
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Telecanthus, Highly arched eyebrow, Uppe...	ORPHA:1299
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Spinocerebellar tract degeneration	OMIM:109150
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Agenesi...	ORPHA:3455
16P11.2P12.2 Microdeletion Syndrome	Tricuspid regurgitation, Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Arrhythm...	ORPHA:261211
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Hypoplastic sacrum, Anteverted nares, Depressed nasal bridge, Short nec...	OMIM:200600
Cerebrofaciothoracic Dysplasia	Wide nose, Short neck, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Short nose, Ventr...	ORPHA:1394
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Slender long bone, Patellar aplasia, Micrognathia	OMIM:613804
Periventricular Nodular Heterotopia 9	Broad-based gait, Posteriorly rotated ears, Gray matter heterotopia, Microtia, Squared superior p...	OMIM:618918
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Robinow Syndrome, Autosomal Dominant 2	Sacral dimple, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Cryptorchidism, Umbilica...	OMIM:616331
Prolidase Deficiency	Depressed nasal bridge, Diffuse telangiectasia, Concave nasal ridge, Short nose, Petechiae	OMIM:170100
Periventricular Nodular Heterotopia	Pyloric stenosis, Patent ductus arteriosus, Periventricular heterotopia	ORPHA:98892
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry, Optic nerve hypoplasia, Macrocephaly	ORPHA:137634
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension, Irregular menstruation, Testicular adrenal rest tumor	ORPHA:90795
Micro Syndrome	Anteverted nares, Cryptorchidism, Kyphosis, Wide nasal bridge, Scoliosis, Short nose	ORPHA:2510
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger, Decreased sku...	OMIM:601163
Tukel Syndrome	Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap...	OMIM:609428
Lacrimoauriculodentodigital Syndrome	Micrognathia, Abnormal digit morphology, Syndactyly, Finger syndactyly, Abnormal dental enamel mo...	ORPHA:2363
Al-Raqad Syndrome	Short nose	OMIM:616459
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Ogden Syndrome	Short neck, Ventricular tachycardia, Supraventricular tachycardia, Depressed nasal bridge, Crypto...	OMIM:300855
Lathosterolosis	Foam cells with lamellar inclusion bodies, Anteverted nares, Lumbosacral meningocele, Myelomening...	OMIM:607330
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Cryptorchidism, Kyphosis, Hemivertebrae...	OMIM:301040
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Alg11-Cdg	Gray matter heterotopia, Retrognathia, Ataxia, Hearing impairment	ORPHA:280071
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Micrognathia, Carious tee...	OMIM:223370
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Toe syndactyly, Camptodactyly of finger, Absent eyelashes, Hypoplasia...	ORPHA:920
Intellectual Developmental Disorder, Autosomal Dominant 1	Prominent nose, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Short columella, Scoliosis, S...	OMIM:156200
Peho Syndrome	Short nose	OMIM:260565
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Spinocerebellar tract degeneration	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Spinocerebellar tract degeneration	ORPHA:276241
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi...	OMIM:300952
Robinow Syndrome, Autosomal Recessive 1	Vertebral fusion, Hypoplastic sacrum, Depressed nasal bridge, Anteverted nares, Thoracic hemivert...	OMIM:268310
Kbg Syndrome	Syndactyly, Telecanthus, Single transverse palmar crease, Synophrys, Cutaneous syndactyly, Downsl...	OMIM:148050
Fetal Hydantoin Syndrome	Cryptorchidism, Short nose, Depressed nasal ridge	ORPHA:1912
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Long nose, Short nose, Low h...	OMIM:615866
C Syndrome	Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Scoliosis, Short nose	OMIM:211750
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Short nose	OMIM:613026
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sensorineural hearing impairment, Rod-cone dystrophy, Ataxia	OMIM:616084
Tuberous Sclerosis Complex	Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavior, Retinal hamartoma,...	ORPHA:805
Lacrimoauriculodentodigital Syndrome 1	Preaxial polydactyly, Radial deviation of the 3rd finger, Conical incisor, Conjunctivitis, Tripha...	OMIM:149730
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Hypoplasia of the thymus, Small earlobe, Agenesis of corpus callosum, Dandy-Walker ...	OMIM:264090
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Lumbar hyperlordosis, Prominent nasal bridge, Convex nasal ridge, Short neck, Cryptorc...	ORPHA:251028
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Trisomy 12P	Short nose, Wide nasal bridge, Short neck	ORPHA:1699
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Temporomandibular...	ORPHA:2388
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Hydrocephalus	OMIM:277400
Autosomal Recessive Robinow Syndrome	Death in infancy, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchi...	ORPHA:1507
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm...	ORPHA:3342
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Teebi-Shaltout Syndrome	Syndactyly, Turricephaly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bo...	OMIM:272950
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Agenesis of corpus callosum, Exa...	OMIM:312870
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Periventricular heterotopia, Chorioretinal lacunae, Retinal pigment epi...	OMIM:618733
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Pyloric stenosis, ...	OMIM:218040
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Micrognathia, Underdeveloped nasal alae, Lateral ventricle dilatation, High ...	OMIM:614098
Carey-Fineman-Ziter Syndrome	Ventriculomegaly, Anteverted nares, Scoliosis, Short nose, Hypertensive crisis	ORPHA:1358
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Vertebral fusion, Death in infancy, Bundle branch block, Anteverted nares,...	ORPHA:373
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Abnormal toe morphology, Abnormal finger morphology, Cranial asymmet...	OMIM:163200
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Abnormality of the nose, Underdeveloped nasal alae, Abnorm...	ORPHA:2710
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Compulsive behaviors, Conductive hearing impairment, Abnormal repetitive mannerisms, Hyperactivit...	ORPHA:353281
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short neck, Bulbous nose, Wide nasal bridge, Scoliosis, Short nose	OMIM:618571
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Trismus, Dental malocclusion, Broad palm...	OMIM:227330
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Beaking of vertebral bodies, Depressed nasal bridge, Thoracolumbar scoliosis, Kyphoscoliosis, Sho...	ORPHA:457395
Gaucher Disease, Type Iiic	Hydrocephalus, Opacification of the corneal stroma	OMIM:231005
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Hypopla...	OMIM:604292
Cockayne Syndrome Type 3	Kyphosis, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, ...	ORPHA:90324
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ...	ORPHA:50814
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Depressed nasal bridge	OMIM:617802
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Abnormality of neuronal migration, Atresia of the external auditory canal, Ho...	ORPHA:3186
Bloom Syndrome	Syndactyly, Chromosome breakage, Abnormality of chromosome stability, Microcephaly, Agenesis of m...	OMIM:210900
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Depressed nasal bridge, Broad columella	OMIM:617865
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Patent ductus arteriosus, Choanal stenosis, Short nose	ORPHA:1790
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Broad nasal tip, Subretinal pigment epithelium hemorrhage, Prominent veins on t...	ORPHA:357074
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Broad nasal tip, Wide nasal bridge, Scoliosis, Short nose, Dandy-Walker malformation	OMIM:614207
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Wide nasal bridge, Lateral ventricle dilatation, High palate, Vesicovagina...	OMIM:300896
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Depressed nasal bridge, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis, Short nose	OMIM:616723
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Posteriorly placed anus, Myelom...	OMIM:306955
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy, Postaxial polydactyly, Syndactyly	OMIM:605231
Liver Disease, Severe Congenital	Macrocephaly at birth, Micrognathia, Patent ductus arteriosus, Plagiocephaly, Umbilical hernia	OMIM:619991
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Syringomyelia, Anteverted nares, Short nose	ORPHA:357001
Stuve-Wiedemann Syndrome 1	Death in infancy, Anteverted nares, Ovoid vertebral bodies, Short neck, Pulmonary arterial medial...	OMIM:601559
Meier-Gorlin Syndrome 6	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Depressed na...	OMIM:616835
Fetal Alcohol Syndrome	Short nose, Anteverted nares, Vertebral segmentation defect	ORPHA:1915
Opsismodysplasia	Hypoplastic vertebral bodies, Short nose, Depressed nasal bridge, Abnormally ossified vertebrae	ORPHA:2746
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Short neck, Hypoplasia of the odontoid process, Hypopla...	OMIM:258480
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:105830
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation, Hypoplasia of the ma...	ORPHA:2554
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Myoclonic-Astatic Epilepsy	Syndactyly, Microcephaly	ORPHA:1942
Cowden Syndrome 5	Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Micrognathia	OMIM:615108
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Olivopontocerebellar ...	OMIM:212065
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Short nose, Prominent superficial veins, Narrow nasal ridge	OMIM:608612
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Bulbous nose, Pla...	OMIM:271510
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:242860
Trichothiodystrophy 1, Photosensitive	Death in infancy, Short nose, Hypogonadism, Telangiectasia	OMIM:601675
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Death in infancy, Underdeveloped nasal alae	ORPHA:2315
Neurodegeneration With Brain Iron Accumulation 2A	Short nose	OMIM:256600
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Coarctation of aorta, Short nos...	OMIM:244450
Deeah Syndrome	Death in infancy, Cervical hemivertebrae, Decreased heart rate variability, Short neck, Cryptorch...	OMIM:619004
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose, Scoliosis	ORPHA:329178
Spondylodysplastic Ehlers-Danlos Syndrome	Beaking of vertebral bodies, Prominent scalp veins, Congenital kyphoscoliosis, Anteverted nares, ...	ORPHA:536471
Cowden Syndrome 6	Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Micrognathia	OMIM:615109
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Short neck, Congestive heart failure, Short nose	OMIM:608779
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Micrognathia, Esophageal neoplasm, Oligozoospe...	ORPHA:125
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose	OMIM:613038
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C...	ORPHA:3260
Toluene Embryopathy	Cryptorchidism, Short nose	ORPHA:1920
Robinow Syndrome	Fused thoracic vertebrae, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal t...	ORPHA:97360
Cadds	Short nose, Ventriculomegaly	ORPHA:369942
Otopalatodigital Syndrome, Type I	Short nose, Wide nasal bridge, Scoliosis	OMIM:311300
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Sinusitis, Aplasia/Hypoplasia of the eyebrow	ORPHA:238468
Chops Syndrome	Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Anomalous pulmonary venous return, Ce...	OMIM:616368
Monosomy 9P	Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Cryptorchidism, Abnormalit...	ORPHA:261112
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hydrocephalus, Cataract	OMIM:261740
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Telangiectasia, Recurrent sinusitis, Short nose	OMIM:604173
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Patent ductus arteriosus, Six lumbar vertebrae, Pulmonary arterial hypert...	ORPHA:65286
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Intestinal obstruction, Primary testicular failure, Intestinal perforation, Oli...	ORPHA:85450
Dyskeratosis Congenita	Abnormal eyebrow morphology, Abnormal eyelash morphology, Hypoplasia of the maxilla, Carious teet...	ORPHA:1775
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Micrognathia, Abnormal tibia morphology, Hydrocephalus, Bone cyst, Genu valgum, Large hands, High...	ORPHA:363700
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Flat occiput, Congenital hip dislocation, Single transverse palmar ...	OMIM:216340
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Anteverted nares, Cryptorchidism, Bulbous nose, Coarctation of aorta, Scolio...	OMIM:601358
Limb-Mammary Syndrome	Syndactyly, Absent lacrimal punctum, Toe syndactyly, Chronic irritative conjunctivitis, Sparse ey...	ORPHA:69085
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose, Ventriculomegaly	OMIM:252160
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Micrognathia, High palate, Micropenis, Paroxysmal bursts of laughter, Hyperactivit...	OMIM:309580
Alg9-Cdg	Tricuspid regurgitation, Depressed nasal bridge, Underdeveloped nasal alae, Short neck, Wide ante...	ORPHA:79328
Singleton-Merten Syndrome 1	Ptosis, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth...	OMIM:182250
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio...	OMIM:613795
Stickler Syndrome	Epicanthus, Telecanthus, Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, ...	ORPHA:828
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Adenylosuccinase Deficiency	Short nose, Anteverted nares	OMIM:103050
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Anteverted nares, Abnormal dental enamel...	ORPHA:744
Cowden Syndrome 1	Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Micrognathia	OMIM:158350
Robinow Syndrome, Autosomal Recessive 2	Short nose, Anteverted nares, Wide nasal bridge, Broad nasal tip	OMIM:618529
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Marfan Syndrome	Retinal detachment, Micrognathia, High, narrow palate, Meningocele, Cleft palate, Attention defic...	ORPHA:558
Distal Deletion 9P	Short nose, Wide nasal bridge, Short neck	ORPHA:1642
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Anteverted nares, Short neck, Patent ductus arteriosus, Hyd...	ORPHA:280633
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Antley-Bixler Syndrome	Short nose, Anteverted nares, Choanal atresia	ORPHA:83
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Patent ductus arteriosus, Clinodactyly,...	ORPHA:1708
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Entropion, Overlapping toe, Blepharophimosis, Hypoplasia of the maxilla, H...	OMIM:617402
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short nose, Dandy-Walker malformation	ORPHA:2719
Autosomal Dominant Robinow Syndrome	Wide nose, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, H...	ORPHA:3107
Warburg Micro Syndrome 2	Cryptorchidism, Short nose, Prominent nasal bridge	OMIM:614225
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontal bossing, Syndactyly, Anterior pituitary hypoplasia, Postaxial polydactyly, Aqueductal ste...	OMIM:619534
Lymphangioleiomyomatosis	Retinal hamartoma, Hydrocephalus, Abnormal morphology of female internal genitalia, Optic atrophy	ORPHA:538
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:314655
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Depressed nasal bridge, Bulbous nose, Coarctation of aorta, Short nose	OMIM:614114
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Zttk Syndrome	Aortic regurgitation, Depressed nasal bridge, Dysplastic corpus callosum, Kyphosis, Patent ductus...	OMIM:617140
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Arrhythmia, Short nose, Vertebr...	OMIM:164200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Hydrocele testis, Short nose	OMIM:614080
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu...	OMIM:602875
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Umbilical hernia, Polymicrogyria, High palate, Syndactyly	OMIM:614520
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, B...	OMIM:613458
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Depressed nasal bridge, Arterial tortuosity, Pat...	OMIM:619472
Distal Duplication 5Q	Cryptorchidism, Short nose, Prominent nasal bridge	ORPHA:96097
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Cryptorchidism, Ecchymosis, Short columella, Mitra...	OMIM:601776
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Short nose	OMIM:266810
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Micrognathia, Narrow palpebral fissure, Downslanted...	OMIM:614437
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Short nose, Wide nasal bridge, Kyphoscoliosis	OMIM:618005
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Short nose, Ventriculomegaly	OMIM:617527
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Corpus callosum atrophy	OMIM:601162
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Short nose, Ventriculomegaly	ORPHA:521426
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Short neck, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Pulmon...	ORPHA:2282
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Anteverted nares, Choanal atresia	OMIM:610536
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Microlissencephaly-Micromelia Syndrome	Short nose, Short neck	ORPHA:50810
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Anteverted nares, Block vertebrae, Short neck, Broad nasal tip, Hyperlordosis, ...	OMIM:272460
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Partial anomalous pulmonary venous return, Scoliosis, Short no...	OMIM:301044
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Short neck, Spinal rigidity, Wide nasal bridge, Scoliosis, Short nose	OMIM:620369
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Short neck, Spinal cord compression, Wide anterior fontanel, Hypoplasia o...	OMIM:271665
Ring Chromosome 12 Syndrome	Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly	ORPHA:1439
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Sparse eyelashes, Absent eyelashes, Hypoplasia of the maxilla, Sparse eyebrow, Ta...	OMIM:305100
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Cryptorchidism, Death in childhood, Short nose, Convex nasal ridge	OMIM:300661
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Epistaxis	ORPHA:137667
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Short umbilical cord, Dysphagia	OMIM:618367
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Platyspondyly, Short nose	OMIM:154780
Dpagt1-Cdg	Intracranial hemorrhage, Prolonged QT interval, Scoliosis, Stroke-like episode	ORPHA:86309
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Agenesis of corpus callosum, Short nose	ORPHA:3339
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cryptorchidism, Short nose, Depressed nasal bridge, Scoliosis	OMIM:601353
Geleophysic Dysplasia 2	Mitral stenosis, Ovoid vertebral bodies, Tricuspid stenosis, Mitral regurgitation, Aortic valve s...	OMIM:614185
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ...	OMIM:619426
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Sacral dimple, Prominent nasal bridge, Underdeveloped nasal alae, Broad nas...	ORPHA:268261
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Short nose, Scoliosis	ORPHA:476126
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Acute Transverse Myelitis	Back pain, Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal libido, Priapism	ORPHA:139417
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Tethered cord, Anteverted nares, Depressed nasal bridge, Underdeveloped nasa...	OMIM:618332
Ctcf-Related Neurodevelopmental Disorder	Sacral dimple, Anteverted nares, Broad nasal tip, Cryptorchidism, Patent ductus arteriosus, Coarc...	ORPHA:363611
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Hypertrophi...	OMIM:609942
Baller-Gerold Syndrome	Narrow nasal bridge, Short nose, Prominent nasal bridge, Scoliosis	ORPHA:1225
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella, Short nose	ORPHA:364577
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Arrhythmia, ...	ORPHA:1519
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Testicular neoplasm	ORPHA:199244
Robinow Syndrome, Autosomal Dominant 1	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, Wide anterio...	OMIM:180700
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Kyphoscoliosis, Cryptorchidism, Telangiectasia, Hypogonadism, Short nose	OMIM:268400
Omodysplasia 1	Depressed nasal bridge, Short neck, Cryptorchidism, Pulmonary artery stenosis, Wide nasal bridge,...	OMIM:258315
Floating-Harbor Syndrome	Short metacarpal, Brachydactyly, Persistence of primary teeth, Avascular necrosis of the capital ...	ORPHA:2044
Noonan Syndrome 1	Male infertility, Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Sensorineu...	OMIM:163950
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage, Wide nasal bridge	OMIM:619714
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Wide nasal bridge, Narrow ...	OMIM:276820
Coffin-Lowry Syndrome	Wide nose, Anteverted nares, Kyphosis, Thick nasal septum, Lumbar kyphosis, Mitral regurgitation,...	OMIM:303600
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nare...	OMIM:269150
Trisomy 10P	Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Hemivertebrae, Short nose, Dan...	ORPHA:171929
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Anteverted nares, Coarctation of aorta, Platyspondyly, Short nose	ORPHA:50945
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro...	ORPHA:90062
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Ventriculomegaly	OMIM:252150
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle	ORPHA:261183
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Tethered cord, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short ne...	OMIM:617157
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Short nose, Lumbar hyperlordosis, Scoliosis	ORPHA:522077
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Fanconi Anemia, Complementation Group A	Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Hearing impairment	OMIM:227650
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Tethered cord, Anteverted nares, Broad nasal tip, Long nose, Cryptorchidism, Bulbous nose, Patent...	OMIM:619522
Dend Syndrome	Short nose, Anteverted nares	ORPHA:79134
Adams-Oliver Syndrome 5	Syndactyly, Umbilical hernia, Brachydactyly	OMIM:616028
Microphthalmia, Syndromic 1	Anophthalmia, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Microcornea,...	OMIM:309800
Okamoto Syndrome	Tethered cord, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal br...	ORPHA:2729
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short neck, Cryptorchidism, Wide nasal bridge, Total anomalous pulmonary venous return, Short nose	OMIM:609945
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Convex nasal ridge	ORPHA:90154
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Wiedemann-Steiner Syndrome	Sacral dimple, Short nose, Wide nasal bridge	ORPHA:319182
Geleophysic Dysplasia 1	Mitral stenosis, Anteverted nares, Tricuspid stenosis, Congestive heart failure, Aortic valve ste...	OMIM:231050
Femoral-Facial Syndrome	Truncus arteriosus, Underdeveloped nasal alae, Cryptorchidism, Absent vertebra, Hemivertebrae, Sc...	OMIM:134780
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Sacral dimple, Depressed nasal bridge, Thoracolumbar scoliosis, Portal hypertension, Prominent no...	OMIM:619503
Mismatch Repair Cancer Syndrome 1	Adenomatous colonic polyposis, Gray matter heterotopia, Adenocarcinoma of the small intestine, Ad...	OMIM:276300
Aspartylglucosaminuria	Beaking of vertebral bodies, Wide nasal bridge, Anterior beaking of lumbar vertebrae, Scoliosis, ...	ORPHA:93
Primrose Syndrome	Hip contracture, Ptosis, Epicanthus, Metatarsus adductus, Hypoplasia of the maxilla, Synophrys, G...	OMIM:259050
Orofaciodigital Syndrome Type 4	Decreased testicular size, Wide nose, Monorchism, Choanal atresia, Depressed nasal ridge, Short n...	ORPHA:2753
C Syndrome	Death in infancy, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchi...	ORPHA:1308
Cystinosis, Nephropathic	Male infertility, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Pigmentary reti...	OMIM:219800
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Williams-Beuren Syndrome	Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal tip, Retinal arteriolar tor...	OMIM:194050
Acrocephalopolydactylous Dysplasia	Short nose, Short neck	OMIM:200995
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness, Meningocele	ORPHA:1010
Cornelia De Lange Syndrome	Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Cryptorchidism, Primary am...	ORPHA:199
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Cerebral cortical atrophy	OMIM:277410
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Anteverted nares, Prominent nasal bridge	ORPHA:1974
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Sacral dimple, Cerebellar vermis hypoplasia, Thoracolumbar scoliosis, C...	ORPHA:480880
Mitochondrial Dna-Associated Leigh Syndrome	Focal T2 hyperintense basal ganglia lesion, Abnormality of Krebs cycle metabolism, Increased CSF ...	ORPHA:255210
Ayme-Gripp Syndrome	Short nose, Depressed nasal bridge, Wide nasal bridge, Pericarditis	OMIM:601088
Pallister-Killian Syndrome	Sacral dimple, Tethered cord, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Short nec...	OMIM:601803
Pmm2-Cdg	Pericarditis, Anteverted nares, Prominent nasal bridge, Hypogonadotropic hypogonadism, Prominent ...	ORPHA:79318
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity	OMIM:150800
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Friedreich Ataxia	Decreased pyruvate carboxylase activity	OMIM:229300
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251110
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251100
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Pulmonary arteriovenous malformation, Narrow nasal ridge, Hypertension, ...	OMIM:606721
Penile Agenesis	Atrophy of the spinal cord, Short nose, Depressed nasal bridge, Cryptorchidism	ORPHA:49
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Cystic Fibrosis	Male infertility, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Steatorrhea	OMIM:219700
1P21.3 Microdeletion Syndrome	Short nose, Broad nasal tip	ORPHA:293948
Axenfeld-Rieger Syndrome, Type 1	Aniridia, Hypoplasia of the maxilla	OMIM:180500
Mckusick-Kaufman Syndrome	Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly	OMIM:236700
Friedreich Ataxia 2	Hammertoe, Abnormal medulla oblongata morphology, Decreased pyruvate carboxylase activity	OMIM:601992

Histopathology

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

There is no histopathology data for Apaf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Apaf1.

No publications found that use IMPC mice or data for Apaf1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Apaf1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Apaf1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Apaf1^{tm3a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Apaf1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Apaf1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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