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Gene: Pgap1 MGI:2443342

Gene Summary

Name:

post-GPI attachment to proteins 1

Synonyms:

D230012E17Rik, 9030223K07Rik, 5033403E17Rik, PGAP1, oto

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Pgap1^em1(IMPC)J	HOM		Early adult	0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Electroretinography 3

Fundus file

2 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Pgap1 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 Pgap1 (2 diseases)
Human diseases predicted to be associated with Pgap1 (1372 diseases)

The table below shows human diseases associated to Pgap1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities		Cerebellar vermis hypoplasia, Depressed nasal bridge, Short neck, Microcephaly, Cerebral atrophy,...	OMIM:615802
Autosomal Recessive Spastic Paraplegia Type 67		Agenesis of corpus callosum	ORPHA:401820

The table below shows human diseases predicted to be associated to Pgap1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dwarfism With Tall Vertebrae	Increased vertebral height, Coxa vara	OMIM:126950
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Hypogonadotropic hypogonadism, Abnorma...	ORPHA:1387
Holoprosencephaly	Flat occiput, Anophthalmia, Short neck, Depressed nasal ridge, Panhypopituitarism, Abnormal form ...	ORPHA:2162
Cerebrooculonasal Syndrome	Cerebellar vermis hypoplasia, Anophthalmia, Brachycephaly, High palate, Conductive hearing impair...	OMIM:605627
Pseudotrisomy 13 Syndrome	Adrenal hypoplasia, Hemivertebrae, Hypotelorism, Holoprosencephaly, Agenesis of corpus callosum, ...	OMIM:264480
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Flat occiput, Abnormality of the ear, Brachycephaly, Abnormal finger morph...	ORPHA:2511
Holoprosencephaly 5	Depressed nasal bridge, Anteverted nares, Syntelencephaly, Microcephaly, Alobar holoprosencephaly...	OMIM:609637
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp...	OMIM:147250
Holoprosencephaly 2	Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Hypotelorism, Holoprosen...	OMIM:157170
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Short neck, Micrognathia, Pectus carinatum, Hypotelorism, Clinodactyly of ...	ORPHA:3082
Trisomy 18	Webbed neck, Pointed helix, Holoprosencephaly, Iris coloboma, Low-set, posteriorly rotated ears, ...	ORPHA:3380
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Depressed nasal ridge, Brachycephaly, Hypotelorism, Deeply set eye, Clinod...	OMIM:618672
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Microcephaly, Single naris, Cleft pal...	OMIM:142945
Microhydranencephaly, X-Linked	Holoprosencephaly	OMIM:306990
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Frontal bossing, Cloverleaf skull, Bowing of the long bones, Rhizom...	ORPHA:93267
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Chromosome 6Q11-Q14 Deletion Syndrome	Sacral dimple, Prominent nasal bridge, Broad nasal tip, Short neck, Microcephaly, Micrognathia, H...	OMIM:613544
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Microcephaly, Cyclopia...	ORPHA:280200
Trisomy 1Q	Anophthalmia, Hypotelorism, Agenesis of corpus callosum, Microretrognathia, Depressed nasal bridg...	ORPHA:261344
Chromosome 1Q41-Q42 Deletion Syndrome	Hypotelorism, Deeply set eye, Vertebral segmentation defect, High palate, Holoprosencephaly, Depr...	OMIM:612530
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Microcephaly, Abnormal rib morphology, Hypotelor...	ORPHA:276422
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Cyclopia, Absent nares,...	ORPHA:990
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Microc...	ORPHA:3186
Holoprosencephaly-Postaxial Polydactyly Syndrome	Adrenal hypoplasia, Micrognathia, Hypotelorism, Absent nares, Holoprosencephaly, Abnormality of t...	ORPHA:2166
Trisomy 13	Anophthalmia, High, narrow palate, Hypotelorism, Deeply set eye, Narrow chest, Iris coloboma, Cry...	ORPHA:3378
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly	OMIM:300706
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Hypotelorism, Clinodactyly of the 5th ...	OMIM:614701
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Autosomal Dominant Brachyolmia	Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Alobar holoprosencephaly, Micrognath...	OMIM:301043
Non-Distal Duplication 13Q	Arachnodactyly, Microcephaly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Aplasia/H...	ORPHA:1702
Acrootoocular Syndrome	Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath...	ORPHA:2980
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Cutis Laxa, Autosomal Recessive, Type Iib	Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Microc...	OMIM:612940
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology	ORPHA:163665
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Microcephaly, Pectus excavatum, Brachycephaly, Cleft palate, Hypotelorism,...	OMIM:268850
6P22 Microdeletion Syndrome	Finger syndactyly, Short neck, Hydrocephalus, Clinodactyly, Hypotelorism, Deeply set eye, Low-set...	ORPHA:251046
Holoprosencephaly 7	Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypotelorism, Hy...	OMIM:610828
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Increased vertebral heig...	OMIM:616817
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Abnormality of the malleus, Triphalangeal th...	ORPHA:949
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Microcephaly, Depressed nasal r...	OMIM:613885
Epiphyseal Dysplasia, Multiple, 6	Flat distal femoral epiphysis, Flat capital femoral epiphysis, Schmorl's node, Irregular distal f...	OMIM:614135
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Hypertelorism, Microcephaly, Radial club hand, Cleft palate, P...	ORPHA:2165
Holoprosencephaly 14	Frontal bossing, Anteverted nares, Absent septum pellucidum, Proboscis, Microcephaly, Alobar holo...	OMIM:619895
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short neck, Micrognathia, Clinodactyly, Hypotelorism, Hypoplasia of the brainstem, Hypothyroidism...	ORPHA:391408
Distal Deletion 10Q	Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Clinodactyly, Short metatarsal, Brach...	ORPHA:96148
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Depressed nasal ridge, Single naris, Panhy...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Depressed nasal ridge, Single naris, Panhy...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Depressed nasal ridge, Single naris, Panhy...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Depressed nasal ridge, Single naris, Panhy...	ORPHA:220386
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Frontal bossing, Brachydactyly, Anteverted nares, Posteriorly rotated ears, Micrognathia, Hyperte...	OMIM:613604
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Posteriorly rotated ears, Craniosynostosis, Hypertelorism, Long fi...	OMIM:613174
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Short neck, Micrognathia, High, narrow pala...	OMIM:620156
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Ab...	ORPHA:1104
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Cyclopia, Microcephaly, Pectus excavatum, Cryptorchidis...	ORPHA:261236
Craniotelencephalic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Hypote...	OMIM:218670
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Thoracic scoliosis, Prominent nose, Hypoplasia of the pons, Microcephaly, Partial agenesis of the...	OMIM:616171
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Micromelia, Micrognath...	ORPHA:2189
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Microcephaly, Pectus ...	ORPHA:1695
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, Hypotelorism, Deeply set eye, High palate, Narrow greater sciatic notch, Conductive...	OMIM:602471
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Prominent nasal bridge, Cam...	ORPHA:1703
Proboscis Lateralis	Anophthalmia, Single naris, Abnormality of the maxillary sinus, High palate, Holoprosencephaly, C...	ORPHA:141099
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Genu varum, Hypotelorism, Coronal cleft vertebrae, Abnormal calvaria mo...	ORPHA:1952
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Pierpont Syndrome	Posteriorly rotated ears, Wide nasal ridge, Uplifted earlobe, Short neck, Abnormal cortical gyrat...	ORPHA:487825
Alkuraya-Kucinskas Syndrome	Micrognathia, Hypotelorism, Webbed neck, Hypoplasia of the brainstem, High palate, Dandy-Walker m...	OMIM:617822
Cranioectodermal Dysplasia	Frontal bossing, Finger syndactyly, Brachydactyly, Anteverted nares, Abnormal dental enamel morph...	ORPHA:1515
Mosaic Trisomy 9	Micromelia, Short neck, Micrognathia, Hemivertebrae, Hypotelorism, Finger clinodactyly, High pala...	ORPHA:99776
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-...	OMIM:601812
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Hypotelorism, Tr...	ORPHA:794
Braddock Syndrome	Congenital muscular torticollis, Posteriorly rotated ears, Missing ribs, Pectus excavatum, Short ...	ORPHA:52047
Pierpont Syndrome	Short neck, Brachycephaly, Large fleshy ears, Deeply set eye, Short palm, Prominent fingertip pad...	OMIM:602342
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Anteverted nares, Overlapping toe, Kyphoscoliosis, Microcephaly, Mi...	OMIM:600118
Congenital Disorder Of Glycosylation, Type Iu	Cerebral white matter atrophy, Micrognathia, Hypotelorism, Secondary microcephaly, Cerebellar hyp...	OMIM:615042
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Frontoocular Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pectus excavatum, Hypotelorism, P...	OMIM:605321
Developmental And Epileptic Encephalopathy 87	Prominent nose, Hypertelorism, Bulbous nose, Cerebral atrophy, Hypotelorism, High palate, Scolios...	OMIM:618916
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Oculocerebrocutaneous Syndrome	Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Cryptorchidism, Abnormal thorax morphol...	OMIM:164180
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Anophthalmia, Esophageal atresia, Hydrocephalus, Cryptorchidism, Hemivertebrae,...	ORPHA:77298
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
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
Global Developmental Delay With Or Without Impaired Intellectual Development	Frontal bossing, Pectus excavatum, Bulbous nose, Hypotelorism, Plagiocephaly, Lateral ventricle d...	OMIM:618330
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microcephaly, Micrognathia, Cleft palate, Cerebellar hypoplasia, Low-set ears...	OMIM:616570
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Hypotelorism, Webbed neck, Conductive hearing impairment, Advanc...	ORPHA:2215
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Holoprosencephaly	OMIM:617967
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morpholog...	ORPHA:2180
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Diabetes mellitus, Posteriorly rotated ears, Depressed nasal bridge, Rocke...	OMIM:618622
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Microphthalmia With Limb Anomalies	Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, High...	OMIM:206920
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Frontal bossing, Rhizomelia, Hypoplastic iliac wing, Metaphyseal cupping, Hydro...	OMIM:300863
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Abnormal pinna morphology, Microcephaly, Pectus excavatum, Micrognathia, Bulbous n...	OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 13	Short neck, Hypertelorism, Wide nasal bridge, Mild microcephaly, Hypotelorism, Abnormal cerebral ...	OMIM:613192
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr...	OMIM:604864
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Coloboma, Conductive hearing impairment, Agenesis of corpus callosum, ...	OMIM:136760
Baraitser-Winter Syndrome 2	Abnormal pinna morphology, Short neck, Hypertelorism, Retrognathia, Coloboma, Lissencephaly, Seco...	OMIM:614583
Monosomy 18P	Kyphoscoliosis, Short neck, Pectus excavatum, Microcephaly, Micrognathia, Carious teeth, Brachyce...	ORPHA:1598
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
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, ...	ORPHA:163966
Endocrine-Cerebroosteodysplasia	Adrenal hypoplasia, Micrognathia, Micromelia, Preaxial polydactyly, Hypotelorism, Tibial bowing, ...	OMIM:612651
Holoprosencephaly 1	Diabetes insipidus, Proboscis, Microcephaly, Alobar holoprosencephaly, Adrenal hypoplasia, Hypote...	OMIM:236100
Vissers-Bodmer Syndrome	Intrauterine growth retardation, Holoprosencephaly	OMIM:619033
Trigonocephaly 1	Craniosynostosis, Microcephaly, High, narrow palate, Wide nasal bridge, Hypotelorism, Lumbar hemi...	OMIM:190440
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Abnormal occipital bone morphology, Hypoplasia of the pons, Cortical dyspl...	ORPHA:468631
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:615524
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou...	OMIM:601344
Holoprosencephaly-Craniosynostosis Syndrome	Brachydactyly, Craniosynostosis, Microcephaly, Coxa valga, Brachycephaly, Hypotelorism, Hypoplast...	ORPHA:2163
Ritscher-Schinzel Syndrome 4	Hypertelorism, Tapered finger, Cryptorchidism, Hip dislocation, Wide nasal bridge, Brachycephaly,...	OMIM:619435
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Low-set, posteriorly rotated ears, Fifth finger distal phalanx clinodactyly, Wide nasal bridge, M...	ORPHA:3369
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Microcephaly, Hypotelorism, Hypoplasia of the corpus callosum, Scoliosis, Cerebral wh...	OMIM:619091
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Trigonocephaly With Short Stature And Developmental Delay	Posteriorly rotated ears, Sagittal craniosynostosis, Wide nasal bridge, Hypotelorism, High palate...	OMIM:314320
Microphthalmia, Syndromic 3	Anophthalmia, Anterior pituitary hypoplasia, Hemivertebrae, Coloboma, Agenesis of corpus callosum...	OMIM:206900
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Intellectual Disability And Myopathy Syndrome	Lumbar hyperlordosis, Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Hypotelor...	OMIM:619719
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Harrod Syndrome	Arachnodactyly, Microcephaly, Long nose, Kyphosis, Cryptorchidism, Dental malocclusion, Protrudin...	ORPHA:2115
Diastrophic Dysplasia	Abnormal clavicle morphology, Cerebral calcification, Proximal placement of thumb, Micrognathia, ...	ORPHA:628
Trisomy 18P	Abnormal pinna morphology, Microcephaly, Underdeveloped nasal alae, High, narrow palate, Pyloric ...	ORPHA:1715
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Aqueduct...	OMIM:619512
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Micrognathia, Brachycephaly, Thoracic kyphosis, Narrow chest, High palate, Abnormal f...	ORPHA:163649
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Arachnodactyly, Hyperlordosis, Underdeveloped nasal alae, Micrognathia, Hypertelorism, Pectus car...	OMIM:300986
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Microcephaly, Abnormal nostril morphology, Hypotelorism, Micro...	ORPHA:3469
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Deeply set eye, Hypoplastic iliac wing, Cl...	OMIM:260660
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Frontal bossing, Sacral dimple, Craniosynostosis, Short neck, Underdeveloped nasal alae, Microgna...	ORPHA:1516
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Camptodactyly of finger, Microcephaly, Hiatus hernia, Aq...	ORPHA:2065
Cofs Syndrome	Cerebral calcification, Camptodactyly of finger, Short neck, Abnormal nasal morphology, Microceph...	ORPHA:1466
Tonne-Kalscheuer Syndrome	Decreased testicular size, Prominent nasal bridge, Microcephaly, Prominent nose, Micrognathia, Ve...	OMIM:300978
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Cerebral calcification, Micrognathia, Clinod...	ORPHA:2710
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
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Temtamy Syndrome	Brachydactyly, Dolichocephaly, Micrognathia, Hypertelorism, Short toe, Aplasia/Hypoplasia of the ...	ORPHA:1777
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Micrognathia, Metatarsus adductus, Osteop...	ORPHA:513456
Verheij Syndrome	Branchial cyst, Vertebral fusion, Anteverted nares, Optic nerve hypoplasia, Short neck, Broad nas...	OMIM:615583
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 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Lateral Meningocele Syndrome	Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bodies, High palate...	ORPHA:2789
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb...	ORPHA:2064
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Hypertelorism, Pectus excavatum,...	OMIM:219150
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Brachycephaly, Sho...	ORPHA:264200
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Simplified gyral pattern, Wide na...	OMIM:615760
Osteogenesis Imperfecta, Type Vi	Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodies, Beaki...	OMIM:613982
Seckel Syndrome 7	Microcephaly, Prominent nose, Abnormal carpal morphology, Hypotelorism, Central hypothyroidism, H...	OMIM:614851
Baraitser-Winter Syndrome 1	Short neck, Chorioretinal coloboma, Pachygyria, Agenesis of corpus callosum, Iris coloboma, Antev...	OMIM:243310
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
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
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
Vacterl With Hydrocephalus	Absence of the sacrum, Microtia, third degree, Anophthalmia, Spina bifida, Micrognathia, Aqueduct...	ORPHA:3412
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spermatogenic Failure 17	Male infertility	OMIM:617214
Chromosome 13Q14 Deletion Syndrome	Micrognathia, Anteverted ears, Hypotelorism, High palate, Holoprosencephaly, Chorioretinal colobo...	OMIM:613884
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Brachycephaly, Hypotel...	ORPHA:1225
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Preaxial h...	ORPHA:79113
Ring Chromosome 10 Syndrome	Frontal bossing, Aganglionic megacolon, Sandal gap, Short neck, Pectus excavatum, Micrognathia, H...	ORPHA:1438
Adams-Oliver Syndrome 2	Depressed nasal bridge, Microcephaly, Micrognathia, Hypertelorism, Bulbous nose, Hydrocephalus, C...	OMIM:614219
Prader-Willi Syndrome Due To Translocation	Flat occiput, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	ORPHA:177907
Spondylosis, Cervical	Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis	OMIM:184300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Microcephaly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis...	ORPHA:3268
Hadziselimovic Syndrome	Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Microcephaly, Hypotelorism, H...	OMIM:612946
Frontorhiny	Hypoplasia of the maxilla, Finger clinodactyly, Basal encephalocele, Iris coloboma, Low-set, post...	ORPHA:391474
Bresek Syndrome	Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cryptorch...	ORPHA:85284
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Micr...	ORPHA:1528
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Spina bif...	OMIM:184400
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hyperthyroidism, Micrognathia, Pectus excavatum, Hypotelorism, High palate, Cerebellar hypoplasia...	ORPHA:502423
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Posteriorly rotated ears, Microcephaly, Hypotelorism, Secondary microcephaly, High palate, Hypopl...	OMIM:616281
Walker-Warburg Syndrome	Anophthalmia, Protruding ear, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Dandy-Walker ...	ORPHA:899
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Hypotelorism, Prominent antihelix, Postaxial foot polydactyly, Short ...	OMIM:193530
Gombo Syndrome	Microcephaly, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachyda...	OMIM:233270
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Hydrocephalus, Clinodactyly, Unila...	OMIM:618577
Holoprosencephaly 11	Microcephaly, Cleft palate, Hypotelorism, Proptosis, Holoprosencephaly, Agenesis of corpus callosum	OMIM:614226
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Brachycephaly, Hypotelorism, Bifid uvula, Dandy-Walker malformation, Depressed na...	OMIM:300968
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Depressed nasal bridg...	ORPHA:2635
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Cerebral white matter atrophy, Micrognathia, Dental malocclusion, Hypotelorism, High palate, Cere...	ORPHA:329178
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
2Q23.1 Microduplication Syndrome	Broad hallux, Sandal gap, Prominent nose, Bulbous nose, Hypotelorism, Clinodactyly of the 5th fin...	ORPHA:313947
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Diffuse cerebral atrophy, Prominent nasal bridge, Kyphoscoliosis, Prom...	OMIM:214150
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe syndactyly, Camptodactyly of finger, Hypertelorism, Short ...	ORPHA:1617
Mosaic Variegated Aneuploidy Syndrome 2	Frontal bossing, Depressed nasal bridge, Decreased response to growth hormone stimulation test, C...	OMIM:614114
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Hypotelorism, Deeply set eye,...	OMIM:616975
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thor...	ORPHA:1797
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Craniodiaphyseal Dysplasia	Frontal bossing, Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide...	ORPHA:1513
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Hypoplasia of the pons, ...	ORPHA:411986
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Brachycephaly, High palate, Hypogonadism, Microphthalmia, Retrognathia	ORPHA:2528
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Mandibular prognathia, Brachycephaly, Abnormal form of the vertebral bodies, Pe...	ORPHA:1327
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
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
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Aplasia/Hypoplasia of the cerebellum, Hypertelori...	ORPHA:93262
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrena...	OMIM:220210
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Hypotelorism, Low-set ear...	OMIM:616395
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Depressed nasal bridge, Craniosynostosis, Hyper...	ORPHA:2117
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, Hypotelorism, Deeply set eye, Hippocampal atrophy, High palate, Hyp...	OMIM:619325
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the se...	ORPHA:138
Schilbach-Rott Syndrome	Posteriorly rotated ears, Microcephaly, Long nose, Prominent nose, Micrognathia, Submucous cleft ...	OMIM:164220
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Hemivertebrae, Abnormal sternum morphology, Parietal bossing, Iris colobom...	OMIM:109400
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Microcephaly...	ORPHA:2522
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Frontal bossing, Toe syndactyly, Anteverted nares, Abnormal pinna morphology, ...	ORPHA:261211
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Abnormal pinna morphology, Intestinal malrotation, Underdeveloped nasal alae, Pectus excavatum, K...	ORPHA:77300
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Thoracic scoliosis, Syndactyly, Posteriorly rotated ears, Rudimentary postaxial ...	OMIM:600325
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Sensorineural hearing...	ORPHA:2790
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hypotelorism, Frontal bossing, Low-set ears, Microcephaly	OMIM:618718
Lethal Osteosclerotic Bone Dysplasia	Posteriorly rotated ears, Anteverted nares, Short neck, Microcephaly, Micrognathia, Depressed nas...	ORPHA:1832
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Hyperte...	OMIM:122860
Lateral Meningocele Syndrome	Short neck, Micrognathia, High palate, Conductive hearing impairment, Vertebral fusion, Abnormali...	OMIM:130720
Li-Ghorbani-Weisz-Hubshman Syndrome	Depressed nasal bridge, Prominent nasal bridge, Overlapping toe, Hypotelorism, Hypoplasia of the ...	OMIM:618974
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Clinodactyly, Brachycephaly, Protruding ear, Hypotelorism, Deeply set eye, High pal...	OMIM:309590
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Kyphosis, Cryptorchidism,...	ORPHA:90322
Microcephaly-Micromelia Syndrome	Micromelia, Short neck, Aqueductal stenosis, Micrognathia, Simplified gyral pattern, Narrow chest...	OMIM:251230
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Cryptorchidism, Senso...	ORPHA:139471
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Hypertelorism, Postaxial hand polydactyly, Brach...	ORPHA:66625
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Hypotelorism, Deeply se...	OMIM:618454
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Depressed nasal bridge, Absent septum pellucidum, Diabetes insipidus, Microce...	OMIM:618500
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Hypertelorism, Micromelia, Split...	ORPHA:2145
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Narrow pelvis bone, Irregular vertebral ...	OMIM:187760
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Meckel diverticulum, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Age...	ORPHA:163961
Short Stature-Micrognathia Syndrome	Rhizomelia, Micrognathia, Microcephaly, Cryptorchidism, Bowing of the legs, Scaphocephaly, Metaph...	OMIM:617164
Hartsfield Syndrome	Syndactyly, Wide nose, Posteriorly rotated ears, Diabetes insipidus, Craniosynostosis, Microcepha...	OMIM:615465
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Posterior rib fusion, S...	OMIM:122600
Intellectual Developmental Disorder, Autosomal Recessive 5	Prominent nasal bridge, Microcephaly, Underdeveloped nasal alae, Prominent nose, Hypertelorism, 4...	OMIM:611091
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, ...	ORPHA:556955
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Marden-Walker Syndrome	Short neck, Micrognathia, High, narrow palate, Abnormal sternum morphology, Hypoplasia of the bra...	OMIM:248700
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Depressed nasal ridge, Brachycephaly, High palate, Clinodactyly of ...	ORPHA:1520
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Mosaic Trisomy 8	Short neck, Micrognathia, Protruding ear, Deeply set eye, Vertebral segmentation defect, High pal...	ORPHA:96061
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly, High palate, Chorioretina...	OMIM:234100
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Cole-Carpenter Syndrome	Communicating hydrocephalus, Frontal bossing, Turricephaly, Delayed eruption of teeth, Crumpled l...	ORPHA:2050
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Depressed nasal bridge, Megalencephaly, Hypertelorism, Hydrocephalus, Progressive mac...	OMIM:602501
Temtamy Syndrome	Frontal bossing, Lop ear, Micrognathia, Hypertelorism, Hip dislocation, Thick corpus callosum, Hy...	OMIM:218340
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Micrognathia, Glossoptosis, Vertebr...	OMIM:611209
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Joubert Syndrome 37	Frontal bossing, Wide nose, Lumbar hyperlordosis, Anteverted nares, Posteriorly rotated ears, Cer...	OMIM:619185
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Abnormally ossified vertebrae, Septo-optic dysplasia, Miss...	ORPHA:3301
Moebius Syndrome	Abnormal nasopharynx morphology, Short neck, Micrognathia, Hypoplasia of the brainstem, High pala...	OMIM:157900
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Overlapping toe, Short neck, Pectus excavatum, Hypertelorism,...	OMIM:618571
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Short neck, Micrognathia, Hypotelorism, Lobulated to...	OMIM:249000
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Prominent nose...	ORPHA:435638
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Kyphosis, Hypertelorism, Cryptorchidism...	OMIM:619123
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micrognathia, Brachycephaly, Pectus carinatum, Abnormal septum pellucidum morphology, Short palm,...	ORPHA:171839
Non-Syndromic Metopic Craniosynostosis	Trigonocephaly, Wide nasal bridge, Hypotelorism	ORPHA:3366
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Abnormal thymus morphology, Choana...	OMIM:219000
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, Webbed neck, Deeply s...	ORPHA:261337
1Q41Q42 Microdeletion Syndrome	Frontal bossing, Depressed nasal bridge, Hypergonadotropic hypogonadism, Underdeveloped nasal ala...	ORPHA:250999
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Frontal bossing, Cerebral calcification, Hypogonadotropi...	ORPHA:377
Chromosome 13Q33-Q34 Deletion Syndrome	Micrognathia, Brachycephaly, Anteriorly placed anus, Deeply set eye, High palate, Narrow chest, A...	OMIM:619148
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches...	OMIM:616300
Ring Chromosome 7 Syndrome	Mandibular prognathia, Brachycephaly, Hypotelorism, Holoprosencephaly, Clinodactyly of the 5th fi...	ORPHA:1449
Monosomy 9P	Proximal placement of thumb, Short neck, Micrognathia, Brachycephaly, Anotia, High palate, Agenes...	ORPHA:261112
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Kyphoscoliosis, Microcephaly, Prominent nose, Micrognathia, Camptodactyly of ...	OMIM:610756
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Posteriorly rotated ears, Short neck, Pectus excavatum, Microcephaly, Mic...	OMIM:156610
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Cerebrooculofacioskeletal Syndrome 4	Micrognathia, Simplified gyral pattern, Deeply set eye, Dislocated radial head, Bilateral microph...	OMIM:610758
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r...	ORPHA:2345
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Frontal bossing, Depressed nasal bridge, Supernumerary nipple, Microcephaly, Hypertelorism, Bulbo...	OMIM:620098
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Hypotelorism, Hypoplasia of the corpus callosum, Low-set ears, Microcephaly	ORPHA:477673
Sandestig-Stefanova Syndrome	Rocker bottom foot, Short neck, Clinodactyly, Wide nasal bridge, High palate, Low-set ears, Angul...	OMIM:618804
Crouzon Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Convex nasal ridge, Hypertelorism, Hypoplasia of ...	ORPHA:207
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Depressed nasal bridge, Anteverted...	ORPHA:228390
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Koolen-De Vries Syndrome	Anteverted ears, Hypotelorism, High palate, Prominent fingertip pads, Vertebral fusion, Cryptorch...	OMIM:610443
Trichothiodystrophy	Craniosynostosis, Microcephaly, Cerebral dysmyelination, High, narrow palate, Partial agenesis of...	ORPHA:33364
Focal Dermal Hypoplasia	Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, ...	OMIM:305600
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Hypertelorism, Hypoplasia of the maxilla, Co...	OMIM:109120
Septopreoptic Holoprosencephaly	Megalencephaly, Hypoplasia of the pons, Microcephaly, Precocious puberty, Perisylvian polymicrogy...	ORPHA:280195
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Arachnodactyly, Micrognathia, Hypertelorism, Bulbous n...	OMIM:615656
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h...	OMIM:256050
Craniosynostosis 2	Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern...	OMIM:604757
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Anteverted nares, Down-sloping shoulders, Microcephaly, Pectus excavatum, Micrognathia...	OMIM:619694
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Short neck, Micrognathia, Conductive hearing impairmen...	OMIM:113620
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Micrognathia, Brachycephaly, High palate, Anteverted nares, Depressed nasal bridge,...	OMIM:613792
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Frontal bossing, Cerebellar vermis hypoplasia, Prominent nose, Long nose, ...	OMIM:300486
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi...	OMIM:300232
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Hemivertebrae,...	OMIM:214800
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Abnormal tibia morphology, Coloboma, Vertebral segmentation defect, Sho...	ORPHA:251014
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Broad nasal tip, Tap...	OMIM:619680
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Hypoplasia of ...	ORPHA:861
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Hypotelorism, Deeply set eye, Anteverted nares, Broad hallux, Tapered finger, Scoliosis, Retrogna...	OMIM:301044
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ...	OMIM:212720
Jacobsen Syndrome	Flat occiput, Short neck, Micrognathia, Holoprosencephaly, Chorioretinal coloboma, Clinodactyly o...	OMIM:147791
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly	OMIM:601370
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Camptodactyly of finger, Short neck, Microcephaly, Micrognathia, Aplasia/Hypopla...	ORPHA:2570
Ciliary Dyskinesia, Primary, 50	Male infertility, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Chronic si...	OMIM:620356
Trichothiodystrophy 8, Nonphotosensitive	Hypotelorism, Retrognathia, Protruding ear, Prominent nose	OMIM:619691
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Microc...	ORPHA:398156
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Amyotrophy, Hereditary Neuralgic	Depressed nasal bridge, Cleft palate, Hypotelorism, Deeply set eye, Low-set ears, Long nasal bridge	OMIM:162100
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Micrognathia, Absent thumb, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Thickened helices, Sh...	ORPHA:1587
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte...	ORPHA:2311
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Wiedemann-Rautenstrauch Syndrome	Short neck, Micrognathia, Brachycephaly, Hypotelorism, Deeply set eye, Hypoplasia of the thymus, ...	OMIM:264090
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Pectus excavatum, High, narrow pala...	ORPHA:1101
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Microcephaly	OMIM:616335
Fibrochondrogenesis 2	Frontal bossing, Anteverted nares, Hypoplastic ischia, Micrognathia, Metaphyseal cupping, Cupped ...	OMIM:614524
Femoral-Facial Syndrome	Maternal diabetes, Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of ...	ORPHA:1988
Cole-Carpenter Syndrome 2	Microretrognathia, Frontal bossing, Turricephaly, Hypertelorism, Pectus excavatum, Kyphosis, Hydr...	OMIM:616294
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Hypertelorism, Kyphosis, Cryptorchidism, B...	OMIM:615433
Microphthalmia, Syndromic 6	Anophthalmia, Uplifted earlobe, Micrognathia, Adrenal hypoplasia, Brachycephaly, Protruding ear, ...	OMIM:607932
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Short neck, Prominent nose, Micrognathia, Brachycephaly, Protruding ear, H...	OMIM:612474
Fraser Syndrome	Cleft ala nasi, Anophthalmia, Vertebral segmentation defect, High palate, Conductive hearing impa...	ORPHA:2052
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring...	OMIM:156530
Meckel Syndrome	Anophthalmia, Micrognathia, Depressed nasal ridge, Dandy-Walker malformation, Low-set, posteriorl...	ORPHA:564
Achondrogenesis Type 1B	Thickened nuchal skin fold, Frontal bossing, Anteverted nares, Micromelia, Short neck, Micrognath...	ORPHA:93298
10Q22.3Q23.3 Microdeletion Syndrome	Intestinal polyposis, Frontal bossing, Microretrognathia, Curved middle phalanx of the 4th toe, D...	ORPHA:276413
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Prominent nasal bridge, Microcephaly, Pectus excavatum, Microg...	ORPHA:1131
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ...	ORPHA:1248
Cat-Eye Syndrome	Hypertelorism, Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Ir...	ORPHA:195
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Brachycephaly, Long thorax...	OMIM:617925
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Micrognathia, Abnormal nasal mo...	ORPHA:404440
Microphthalmia, Syndromic 13	Kyphoscoliosis, Microcephaly, Anteverted ears, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:300915
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Cebalid Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Platystencephaly, Brachycephaly, Depresse...	OMIM:618774
Distal Monosomy 7Q36	Short neck, Pectus excavatum, Microcephaly, Bulbous nose, Micrognathia, Cryptorchidism, Cleft pal...	ORPHA:1636
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, High, narrow palate, Pectus carinatum, Cavum septum pellucidum, Dilated th...	ORPHA:464738
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Pr...	ORPHA:1488
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Frontal bossing, Microcephaly, Micrognathia, Cryptorchidism, A...	ORPHA:1926
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Anisospondyly, Hypertelorism, Short thorax, Abnormal rib morphology, ...	ORPHA:2484
Isolated Cleft Lip	Velopharyngeal insufficiency, Abnormal Eustachian tube morphology, Supernumerary maxillary inciso...	ORPHA:199302
Glutathionuria	Agenesis of corpus callosum, Hypotelorism	OMIM:231950
Coffin-Siris Syndrome 1	Partial agenesis of the corpus callosum, Brachycephaly, Hypotelorism, Prominent interphalangeal j...	OMIM:135900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Beaded ribs, Short neck, Micrognathia, Brachycephaly, Large fleshy ears, Anteverted nares, Hypert...	OMIM:616897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Abnormally large globe, Sensorineural hearing impairment, Hydrocephalus, Coloboma, ...	OMIM:615249
Craniosynostosis 6	Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Parietal foramina, Hyper...	OMIM:616602
Trisomy 8P	Short fourth metatarsal, Short neck, Aplasia/Hypoplasia of the gallbladder, Conductive hearing im...	ORPHA:264450
Congenital Disorder Of Glycosylation, Type Iif	Flat occiput, Microcephaly, Hypotelorism, Deeply set eye, Webbed neck, Clinodactyly	OMIM:603585
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Deeply set eye, Promin...	OMIM:618494
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Abnormal shoulder morphology, Long thorax, Chorioretinal coloboma, ...	ORPHA:568
Mmep Syndrome	Mandibular prognathia, Microcephaly, Cryptorchidism, Split foot, Triphalangeal thumb, Microphthalmia	ORPHA:3434
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Rocker bottom foot, Camptodactyly o...	ORPHA:251056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Partial agenesis of the corpus callosum, Deeply set eye, Hypoplasia of the brainstem, Pachygyria,...	OMIM:614643
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal widening, Pectus cari...	OMIM:182212
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Short neck, Brachycephaly, High palate, Syndactyly, Depressed nasal bridge...	ORPHA:369891
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Malar prominence, Kyphosis,...	ORPHA:48431
Basel-Vanagaite-Smirin-Yosef Syndrome	Anteverted nares, Uplifted earlobe, Microcephaly, Hypertelorism, Kyphosis, Microphthalmia, 2-3 to...	OMIM:616449
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Micrognathia, Choanal stenosis, Severe sensorineural hearing ...	OMIM:620186
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Prominent nasal bridge, Ag...	OMIM:614424
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int...	ORPHA:1908
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Cervical platyspondyly, Anteverted nares, Microcephaly, Hypertelorism, Protruding ear, Plagioceph...	OMIM:618731
Mend Syndrome	Micrognathia, High palate, Abnormal nasal bridge morphology, Dandy-Walker malformation, Broad hal...	ORPHA:401973
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Hypotelorism, ...	OMIM:181270
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Depressed nasal bridge, Micromelia, Microcephaly, Microg...	OMIM:241800
Microcephalic Primordial Dwarfism, Dauber Type	Microcephaly, Prominent nose, Abnormal carpal morphology, Hypotelorism, Bilateral breast hypoplas...	ORPHA:319675
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short palm, Frontal bossing, Posteriorly rotated ears, Depressed nasal bridge, Decreased response...	OMIM:241410
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum	OMIM:274270
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Thoracic hemivertebrae, Short middle phalanx of finger, Scoliosis	OMIM:309620
Three M Syndrome 2	Short neck, Pectus carinatum, Protruding ear, High palate, Scapular winging, Lumbar hyperlordosis...	OMIM:612921
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E...	ORPHA:2616
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Micrognathia, Postnatal growth retardation, Cryptorchidism, Brachycephaly, Intraute...	OMIM:615419
Aicardi Syndrome	Partial agenesis of the corpus callosum, Protruding ear, Chorioretinal coloboma, Aplasia/Hypoplas...	ORPHA:50
Mycophenolate Mofetil Embryopathy	Micrognathia, Hypertelorism, Hydrocephalus, Tracheoesophageal fistula, Bifid thoracic vertebrae, ...	ORPHA:268249
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Lumbar hyperlordosis, Optic nerve hypoplasia, Olivopontocerebellar hypop...	ORPHA:370959
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastr...	ORPHA:2538
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Holoprosencephaly, Anterior encephalocele	OMIM:601357
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing ribs, Micrognathia, Hyperte...	OMIM:617866
Lig4 Syndrome	Microcephaly, Prominent nose, Hypothyroidism, Cryptorchidism, Wide nasal bridge, Brachycephaly, H...	OMIM:606593
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Delayed eruption of pri...	ORPHA:90321
Fibrochondrogenesis	Micromelia, Short neck, Abnormal form of the vertebral bodies, Narrow chest, Broad ribs, Antevert...	ORPHA:2021
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Supernumerary nipple, Microcepha...	ORPHA:1236
Alazami Syndrome	Wide nose, Severe short stature, Depressed nasal bridge, Wide nasal bridge, Retractile testis, Ma...	OMIM:615071
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Stevenson-Carey Syndrome	Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Brachycephaly, Coloboma, H...	OMIM:611961
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Congenital hip dislocatio...	OMIM:618291
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ...	OMIM:619426
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Cerebellar vermis hypoplasia, Bilateral cryptorchidism...	OMIM:613451
Trisomy 12P	Thickened nuchal skin fold, Turricephaly, Supernumerary nipple, Short neck, Micrognathia, Hyperte...	ORPHA:1699
Mosaic Trisomy 1	Thoracic scoliosis, Cerebellar vermis hypoplasia, Finger clinodactyly, Absent distal interphalang...	ORPHA:1692
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Short neck, Micrognathia, Brachycephaly, Short palm, Clinodactyly o...	OMIM:620073
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Vertebral hypoplasia, En...	OMIM:108720
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Contracture of the proximal interpha...	OMIM:300166
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Microcephaly, Cryptorchidism, Thick corpus callosum, Brachyc...	OMIM:617798
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se...	ORPHA:90652
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:93274
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Redundant neck skin, Micrognathia, Proxima...	ORPHA:397715
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Cerebral calcification, Micrognathia, High, narrow palate, Brachycephaly, Conductiv...	ORPHA:2780
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve...	ORPHA:87
Linear Skin Defects With Multiple Congenital Anomalies 2	Posteriorly rotated ears, Sandal gap, Microcephaly, Hypertelorism, Hypoplasia of the corpus callo...	OMIM:300887
Renpenning Syndrome	Mandibular prognathia, Decreased testicular size, Diabetes mellitus, Prominent nose, Pectus excav...	ORPHA:3242
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig...	ORPHA:3258
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Short neck, Micrognathia, Bowing of the legs, Narrow chest, Anisospondyly, Encephaloc...	ORPHA:1865
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Pectus excavatum, Cryptorchidism, Anosmia, Cleft palate, Hypotelor...	OMIM:244200
Achondrogenesis Type 1A	Short palm, Multiple rib fractures, Frontal bossing, Thickened nuchal skin fold, Anteverted nares...	ORPHA:93299
Ring Chromosome 21 Syndrome	Holoprosencephaly	ORPHA:1445
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the lens, Short neck, Hyperteloris...	ORPHA:85194
Fanconi Anemia, Complementation Group D2	Aplasia of the 1st metacarpal, Hypotelorism, Agenesis of corpus callosum, Hypertelorism, Esophage...	OMIM:227646
3C Syndrome	Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Chorioretinal c...	ORPHA:7
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Microcephaly	ORPHA:2435
Aicardi Syndrome	Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the corpus callosu...	OMIM:304050
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nare...	OMIM:619879
Oculodentodigital Dysplasia, Autosomal Recessive	Micrognathia, Long nose, Hypoplasia of the maxilla, Brachycephaly, Deeply set eye, Hypoplasia of ...	OMIM:257850
Vici Syndrome	Hypertelorism, Hypoplasia of the pons, Sensorineural hearing impairment, Depressed nasal tip, Hyp...	ORPHA:1493
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Coloboma, Vertebral segmentat...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Coloboma, Vertebral segmentat...	ORPHA:352665
Axial Mesodermal Dysplasia Spectrum	Short neck, Missing ribs, Micrognathia, Hydrocephalus, Hypertelorism, Abnormal rib morphology, Tr...	ORPHA:1834
Malan Overgrowth Syndrome	Frontal bossing, Depressed nasal bridge, Optic disc hypoplasia, Pectus excavatum, Scaphocephaly, ...	ORPHA:420179
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Hypertelorism, Abnorma...	ORPHA:2563
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen...	OMIM:615771
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Abnormal pinna morphology, Prominent nasal bridge, Hypogonadotropic hy...	ORPHA:3068
Microtia	Holoprosencephaly	ORPHA:83463
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno...	ORPHA:1426
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 toe syndactyly, L...	OMIM:618914
Steinfeld Syndrome	Absent gallbladder, Hypoplasia of the ulna, Median cleft lip and palate, Abnormal pinna morpholog...	OMIM:184705
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormon...	OMIM:101800
Apert Syndrome	Mandibular prognathia, Delayed epiphyseal ossification, Brachycephaly, Pectus carinatum, Cutaneou...	OMIM:101200
Cranioectodermal Dysplasia 1	High, narrow palate, Protruding ear, Hypotelorism, High palate, Narrow chest, Anteverted nares, R...	OMIM:218330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Coloboma, Vertebral segmentation defect, High palate, Shallow orbits, Hypothyroidism, Bifid uvula...	ORPHA:453499
Muenke Syndrome	Brachycephaly, Coronal craniosynostosis, High palate, Short middle phalanx of toe, Thimble-shaped...	OMIM:602849
Lambotte Syndrome	Intrauterine growth retardation, Semilobar holoprosencephaly	OMIM:245552
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Brachycephal...	ORPHA:950
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Cerebellar vermis hypoplasia, Anteverted nare...	ORPHA:494344
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, ...	ORPHA:2645
Pseudodiastrophic Dysplasia	Frontal bossing, Lumbar hyperlordosis, Anteverted nares, Phalangeal dislocation, Rhizomelia, Shor...	OMIM:264180
Stromme Syndrome	Cerebellar vermis hypoplasia, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Mi...	OMIM:243605
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, ...	OMIM:167730
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Hypertelorism, Abnormal rib morphology, Dol...	ORPHA:2475
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormone stimulati...	OMIM:616007
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Micrognathia, Abnormality of the ear, Agenesis of corpus callosum, Abnormality of t...	ORPHA:2556
Warburg Micro Syndrome 3	Decreased testicular size, Kyphoscoliosis, Microcephaly, Micrognathia, Macrotia, Brachycephaly, N...	OMIM:614222
Triploidy	Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Short neck, Microgn...	ORPHA:3376
Giacheti Syndrome	Hypotelorism	OMIM:612917
Chromosome 15Q26-Qter Deletion Syndrome	Short stature, Micrognathia, Cryptorchidism, Wide nasal bridge, Intrauterine growth retardation, ...	OMIM:612626
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Decreased response to growth hormone stim...	ORPHA:763
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Sensorineural hearing impair...	OMIM:615636
Thanatophoric Dysplasia, Type I	Short neck, Femoral bowing, Narrow chest, Cloverleaf skull, Small abnormally formed scapulae, Wid...	OMIM:187600
Atelosteogenesis, Type Iii	Cervical kyphosis, Short neck, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Radial bow...	OMIM:108721
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetrapho...	OMIM:215140
Micro Syndrome	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, ...	ORPHA:2510
Distal Deletion 13Q	Encephalocele, Anencephaly, Holoprosencephaly	ORPHA:1590
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Micrognathia, Prominent interphalangeal joints, Aplasia/Hypoplasia of the capital femoral epiphys...	OMIM:215150
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Depressed nasal brid...	OMIM:151210
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Raine Syndrome	Mandibular prognathia, Cerebral calcification, Micromelia, Short neck, Micrognathia, Brachycephal...	OMIM:259775
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Depressed nasal bridge, Anteverted nares, Broad hallux, Microcephaly, Hypertelor...	OMIM:614105
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Monosomy 9Q22.3	Delayed eruption of teeth, Ovarian fibroma, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus...	ORPHA:77301
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnorm...	ORPHA:2462
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Micrognathia, Short neck, Hypertelorism, Abnormal rib morpholo...	ORPHA:1486
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Anteverted nares, Mi...	OMIM:619135
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Microcephaly, Low hanging columella, Bilateral microphthalmos, Hemivertebrae, Unil...	OMIM:619318
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Coloboma, Microphthalmia, Type II ...	ORPHA:324416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp...	OMIM:613153
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Abnormal calvaria morphology, Median cleft palate	ORPHA:2432
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Frontal bossing, Abnormally ossified vertebrae, Depressed nasal b...	ORPHA:35173
1Q21.1 Microdeletion Syndrome	Deeply set eye, High palate, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Iris co...	ORPHA:250989
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Thoracic scoliosis, Flat occiput, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of...	ORPHA:300570
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Short neck, Micrognathia, Kyphosis, Type II ...	ORPHA:3191
Degcags Syndrome	Prominent nose, Micrognathia, Hypotelorism, High palate, Agenesis of corpus callosum, Syndactyly,...	OMIM:619488
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat...	OMIM:269250
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Frontal bossing, Short neck, Micrognathia, Hypertelorism, Partial agenesis of the corpus callosum...	OMIM:620250
Braddock-Carey Syndrome 2	Microcephaly, Bulbous nose, Cleft palate, Atresia of the external auditory canal, Microphthalmia,...	OMIM:619981
Witteveen-Kolk Syndrome	Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Proximal place...	OMIM:613406
Lujan-Fryns Syndrome	Arachnodactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Pectus excavatum, ...	ORPHA:776
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip, Depressed...	ORPHA:1791
Fg Syndrome Type 1	Prominent nose, Micrognathia, Abnormal sternum morphology, High palate, Finger syndactyly, Hypert...	ORPHA:93932
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short...	OMIM:252100
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital kyphoscoliosis, Congenital hip dislocation, Arachnodactyly, Kyphoscoliosis, Micrognath...	ORPHA:536545
Dysostosis, Stanescu Type	Cerebral calcification, Micromelia, Short neck, Hypoplasia of the maxilla, Brachycephaly, Abnorma...	ORPHA:1798
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypertelorism, Hypoplasia of t...	OMIM:123500
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Microcephaly, Micrognathia, Cleft palate, Ve...	ORPHA:1915
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Microcephaly, Micrognathia, Hypertelorism, 2-3 toe syndactyly, Cleft palate, Abn...	OMIM:239800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Fused cervical...	OMIM:618469
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Coloboma, Thoracic kyphosis,...	ORPHA:508498
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic il...	OMIM:169550
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short stature, Midface retrusion, Broad nasal tip	ORPHA:2776
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An...	OMIM:164210
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe...	OMIM:223800
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Abnormal pinna morphology, Rhizomelia, Kyphoscoliosis, Short neck, Postaxial pol...	OMIM:302960
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
3-Hydroxyisobutyric Aciduria	Intrauterine growth retardation, Hypogonadotropic hypogonadism, Triangular face, Micrognathia	ORPHA:939
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick...	ORPHA:79345
Otospondylomegaepiphyseal Dysplasia	Short neck, Micrognathia, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph...	ORPHA:1427
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Short neck, Microcephaly, Decreased response to...	OMIM:609053
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hydrocephalus, Preaxial polydactyly, Coloboma, Hypogonadism, Delay...	ORPHA:141333
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma...	OMIM:201000
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Abnormally large globe, Micrognathia, Hypertelorism, Hypoplastic pub...	OMIM:614592
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Microcephaly, Hypertelorism, Short thumb, Hypoplasia of the radius, Ab...	ORPHA:2319
Phaver Syndrome	Broad hallux phalanx, Depressed nasal bridge, Posteriorly rotated ears, Camptodactyly of finger, ...	ORPHA:2876
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Brachycephaly, Abnor...	ORPHA:175
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Brachycephaly, Decreased testicu...	ORPHA:93950
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Frontal bossing, Short neck, Microcephaly, Micrognathia, Hyper...	ORPHA:98791
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Microcephaly, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Hyp...	ORPHA:2399
Alagille Syndrome	Frontal bossing, Hypoplasia of the ulna, Micrognathia, Long nose, Hypertelorism, Cryptorchidism, ...	ORPHA:52
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Short neck, Microcephaly...	ORPHA:314621
Lymphedema, Primary, With Myelodysplasia	Long fingers, Tapered finger, Webbed neck, Hypotelorism	OMIM:614038
49,Xxxxy Syndrome	Mandibular prognathia, Short neck, Depressed nasal ridge, Brachycephaly, Holoprosencephaly, Chron...	ORPHA:96264
Galloway-Mowat Syndrome 9	Microcephaly, Hiatus hernia, Hypertelorism, Hypotelorism, Cerebral cortical atrophy, Secondary mi...	OMIM:619603
Maternal Phenylketonuria	Anteverted nares, Microcephaly, Micrognathia, Esophageal atresia, Bifid distal phalanx of the thu...	ORPHA:2209
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Posteriorly rotated ears, Underdeveloped nasal alae, Short neck, Micr...	OMIM:263210
Donnai-Barrow Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Intestinal malrotation, Broad nasal tip, Hypert...	OMIM:222448
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the ...	OMIM:618736
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger...	OMIM:119600
Vici Syndrome	Wide nose, Schizencephaly, Depressed nasal bridge, Cerebellar vermis hypoplasia, Microcephaly, Mi...	OMIM:242840
Trisomy 9P	Sacral dimple, Short neck, Abnormal nasal morphology, Kyphosis, Microcephaly, Hypertelorism, Brac...	ORPHA:236
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Frontal bossing, Microretrognathia, Br...	OMIM:200610
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening...	OMIM:602535
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of ...	ORPHA:2547
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Lambert Syndrome	Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly	ORPHA:1296
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Prominent nose, Micrognathia, Hemivertebrae,...	OMIM:156200
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Short neck, Abnormally large globe, Micrognathia, Brachycephaly, Pectus carinatum, Shoulder dislo...	OMIM:245600
Larsen-Like Syndrome	Frontal bossing, Kyphoscoliosis, Hypertelorism, Dental malocclusion, Brachycephaly, Cleft palate,...	OMIM:608545
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Macroglossia, Hypoplasia of the brains...	OMIM:613155
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, ...	OMIM:224400
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Micrognathia, Short tubular bones of the hand, Coxa valga, Vertebral ar...	ORPHA:85184
Ohdo Syndrome, X-Linked	Prominent nose, Micrognathia, High palate, Narrow chest, Depressed nasal bridge, Hiatus hernia, H...	OMIM:300895
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu...	ORPHA:3472
Dysosteosclerosis	Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie...	OMIM:224300
Mosaic Variegated Aneuploidy Syndrome 1	Short neck, Hypodysplasia of the corpus callosum, Micrognathia, Brachycephaly, Agenesis of corpus...	OMIM:257300
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Cerebellar vermis hypoplasia, Short neck, Hypertelo...	ORPHA:1394
Otodental Syndrome	High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Anteverted nares, Abn...	ORPHA:2791
Pallister-Hall Syndrome	Adrenal hypoplasia, Hemivertebrae, Depressed nasal ridge, Gonadotropin deficiency, Holoprosenceph...	ORPHA:672
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Iri...	ORPHA:193
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short stature, Anteverted nares, Prominent nasal bridge, Aggressive ...	OMIM:300558
Three M Syndrome 1	Mandibular prognathia, Frontal bossing, Triangular face, Short stature, Anteverted nares, Depress...	OMIM:273750
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Micrognathia, Hydrocephalus, Hypertel...	ORPHA:363700
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Deeply set eye, Hypoplastic iliac w...	OMIM:139210
Heart And Brain Malformation Syndrome	Attached earlobe, Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted nares, Posteri...	OMIM:616920
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Anteverted nares, Choanal atres...	ORPHA:83
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Posteriorly rotated ears, Short neck, Micrognathia, High, narrow palate, Bulbo...	ORPHA:1787
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Deeply set eye, Short palm, Clinodactyly of the 5th finger, Branchial fistul...	ORPHA:261330
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Brachycep...	ORPHA:3103
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor...	ORPHA:314585
Grant Syndrome	Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Abnormal rib mor...	ORPHA:2097
Robinow Syndrome, Autosomal Dominant 2	Micrognathia, Clinodactyly, Conductive hearing impairment, Calvarial osteosclerosis, Depressed na...	OMIM:616331
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Prominent nasal bridge, Broad nasal tip, Long nose, Microcephaly, Sensorineura...	OMIM:616541
Fryns Syndrome	Short neck, Micrognathia, High palate, Narrow chest, Clinodactyly of the 5th finger, Agenesis of ...	ORPHA:2059
Oculocerebrocutaneous Syndrome	Finger syndactyly, Short distal phalanx of finger, Congenital hip dislocation, Missing ribs, Exte...	ORPHA:1647
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Cerebellar vermis hypoplasia, Depressed nasal bridge, Sagittal craniosynos...	ORPHA:459061
Kapur-Toriello Syndrome	Overlapping fingers, Intestinal malrotation, Camptodactyly of finger, Short neck, Cryptorchidism,...	OMIM:244300
Kapur-Toriello Syndrome	Posteriorly rotated ears, Intestinal malrotation, Short neck, Dysplastic corpus callosum, Bulbous...	ORPHA:2328
Atelosteogenesis Type I	Micrognathia, Narrow chest, Absent or minimally ossified vertebral bodies, Rhizomelia, Hypertelor...	ORPHA:1190
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Intestinal malrotation, Bifid nasal tip, Short...	ORPHA:2712
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Short stature, Cryptorchidism, Hydrocephalus, Brachycephaly, Abnormal shape of t...	OMIM:218350
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Frontal bossing, Posteriorly rotated ears, Micrognathia, Congenital sensor...	OMIM:617306
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:1354
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress...	ORPHA:1529
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Maternal diabetes, Abnormality of the middle ear ossicles, Preax...	ORPHA:2549
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Short neck, Microcephaly, Wide nasal bridge, Cleft ...	ORPHA:251038
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Short neck, Micrognathia, Esophageal atresia, Hydrocephalus, Hypertelorism, A...	OMIM:614083
Tetrasomy 5P	Pericallosal lipoma, Redundant neck skin, Anteverted nares, Posteriorly rotated ears, Short hallu...	ORPHA:3309
Mucopolysaccharidosis Type 4	Bowing of the long bones, Anteverted nares, Abnormal dental enamel morphology, Hyperlordosis, Sho...	ORPHA:582
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma	OMIM:251505
Isotretinoin Syndrome	Sacral dimple, Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Biparietal narrowing...	ORPHA:2305
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Cortical dysplasia, Tracheoesophageal fistula, Cleft palate, D...	ORPHA:261272
Deafness, Conductive, With Malformed External Ear	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co...	OMIM:221300
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteosclerosis, Osteopathia s...	OMIM:300373
Teebi-Shaltout Syndrome	Syndactyly, Turricephaly, Rocker bottom foot, Broad nasal tip, Pectus excavatum, Underdeveloped n...	OMIM:272950
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydac...	OMIM:617895
Isolated Exencephaly	Holoprosencephaly, Hypoplasia of the frontal bone	ORPHA:563612
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B...	ORPHA:56304
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Short neck, Micrognathia, Depressed nasal ridge...	OMIM:608022
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Posteriorly rotated ears, Choanal atresia, Aplasia/Hypoplasia of the tongue, Missing ribs, Arachn...	ORPHA:2759
Muenke Syndrome	Short palm, Tarsal synostosis, Hypertelorism, High, narrow palate, Sensorineural hearing impairme...	ORPHA:53271
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Branchial cyst, Microcephaly, Tapered finger, Cryptorch...	ORPHA:435938
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Megalencephaly, Abnormally large globe, Car...	OMIM:269300
1Q44 Microdeletion Syndrome	Frontal bossing, Optic disc hypoplasia, Intestinal malrotation, Microcephaly, Micrognathia, Hyper...	ORPHA:238769
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type	Bulbous nose, Thick nasal alae, Triangular face, Prominent nose	ORPHA:293707
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism...	OMIM:615849
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S...	OMIM:213980
Retinal Dystrophy With Leukodystrophy	Prominent ear helix, Cleft palate, Progressive microcephaly, Hypotelorism	OMIM:618863
Sclerosteosis 1	Mandibular prognathia, Frontal bossing, Cortically dense long tubular bones, Syndactyly, Depresse...	OMIM:269500
Hermansky-Pudlak Syndrome 10	Microcephaly, Retrognathia, Cerebral atrophy, Hypotelorism, Low-set ears, Macrotia	OMIM:617050
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Wide nose, Camptodactyly of finger, Underdeveloped nasal alae, Short neck, Mic...	ORPHA:284160
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Posteriorly rotated ears, Choanal atresia, Optic nerve hypoplasia, Broad proxima...	OMIM:607597
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Periventricular cysts, Deeply set eye, Clinodactyly of the 5th finger, ...	ORPHA:544488
Congenital Disorder Of Deglycosylation 2	Sacral dimple, Cerebellar vermis hypoplasia, Sandal gap, Hamartoma of tongue, Micrognathia, Hyper...	OMIM:619775
Mulibrey Nanism	Frontal bossing, Wide nose, Short stature, Depressed nasal bridge, Absent frontal sinuses, Hypopl...	OMIM:253250
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Clinodactyly, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplic...	OMIM:268310
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Underdeveloped nasal alae, Short neck, Micrognathia, Sensorineural ...	OMIM:614230
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m...	OMIM:608940
Czeizel-Losonci Syndrome	Micrognathia, High palate, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly rotat...	ORPHA:2437
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ...	OMIM:253010
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Micrognathia, Bowing of the legs, Depressed nasal ridge, Pectus carinatum...	OMIM:271665
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Micromelia, Microcephaly, Hypertelorism, Cryptorchidism, Abnor...	ORPHA:2772
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the...	OMIM:602588
Silver-Russell Syndrome Due To 11P15 Microduplication	Triangular face, Short stature, Postnatal growth retardation, Severe intrauterine growth retardat...	ORPHA:231144
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Prominent nasal bridge, Aggressive behavior, Hypoplasia of the maxilla, Cryptorchi...	ORPHA:85279
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Ectopic posterior pituitary, Congenital hip dislocation, Micr...	ORPHA:508488
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly	ORPHA:3004
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Microcephaly, Underdevelop...	OMIM:617883
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Micromelia, Anisospo...	OMIM:224410
Trisomy 20P	Short neck, Micrognathia, Brachycephaly, Abnormal form of the vertebral bodies, Protruding ear, V...	ORPHA:261318
Distal Duplication 18Q	Anteverted nares, Choanal atresia, Prominent nasal bridge, Micrognathia, Carious teeth, Cryptorch...	ORPHA:1716
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Hypertelorism, Dental ...	OMIM:157980
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Microcephaly, Clinodactyly of the...	OMIM:614225
Sweeney-Cox Syndrome	Flat occiput, Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Brachycephaly, High palat...	OMIM:617746
Congenital Toxoplasmosis	Cerebral calcification, Microcephaly, Hydrocephalus, Microphthalmia, Hearing impairment	ORPHA:858
Galloway-Mowat Syndrome 3	Frontal bossing, Arachnodactyly, Microcephaly, Pectus excavatum, Hiatus hernia, Micrognathia, Hyp...	OMIM:617729
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Short stature, Anteverted nares, Persistence of primary teeth, Micrognathia, Aggre...	OMIM:618342
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Prominent nasal bridge, Hypertelorism, Bilateral cryptorchidism, Sensorineur...	OMIM:618652
Lissencephaly 8	Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypopl...	OMIM:617255
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Acrofrontofacionasal Dysostosis 2	Thickened nuchal skin fold, Syndactyly, Wide nose, Sacral dimple, Posteriorly rotated ears, Broad...	OMIM:239710
Congenital Myopathy 19	Micrognathia, Cryptorchidism, Depressed nasal ridge, Dysphagia, Triangular face	OMIM:618578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly	OMIM:614830
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Hypertelor...	ORPHA:1135
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Potocki-Lupski Syndrome	Mandibular prognathia, Hyperactivity, Short stature, Micrognathia, Oral-pharyngeal dysphagia, Den...	OMIM:610883
Holoprosencephaly 4	Absent nasal septal cartilage, Semilobar holoprosencephaly	OMIM:142946
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Hearing impairment, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly	OMIM:610023
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Microcephaly, Mi...	OMIM:616038
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Intestin...	OMIM:113650
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Shallow orbits, Short phalanx...	OMIM:258480
Frontonasal Dysplasia 3	Posteriorly rotated ears, Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Brachyceph...	OMIM:613456
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Bulbous nose, Subcortical band heterotopia, Pachygyria, Midface retrusion	OMIM:618737
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Bilateral cleft lip and palate, Promin...	OMIM:619339
Frontometaphyseal Dysplasia 1	Carpal synostosis, Absent frontal sinuses, Increased density of long bone diaphyses, High palate,...	OMIM:305620
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Microcephaly, Pectus excavatum, Esophageal atresia, Submucous cleft h...	OMIM:619227
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Short neck, Micrognathia, Abnormal form o...	ORPHA:233
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Craniosynostosis, Hypertelorism, Abnor...	ORPHA:1553
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Narrow palate, Low poste...	ORPHA:1323
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Cerebral calcification, Bowing of the long bones, Intestinal malro...	ORPHA:3035
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Abnormally large globe, Hypoplasia of the pons, Micrognathia, Simplified gyral pattern, Hypoplasi...	OMIM:300749
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Meningeal calcification, Clinodactyly of the 5th finger, Sm...	OMIM:154780
Skin Creases, Congenital Symmetric Circumferential, 2	Uplifted earlobe, Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Depressed...	OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Coloboma, Hypoplasia of the brainstem, Pachygyria, Agenesi...	OMIM:236670
Focal Dermal Hypoplasia	Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, Finger syndactyly, Abnormal dental...	ORPHA:2092
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Hypertelorism, Depressed nasal ridge...	OMIM:312150
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Abnormally large globe, Anteriorly placed anus, Hypertelorism, Tapered fin...	OMIM:239300
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec...	OMIM:619503
Branchiootic Syndrome	Branchial fistula, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, ...	ORPHA:52429
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ...	OMIM:200600
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal...	OMIM:268400
Spondyloepiphyseal Dysplasia Congenita	Back pain, Short neck, Micrognathia, Glossoptosis, Increased head circumference, Barrel-shaped ch...	ORPHA:94068
Saethre-Chotzen Syndrome	Long nose, Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of...	OMIM:101400
Osteogenesis Imperfecta, Type X	Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Shallow orbits, Broad ...	OMIM:613848
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L...	OMIM:253200
Microphthalmia, Syndromic 1	Anophthalmia, High, narrow palate, Rectal prolapse, High palate, Narrow chest, Chorioretinal colo...	OMIM:309800
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submucous cleft hard palate...	ORPHA:2250
Chopra-Amiel-Gordon Syndrome	Triangular face, Short stature, Postnatal growth retardation, Flared nostrils, Brachycephaly, Att...	OMIM:619504
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Flat occiput, Depressed nasal bridge, Anteverted nares, Broad nasal tip, M...	OMIM:152950
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Congenital muscular torticollis, Thickened nuchal skin f...	ORPHA:2916
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum...	OMIM:303600
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Decr...	OMIM:259440
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, Pectus carinatum, High palate, Anteverted nares, Depressed na...	ORPHA:536467
Joubert Syndrome 2	Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Depressed nasal bridge, Hypertelor...	OMIM:608091
Atelis Syndrome 2	Frontal bossing, Sacral dimple, Remnants of the hyaloid vascular system, Prominent nose, Microcep...	OMIM:620185
Autosomal Recessive Multiple Pterygium Syndrome	Micrognathia, Symphalangism affecting the phalanges of the hand, Webbed neck, Vertebral segmentat...	ORPHA:2990
Rhizomelic Chondrodysplasia Punctata, Type 1	Frontal bossing, Severe short stature, Rhizomelia, Depressed nasal bridge, Micrognathia, Malar fl...	OMIM:215100
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Thin ribs, Lissencephaly, Micro...	OMIM:614833
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Agnathia-Otocephaly Complex	Holoprosencephaly	OMIM:202650
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short nec...	OMIM:613686
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Posteriorly rotated ears, Kyphoscoliosis, Microcephaly, Bulbous nose, Brac...	OMIM:618644
Frank-Ter Haar Syndrome	Flat occiput, Redundant neck skin, Anterior concavity of thoracic vertebrae, Abnormally large glo...	OMIM:249420
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Frontal bossing, Micrognathia, Hydrocephalus, Dentinogenesis imperfe...	OMIM:112240
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, P...	ORPHA:2769
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula...	ORPHA:95699
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism	OMIM:610125
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Hypertelorism, Kyphosis, Sensorineural hearing im...	ORPHA:314588
Genitopalatocardiac Syndrome	Microcephaly, Micrognathia, Kyphosis, Hydrocephalus, Hypertelorism, Cryptorchidism, Wide nasal br...	ORPHA:2075
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Anteverted nares, Supernumerary nipple, Micrognathia, Pectus excavatum, Submuco...	OMIM:619122
Intellectual Developmental Disorder, Autosomal Recessive 45	Anteverted nares, Bulbous nose, Wide nasal bridge, Retrognathia, Flat face	OMIM:615979
Fryns Syndrome	Ectopic pancreatic tissue, Proximal placement of thumb, Short neck, Prominent fingertip pads, Bro...	OMIM:229850
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short stature, Anteverted nares, Depressed nasal bridge, Choanal atresia, Bilateral cryptorchidis...	OMIM:619859
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Absent testis, Postaxial polydactyly	OMIM:613094
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Hypertelorism, Conductive hearing impairment, Sensorineural heari...	ORPHA:261197
Campomelic Dysplasia	Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,...	ORPHA:140
Short-Rib Thoracic Dysplasia 12	Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencep...	OMIM:269860
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Mixed hearing impairment, Short neck, Sensorineural hearing impa...	OMIM:118100
Seckel Syndrome 2	Microcephaly, Prominent nose, Micrognathia, Cerebellar hypoplasia, Clinodactyly of the 5th finger...	OMIM:606744
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Frontal bossing, Sacral dimple, Turricephaly, Aganglionic megacolon, Micro...	OMIM:613603
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth hormone stimulat...	ORPHA:95494
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Depressed nasal bridge, Hypertelorism, Brachycephaly, Coloboma, Low...	OMIM:612379
Opitz-Kaveggia Syndrome	Prominent nose, Short neck, Micrognathia, Partial agenesis of the corpus callosum, Anteriorly pla...	OMIM:305450
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Hypertelorism, Depressed nasal ridge...	OMIM:253290
Microphthalmia, Syndromic 8	Mandibular prognathia, Microcephaly, Cryptorchidism, Cleft palate, Split foot, Microphthalmia	OMIM:601349
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, High palate, Short palm, Antegonial no...	OMIM:170390
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Depressed nasal bridge, Focal polymicrogyria, Cryptorchidism, Partial agen...	OMIM:619103
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Nasal congestion, Recurrent sinusitis	OMIM:300991
Oculodentodigital Dysplasia	Basal ganglia calcification, High palate, Joint contracture of the 5th finger, Conductive hearing...	OMIM:164200
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Abno...	ORPHA:249
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Underdeveloped n...	ORPHA:306542
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Pectus carinatum, High pal...	ORPHA:958
Galloway-Mowat Syndrome 1	Flat occiput, Prominent nose, Micrognathia, Hypoplasia of the iris, Hypoplasia of the brainstem, ...	OMIM:251300
Norrie Disease	Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Diabetes mellitus, Remnants of the hyaloid v...	ORPHA:649
Wolf-Hirschhorn Syndrome	Micrognathia, Periventricular cysts, Abnormal form of the vertebral bodies, Conductive hearing im...	OMIM:194190
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Short stature, Prominent nose, Hydrocephalus, Scaphocephaly, Crania...	OMIM:614886
Kbg Syndrome	Short neck, Brachycephaly, Protruding ear, Thoracic kyphosis, Short palm, Clinodactyly of the 5th...	OMIM:148050
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Hydrocephal...	OMIM:611134
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, High, narrow palate, Hypoplasia of...	OMIM:600920
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Brachycephaly, Femoral bowing, Choanal stenosis, Narrow chest, Depressed nasal bridge, Arachnodac...	OMIM:207410
Achondrogenesis	Frontal bossing, Severe short stature, Anteverted nares, Micrognathia, Short nose, Flat face	ORPHA:932
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ...	OMIM:277170
Baller-Gerold Syndrome	Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, Choanal stenosis, High ...	OMIM:218600
Combined Oxidative Phosphorylation Deficiency 55	Depressed nasal bridge, Anteverted nares, Microcephaly, Genu varum, Hypotelorism, High palate, Th...	OMIM:619743
Cockayne Syndrome B	Mandibular prognathia, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand,...	OMIM:133540
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ...	OMIM:600002
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Protrusio acetabuli, Micrognathia, Kyphosis, Thin ribs, Tibial bowing, Slender l...	OMIM:259420
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Adenoiditis, Abnormal form of the vertebral bodies, Otitis media, T...	ORPHA:581
Lowry-Maclean Syndrome	Short nasal bridge, Choanal atresia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, D...	ORPHA:2409
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Posteriorly rotated ears, Proximal placement of thumb, Hypertelorism, Long nose, Clinodactyly of ...	OMIM:620113
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Frontal bossing, Hyperactivity, Prominent nasal bridge, Micrognathia, Hypopl...	OMIM:309520
Fanconi Anemia	Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t...	ORPHA:84
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate, Hypotelorism	OMIM:619053
Neu-Laxova Syndrome 1	Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Agenesis o...	OMIM:256520
Hydranencephaly	Dysgenesis of the thalamus, Stiff neck, Optic nerve hypoplasia, Thalamic edema, Hypotelorism, Inf...	ORPHA:2177
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Bip...	ORPHA:818
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment	OMIM:120433
Fanconi Anemia, Complementation Group R	Radial dysplasia, Microcephaly, Absent thumb, Hydrocephalus, Scoliosis, Microphthalmia, Anal atresia	OMIM:617244
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing, Tics, Triangular face	OMIM:619264
Schwartz-Jampel Syndrome	Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Low-set, posterio...	ORPHA:800
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia ...	ORPHA:280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of...	OMIM:615181
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Duplication of thumb phalan...	OMIM:601707
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Brachycep...	OMIM:612289
Intellectual Developmental Disorder With Neuropsychiatric Features	Obsessive-compulsive trait, Depressed nasal bridge, Triangular face	OMIM:617532
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Micrognathia, Hearing abno...	ORPHA:1352
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Cryptorchidism, Intrauterine growth retardation, Short nose, Flat face	OMIM:616910
Orofaciodigital Syndrome Xv	Anteverted nares, Wide nasal bridge, Agenesis of corpus callosum, Flat face	OMIM:617127
Autosomal Recessive Robinow Syndrome	Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Chronic otitis media, ...	ORPHA:1507
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Supernumerary to...	ORPHA:627
Distal Duplication 17Q	Micrognathia, Pectus carinatum, Protruding ear, High palate, Low-set, posteriorly rotated ears, D...	ORPHA:3379
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Hy...	ORPHA:364577
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Short neck, Micrognathia, Deeply set eye, High palate, Scapular winging, Wide...	OMIM:620369
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Microcephaly, Pectus excavatum, Tapered finger, Pectus carinatum, Macroce...	ORPHA:65286
Isolated Sedoheptulokinase Deficiency	Steatorrhea, Hypotelorism, Macrocephaly, Subcortical cerebral atrophy, Hip dysplasia, Shallow orb...	ORPHA:440713
17P11.2 Microduplication Syndrome	Short stature, Oral-pharyngeal dysphagia, Micrognathia, Attention deficit hyperactivity disorder,...	ORPHA:1713
Blepharophimosis-Impaired Intellectual Development Syndrome	Frontal bossing, Wide nose, Anteverted nares, Narrow nasal ridge, Underdeveloped nasal alae, Cryp...	OMIM:619293
Trisomy 8Q	Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Micrognathia, Hypertelori...	ORPHA:1752
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo...	ORPHA:93351
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli...	OMIM:616229
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Wide nose, Arachnodactyly, Hypertelorism, Pectus excavatum, Thin ribs, Abnormal columella morphol...	ORPHA:2463
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Postnatal growth retardation, Short stature, Triangular face	OMIM:619489
Ciliary Dyskinesia, Primary, 34	Male infertility, Chronic rhinitis, Recurrent sinusitis, Immotile sperm	OMIM:617091
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Retrognathia, Hypoplasia...	OMIM:234050
Robinow Syndrome	Micrognathia, Hemivertebrae, Fused thoracic vertebrae, Syndactyly, Anteverted nares, Depressed na...	ORPHA:97360
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Hyperte...	ORPHA:90646
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Short neck, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:96334
Mend Syndrome	Redundant neck skin, Micrognathia, High palate, Dandy-Walker malformation, Microretrognathia, Bro...	OMIM:300960
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Coloboma, Vertebral segmentation defect, Triphalangeal thumb, Chorioretina...	ORPHA:959
Orofaciodigital Syndrome Iii	Hypertelorism, Pectus excavatum, Kyphosis, Bulbous nose, Supernumerary tooth, Postaxial hand poly...	OMIM:258850
Silver-Russell Syndrome 2	Frontal bossing, Short stature, Micrognathia, Intrauterine growth retardation, Triangular face	OMIM:618905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Spinal rigidity, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus...	OMIM:613150
22Q11.2 Deletion Syndrome	Short neck, Micrognathia, Hypoplasia of the thymus, Conductive hearing impairment, Chronic otitis...	ORPHA:567
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasi...	ORPHA:2167
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Rocker bottom foot, ...	OMIM:606851
Craniofrontonasal Syndrome	Short neck, Brachycephaly, Sprengel anomaly, Clinodactyly of the 5th finger, Agenesis of corpus c...	OMIM:304110
Alazami Syndrome	Wide nose, Triangular face, Abnormal eating behavior, Postnatal growth retardation, Malar flatten...	ORPHA:319671
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Abnormal rib morphology, Slender long bone, A...	ORPHA:1506
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo...	OMIM:154400
Ruijs-Aalfs Syndrome	Frontal bossing, Short stature, Prominent nasal bridge, Micrognathia, Bulbous nose, Hypogonadism,...	OMIM:616200
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Frontal bossing, Aggressive behavior, Brachycephaly, Flat face	OMIM:615828
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Glossoptosis, Rib exostoses, Clinodactyly of th...	ORPHA:2108
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ...	ORPHA:1512
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormal t...	ORPHA:1318
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge	OMIM:618302
Hyperlysinemia	Craniosynostosis, Microcephaly, Depressed nasal ridge, Hypotelorism, High palate, Hypoplasia of t...	ORPHA:2203
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Osteogenesis Imperfecta	Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo...	ORPHA:666
Stuve-Wiedemann Syndrome 1	Short neck, Micrognathia, Femoral bowing, Tibial bowing, Deeply set eye, Smooth tongue, Short tib...	OMIM:601559
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:2470
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia...	ORPHA:2655
Nanophthalmos	Microphthalmia	ORPHA:35612
Cerebrocostomandibular Syndrome	Cerebral calcification, Hydranencephaly, Spina bifida, Microcephaly, Micrognathia, Kyphosis, Myel...	ORPHA:1393
Short Stature, Brussels Type	Microretrognathia, Growth delay, Short stature, Triangular face	ORPHA:2867
Mulchandani-Bhoj-Conlin Syndrome	Severe short stature, Dolichocephaly, Intrauterine growth retardation, Retrognathia, Triangular face	OMIM:617352
Scarf Syndrome	Barrel-shaped chest, Thickened nuchal skin fold, Posteriorly rotated ears, Prominent nasal bridge...	OMIM:312830
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa...	OMIM:186500
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, Coloboma, High palate, Clinod...	OMIM:309500
Warburg Micro Syndrome 4	Decreased testicular size, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Perisylvian ...	OMIM:615663
Pseudoaminopterin Syndrome	Micrognathia, High palate, Synostosis of carpal bones, Low-set, posteriorly rotated ears, Sagitta...	ORPHA:221120
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Mandibular prognathia, Thickened ribs, Short neck, Brachycephaly, Pe...	ORPHA:309282
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Antever...	OMIM:227330
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Aggressive be...	OMIM:610253
Linear Nevus Sebaceus Syndrome	Frontal bossing, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus cal...	ORPHA:2612
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Silver-Russell Syndrome 3	Frontal bossing, Short stature, Unilateral cryptorchidism, Postnatal growth retardation, Retrogna...	OMIM:616489
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Hypertelorism, Abnormal thorax morphology, Metaphyseal widening, ...	ORPHA:73230
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly, Finger clinodactyly, Shallow orbits, Depressed nasal bridge, Hypertelorism, Tapere...	OMIM:601353
Bent Bone Dysplasia Syndrome 2	Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat...	OMIM:620076
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Microphthalmia, Global brain atrophy, Microcephaly	OMIM:308350
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Protruding ear, Webbed neck, Deeply set ey...	OMIM:613458
Jackson-Weiss Syndrome	Mandibular prognathia, Frontal bossing, Turricephaly, Convex nasal ridge, Hypoplasia of the maxil...	ORPHA:1540
Blomstrand Lethal Chondrodysplasia	Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Anteverted nares, Depre...	ORPHA:50945
Roberts-Sc Phocomelia Syndrome	Short neck, Micrognathia, Brachycephaly, Tetraphocomelia, Coloboma, High palate, Shallow orbits, ...	OMIM:268300
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Frontal bossing, Short stature, Anteverted nares, Prominent nasal bridge, Micrognathia, Enlarged ...	ORPHA:371364
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Frontal bossing, Anteverted nares, Prominent nasal bridge, Prominent nose, Bulbous nose, Brachyce...	OMIM:616801
Pycnodysostosis	Frontal bossing, Brachydactyly, Aplastic clavicle, Prominent nose, Micrognathia, Absent frontal s...	OMIM:265800
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Microcephaly	OMIM:278780
Au-Kline Syndrome	Vertebral segmentation defect, High palate, Shallow orbits, Clinodactyly of the 5th finger, Bifid...	OMIM:616580
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Hydrocephalus, W...	OMIM:620157
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Mixed hearing impairment, Short metacarpal, Hypertelorism, Pectus excavatu...	OMIM:201180
Peroxisome Biogenesis Disorder 13A (Zellweger)	Flat occiput, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Gray matter heterotopia, D...	OMIM:614887
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Frontal bossing, Short stature, Delayed puberty, Trigonocephaly, Flat face	ORPHA:2994
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand ...	ORPHA:1120
Marshall Syndrome	Frontal bossing, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasi...	ORPHA:560
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irregular vertebr...	OMIM:618395
Congenital Varicella Syndrome	Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly	ORPHA:291
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Thin clavicles, ...	ORPHA:93324
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Depressed nasal bridge, Thoracolumbar scolio...	OMIM:618019
Hurler Syndrome	Abnormal clavicle morphology, Frontal bossing, Anteverted nares, Depressed nasal bridge, Camptoda...	ORPHA:93473
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Anteriorly placed anus, Ch...	ORPHA:798
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Abnormal rib morphology, Cleft palate, Abnormality of the vertebral column, Conduct...	OMIM:601076
Meier-Gorlin Syndrome 1	Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae...	OMIM:224690
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Sacral dimple, Prominent nasal bridge, Broad nasal tip, Mi...	OMIM:223370
Chromosome 10Q26 Deletion Syndrome	Frontal bossing, Hyperactivity, Short stature, Convex nasal ridge, Craniosynostosis, Micrognathia...	OMIM:609625
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Cerebellar vermis hypo...	OMIM:619841
Scarf Syndrome	Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of...	ORPHA:3134
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Wide nasal bridge, Low-set ...	OMIM:601186
Silver-Russell Syndrome Due To A Point Mutation	Frontal bossing, Dysmenorrhea, Micrognathia, Postnatal growth retardation, Cryptorchidism, Attent...	ORPHA:397590
Hajdu-Cheney Syndrome	Short neck, Micrognathia, Absent frontal sinuses, High palate, Conductive hearing impairment, Iri...	OMIM:102500
Kagami-Ogata Syndrome	Frontal bossing, Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Microg...	OMIM:608149
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr...	ORPHA:3236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:253800
Becker Nevus Syndrome	Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Wide nasal bridge, Malar flatte...	ORPHA:261295
Pfeiffer Syndrome	Mandibular prognathia, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Hypoplasia of t...	OMIM:101600
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Short stature, Convex nasal ridge	OMIM:156510
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Hypertelorism, ...	ORPHA:466950
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Brachycephaly, Plagiocepha...	OMIM:616789
Joubert Syndrome 22	Agenesis of cerebellar vermis, Postaxial hand polydactyly, Temporal cortical atrophy, 2-3 toe syn...	OMIM:615665
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Brachycephaly, Anteri...	OMIM:211380
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Wide nose, Intestinal polyposis, Microcephaly...	ORPHA:1052
Microcephalic Primordial Dwarfism, Toriello Type	Microcephaly, Abnormal rib morphology, Abnormal epiphysis morphology, Enamel hypoplasia, Brachyda...	ORPHA:2643
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:304120
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Abnormal rib morphology, Low posterior hairline, Vertebral segmentation defect, Heari...	ORPHA:2578
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Wide nose, Rhizomelia, Depressed nasal ridge, Short nose, Flat face	ORPHA:2831
Cog1-Cdg	Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Short neck, Micrognathia, Vertebr...	ORPHA:263508
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia	ORPHA:3000
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Torticollis, Depressed nasal bridge, Kyphosis, Cranial asymmetry...	OMIM:609128
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma, Cleft palate	OMIM:600251
Distal 17P13.1 Microdeletion Syndrome	Flat occiput, Unilateral polymicrogyria, Prominent nasal bridge, Hypoplasia of the zygomatic bone...	ORPHA:319171
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short stature, Micrognathia, Wide nasal bridge, Coronal craniosynostosis, Flat face, Short nose	OMIM:614078
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Recurrent upper re...	ORPHA:583
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat...	ORPHA:2911
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Hydrocephalus, Porencephalic cyst, Esophageal va...	ORPHA:974
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Short neck, Micrognathia, High, narrow palate, Micromelia, Brachycep...	OMIM:122470
Branchioskeletogenital Syndrome	Attached earlobe, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb perome...	ORPHA:1299
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Hypertelor...	OMIM:603457
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea	OMIM:264270
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Wide nasal bridge, Brachycephaly, Short nose, Agenesis of corpus callosum	OMIM:218000
20Q11.2 Microduplication Syndrome	Anteverted nares, Depressed nasal bridge, Cryptorchidism, Brachycephaly, Wide nasal bridge, Growt...	ORPHA:363659
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal pinna morphology, Short neck, Broad nasal tip, Thickened cortex of long bones, Abnormal ...	ORPHA:488434
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Kyp...	OMIM:614557
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly, Slender long bone, Decrea...	OMIM:618265
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ...	OMIM:251270
Robinow-Sorauf Syndrome	Craniosynostosis, Long nose, Plagiocephaly, Pansynostosis, Malar flattening, Flat face, Narrow nose	OMIM:180750
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Sensorineural hearing impairment, Bilateral cleft lip and palate, Chorioretinal coloboma, Microph...	ORPHA:1473
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella	OMIM:620197
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Ciliary Dyskinesia, Primary, 9	Male infertility, Chronic sinusitis, Chronic rhinitis, Recurrent sinusitis	OMIM:612444
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Frontal bossing, Hyperparathyroidism, Short femur, Anteverted nares,...	OMIM:618188
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera...	ORPHA:77299
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Precocious puberty, 2-3 toe syndactyly, Coloboma, Macrocephaly, Microph...	OMIM:615877
Gracile Bone Dysplasia	Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Microphthalmia, Ankylog...	OMIM:602361
Williams-Beuren Syndrome	Rectal prolapse, Hypotelorism, Early onset of sexual maturation, Clinodactyly of the 5th finger, ...	OMIM:194050
Sotos Syndrome	Mandibular prognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Aggressive beha...	OMIM:117550
Tarp Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, High palate, Anteverted nares, Hypertel...	OMIM:311900
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split...	OMIM:200980
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Frontal bossing, Abnormal dental enamel morphology, Aplastic clavic...	ORPHA:85199
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia, Microcephaly	OMIM:614082
Osteoporosis-Pseudoglioma Syndrome	Frontal bossing, Crumpled long bones, Isosexual precocious puberty, Metaphyseal widening, Abnorma...	ORPHA:2788
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short stature	ORPHA:93945
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Brachycephaly, ...	OMIM:618223
16Q24.3 Microdeletion Syndrome	Frontal bossing, Anteverted nares, Micrognathia, Periventricular heterotopia, Cryptorchidism, Col...	ORPHA:261250
Fetal Akinesia Deformation Sequence 1	Short neck, Micrognathia, High, narrow palate, High palate, Cavum septum pellucidum, Absent septu...	OMIM:208150
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow chest, Narro...	OMIM:250220
Multiple Pterygium Syndrome, Escobar Variant	Short neck, Micrognathia, High palate, Camptodactyly of toe, Conductive hearing impairment, Dislo...	OMIM:265000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Microphthalmia	OMIM:601794
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Hypotelorism, High pala...	OMIM:300661
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Webbed neck, ...	ORPHA:373
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp...	OMIM:615948
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Microphthalmia, Broad thumb,...	OMIM:614526
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overlapping fingers, Stiff neck, Torticollis, Short neck, Micrognathia, Narro...	OMIM:617022
Turnpenny-Fry Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Pectus carinatum, Prominent i...	OMIM:618371
Bartsocas-Papas Syndrome 1	Short neck, Hypoplasia of the maxilla, Micrognathia, Bilateral cryptorchidism, Hypoplastic iliac ...	OMIM:263650
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Nanophthalmos 4	Microphthalmia	OMIM:615972
Arachnoid Cyst	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Ciliary Dyskinesia, Primary, 18	Male infertility, Rhinitis, Recurrent sinusitis, Immotile sperm	OMIM:614874
Three M Syndrome 3	Frontal bossing, Triangular face, Short stature, Anteverted nares, Growth delay, Dolichocephaly, ...	OMIM:614205
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Micrognathia, Aplasia of the distal phalanx of the 5th finger, High palate, Clinodactyly of the 5...	OMIM:608670
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Micromelia, Short neck, Prominent nose, Long nose, Micro...	ORPHA:2636
8Q22.1 Microdeletion Syndrome	Craniosynostosis, Hypoplasia of the maxilla, Cryptorchidism, Depressed nasal ridge, Wide nasal br...	ORPHA:178303
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short stature, Anteverted nares, Hypoplasia of the maxilla, Cryptorchi...	ORPHA:915
Wiedemann-Steiner Syndrome	Hyperactivity, Wide nose, Short stature, Micrognathia, Postnatal growth retardation, Cryptorchidi...	OMIM:605130
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Microcephaly, External ear malformation, Micrognathia, Cryptor...	ORPHA:2505
47,Xyy Syndrome	Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azo...	ORPHA:8
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Hypertelorism, Iris coloboma, Brachycephaly, Bifid uvula, Midline defe...	OMIM:229400
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G...	OMIM:250420
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ribs, Hallux valgus, Short neck, Abn...	ORPHA:75857
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Microcephaly, Pectus excavatum, Bifid nasal tip, Unilateral microphthalmos, Bilateral cleft lip a...	OMIM:618874
Stormorken Syndrome	Hypotelorism, Deeply set eye, Epistaxis, Prominent nose	OMIM:185070
Waardenburg Syndrome, Type 1	Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Hypertelorism, Congenital sensori...	OMIM:193500
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Sacral dimple, Flat occiput, Posteriorly rotated ears, Abnormal...	ORPHA:2211
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Micrognathia, Hypertelorism, Absent radius...	OMIM:115470
Zttk Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Deeply set eye, High palate, Bifid uvul...	OMIM:617140
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Microsphero...	OMIM:277600
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Ileal atresia, Micrognathia, Protruding ear, Holoprosencephaly, Agenes...	OMIM:618820
Paganini-Miozzo Syndrome	Mandibular prognathia, Malar flattening, Lateral ventricle dilatation, Triangular face	OMIM:301025
Tarp Syndrome	Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Finger syndactyly, ...	ORPHA:2886
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormality of the thyroid gland, Abnormal rib morphology, Hemivertebrae, Abnormal fo...	ORPHA:2234
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, High palate, Agenesis of corpus callos...	ORPHA:96176
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Nabais Sa-De Vries Syndrome, Type 2	Frontal bossing, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Prominent nose...	OMIM:618829
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Porencephalic cyst, Anteriorly placed anus, Glossoptosi...	OMIM:117650
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Anteverted nares, Carious teeth, Polymicrogyria, Flat face, Malar flattening, Sh...	OMIM:219200
Chromosome 5Q12 Deletion Syndrome	Frontal bossing, Prominent nose, Postnatal growth retardation, Micrognathia, Flat face, Low hangi...	OMIM:615668
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Frontal bossing, Short stature, Abnormal cortical gyration, Trigonocephaly, Ma...	OMIM:177980
Achondrogenesis, Type Ib	Malar flattening, Stillbirth, Neonatal short-limb short stature, Flat face	OMIM:600972
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Short stature, Micrognathia, Wide nasal bridge, Prominent nasolabial fold,...	OMIM:601680
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Clinodactyly, Brachycephaly, High...	OMIM:614188
Congenital Rubella Syndrome	Microcephaly, Sensorineural hearing impairment, Aplasia/Hypoplasia of the iris, Type I diabetes m...	ORPHA:290
Neuroocular Syndrome	Hyperextensibility of the finger joints, Lens coloboma, Deeply set eye, Clinodactyly of the 5th f...	OMIM:619539
Robinow Syndrome, Autosomal Dominant 1	Short neck, Micrognathia, Clinodactyly, High palate, Short palm, Duplication of the distal phalan...	OMIM:180700
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert...	ORPHA:887
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Shallow orb...	OMIM:608328
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
Ciliary Dyskinesia, Primary, 45	Male infertility, Chronic rhinitis	OMIM:618801
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,...	OMIM:211350
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cerebral calcification, Intestinal malrotation, Microcephaly, Pectus excavatum, Esophageal varix,...	OMIM:613658
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Hamartoma of tongue, Hypertelorism, Pectus excavatum, Bulbous nose,...	ORPHA:2752
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate	OMIM:614402
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral clavicle hook, Brachycephaly, Pectus carinatum, Thoracic dy...	OMIM:263520
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Flat occiput, Micrognathia, Protruding ear, Deeply se...	ORPHA:534
Pyknoachondrogenesis	Craniofacial hyperostosis, Hypoplastic ischia, Short iliac bones, Micromelia, Short thorax, Depre...	ORPHA:3003
Fanconi Anemia, Complementation Group F	Sacral dimple, Decreased response to growth hormone stimulation test, Microcephaly, Absent thumb,...	OMIM:603467
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal ridge, Brachycephaly, Deeply set eye, High palate, Thickened helices, Conductive ...	OMIM:607872
7Q31 Microdeletion Syndrome	Hyperactivity, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Postnatal growth reta...	ORPHA:251061
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin...	ORPHA:2554
Codas Syndrome	Delayed eruption of teeth, Anteverted nares, Short stature, Abnormal dental enamel morphology, De...	ORPHA:1458
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret...	OMIM:614753
Keipert Syndrome	Hypoplasia of the maxilla, Depressed nasal bridge, Short stature, Prominent nasal bridge	ORPHA:2662
Cranioectodermal Dysplasia 2	Short neck, Micrognathia, High palate, Narrow chest, Simple ear, Syndactyly, Cloverleaf skull, De...	OMIM:613610
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Screwdriver-shaped incisors, Mulberry molar, Broad finger...	OMIM:302350
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo...	OMIM:269150
Spondylometaphyseal Dysplasia, Sedaghatian Type	Turricephaly, Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal c...	ORPHA:93317
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Distal Xq28 Microduplication Syndrome	Short stature, Epistaxis, Impulsivity, Aggressive behavior, Hypoplasia of the maxilla, Broad nasa...	ORPHA:293939
Al Kaissi Syndrome	Short stature, Depressed nasal bridge, Broad nasal tip, Postnatal growth retardation, Brachycepha...	OMIM:617694
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Malar f...	ORPHA:2412
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Microtia, Recurrent otitis media...	ORPHA:2728
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Cleft...	OMIM:611561
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Xq12-Q13.3 Duplication Syndrome	Short stature, Depressed nasal bridge, Cryptorchidism, Bulimia, Recurrent upper respiratory tract...	ORPHA:314389
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni...	ORPHA:464
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Chronic sinusitis, Immotile sperm	OMIM:613807
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Microphakia, Low-set...	OMIM:612109
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Short stature, Prominent nose, Brachycephaly, Wide nasal bridge, Biparietal narr...	ORPHA:1292
Global Developmental Delay With Speech And Behavioral Abnormalities	Cryptorchidism, Triangular face, Attention deficit hyperactivity disorder, Micrognathia	OMIM:619243
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Silver-Russell Syndrome 1	Frontal bossing, Micrognathia, Testicular seminoma, Intrauterine growth retardation, Triangular face	OMIM:180860
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Short neck, Micrognathia, High, narrow palate, Hypoplasia of ...	ORPHA:3015
Phocomelia, Schinzel Type	Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia morphology, Protruding ...	ORPHA:2879
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Microcephaly, Microg...	OMIM:620005
Hydrolethalus Syndrome 1	Broad neck, Abnormal pinna morphology, Absent septum pellucidum, Abnormal cortical gyration, Micr...	OMIM:236680
Halperin-Birk Syndrome	Intrauterine growth retardation, Semilobar holoprosencephaly	OMIM:618651
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Depressed nasal bridge, Proportionate short stature, Micrognathia, Bil...	OMIM:613457
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Anteverted nares, Aggressive behavior, Hypoplasia of the maxilla, Bulbous nose, Agenesis of corpu...	ORPHA:481152
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry...	ORPHA:261529
Pfeiffer Syndrome	Mandibular prognathia, Turricephaly, Short stature, Wide nasal bridge, Hypoplasia of the zygomati...	ORPHA:710
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Flat occiput, Anteverted nares, Cryptorchidism, Wide nasal bridge, Growth dela...	OMIM:614052
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Thrombocytopenia 6	Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism	OMIM:616937
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Triangular face, Micrognathia	OMIM:166300
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Preco...	ORPHA:2588
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Malar flattenin...	OMIM:242860
Carpenter Syndrome 2	Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Brachycephaly, C...	OMIM:614976
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Convex nasal ridge, Carious teeth, Hypoplasia of t...	ORPHA:1110
Distal Duplication 5Q	Short stature, Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Cryptorchid...	ORPHA:96097
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Clinodactyly, Dental malocclusion, Wide n...	OMIM:618727
Craniotubular Dysplasia, Ikegawa Type	Short palm, Metaphyseal dysplasia, Anteverted nares, Hypertelorism, Increased intervertebral spac...	OMIM:619727
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity	ORPHA:397973
Mowat-Wilson Syndrome	Uplifted earlobe, Large basal ganglia, Pectus carinatum, Deeply set eye, Chorioretinal coloboma, ...	OMIM:235730
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of co...	OMIM:613091
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
Zellweger Syndrome	Death in infancy, Flat occiput, Short stature, Depressed nasal bridge, Micrognathia, Cryptorchidi...	ORPHA:912
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose, Fl...	OMIM:122880
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Micrognathia, Wide nasal bridge, Thin ribs, Femoral bowing, Biconcave v...	OMIM:617952
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Microcephaly, Wide nasal bridge, Protruding ear, Micro...	ORPHA:2526
Ciliary Dyskinesia, Primary, 19	Male infertility, Rhinitis, Nasal polyposis, Recurrent sinusitis	OMIM:614935
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Hypotelorism, Inflammation of the large intestine, Oral leukopl...	OMIM:620133
Coffin-Lowry Syndrome	Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Death in early adulthood, ...	ORPHA:192
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ...	OMIM:610915
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Restlessness, Hyperactivity, Short stature, Prominent nasal bridge, Microg...	OMIM:300534
Myoclonic-Astatic Epilepsy	Syndactyly, Anteverted nares, Microcephaly, Wide nasal bridge, Microphthalmia, Thick nasal alae	ORPHA:1942
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Vertebral hyperostosis, Abn...	ORPHA:89936
Faundes-Banka Syndrome	Frontal bossing, Premature thelarche, Underdeveloped nasal alae, Micrognathia, Hypertelorism, Bul...	OMIM:619376
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Aarskog-Scott Syndrome	Short stature, Anteverted nares, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cryptorchid...	OMIM:305400
Axenfeld-Rieger Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Growth delay, Midface retru...	ORPHA:782
Marbach-Rustad Progeroid Syndrome	Triangular face, Short stature, Convex nasal ridge, Delayed eruption of primary teeth, Micrognath...	OMIM:619322
Prune Belly Syndrome	Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Cryptorchidism, Abnormal ri...	ORPHA:2970
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge	OMIM:300676
Osteoglophonic Dysplasia	Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Cloverleaf skull, Rhizomelia, ...	OMIM:166250
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Torticollis, Posteriorly rotated ears, Spina bifida, Broad nasal tip, Hypertelor...	OMIM:619480
Deafness, X-Linked 7	Posteriorly rotated ears, Unilateral microphthalmos, Wide nasal bridge, Atresia of the external a...	OMIM:301018
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Kyphoscoliosis, Microcephaly, Supernumerary n...	OMIM:308300
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta	OMIM:601216
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Triangular face, Aggressive behavior, Plagiocephaly, Lateral ventricle dilatatio...	ORPHA:457279
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Pectus carinatum, Vertebral segmentation def...	OMIM:312870
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior, Long nose, Macroorchidism, Triangular face	ORPHA:85327
Kagami-Ogata Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Short neck, Micrognath...	ORPHA:254519
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Restlessness	OMIM:300266
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Microcephaly, Malabsorption, Retrognathia, Protruding ear, Hypogonadism, ...	OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Short nasal bridge, Microcephaly, Micrognathia, Polymicrogyria, Hydrocephalus, Aplasia/Hypoplasia...	OMIM:253280
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Prominent nasal bridge, Oral-pharyngeal dysphagia, Postnatal growth retardation, Long nose, Intra...	OMIM:619184
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Cerebrofacioarticular Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Dysplastic corpus callosum, Bilateral cho...	ORPHA:314679
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Nizon-Isidor Syndrome	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Aggressive behavior, Bulbous no...	OMIM:618872
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Hydrocepha...	ORPHA:3042
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Malar flattening, Coronal craniosynost...	OMIM:241310
Yunis-Varon Syndrome	Flat occiput, Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebrae, Congenital ...	OMIM:216340
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Convex nasal ridge, Decreased serum leptin, Micrognathia, Dental malocclusion,...	OMIM:614008
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Dolichocephaly, Hypertelorism, Hemiv...	OMIM:271520
Flat Face-Microstomia-Ear Anomaly Syndrome	Micrognathia, Long nose, Cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge, Hypoplasia...	ORPHA:1968
12Q14 Microdeletion Syndrome	Frontal bossing, Wide nose, Short stature, Prominent nasal bridge, Micrognathia, Abnormal nostril...	ORPHA:94063
Short Syndrome	Severe short stature, Triangular face, Abnormal dental enamel morphology, Abnormal zygomatic bone...	ORPHA:3163
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Short neck, Short thorax, Rectal at...	OMIM:617666
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Abnormality of the ...	ORPHA:3455
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Postnatal growth retardat...	OMIM:265050
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Male infertility, Nasal polyposis, Absent frontal sinuses, Anosmia, ...	OMIM:244400
Townes-Brocks Syndrome	Anteriorly placed anus, Triphalangeal thumb, Chorioretinal coloboma, Clinodactyly of the 5th fing...	ORPHA:857
1P36 Deletion Syndrome	Depressed nasal ridge, Brachycephaly, Deeply set eye, Abnormality of the neck, Conductive hearing...	ORPHA:1606
Short Syndrome	Delayed eruption of teeth, Frontal bossing, Triangular face, Micrognathia, Underdeveloped nasal a...	OMIM:269880
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Calcane...	ORPHA:261537
Primary Ciliary Dyskinesia	Male infertility, Nasal polyposis, Abnormal sperm motility, Female infertility, Hydrocephalus, Na...	ORPHA:244
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Hyperactivity, Mild postnatal growth retardation, Depressed nasal brid...	OMIM:235510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Hypoplasia of t...	OMIM:616538
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia, Cryptorchidism	OMIM:613730
Simosa Craniofacial Syndrome	Underdeveloped nasal alae, Long nose, Wide nasal bridge, Depressed nasal tip, Malar flattening, F...	OMIM:182150
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Wide nasal bridge	OMIM:601499
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of the iris, Ce...	OMIM:613001
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Hypertelorism, Low-set ears, Microphthalmia, Macrotia, Iris coloboma	OMIM:615145
Microcephaly-Capillary Malformation Syndrome	Wide nose, Short stature, Hypoplasia of the maxilla, Simplified gyral pattern, Short nose	OMIM:614261
Oculo-Palato-Cerebral Syndrome	Remnants of the hyaloid vascular system, Microcephaly, High, narrow palate, Small hand, Cleft pal...	ORPHA:2714
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature	OMIM:608154
Ulbright-Hodes Syndrome	Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomel...	ORPHA:3404
Van Maldergem Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Subcortical band heterotopia, Dental malocclusion, Simpl...	OMIM:601390
Tetraamelia Syndrome 1	Choanal atresia, Micrognathia, Hydrocephalus, Single naris, Cleft palate, Adrenal gland agenesis,...	OMIM:273395
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Cholelithiasis, Decreased circulatin...	OMIM:240300
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Overhanging nasal tip, Midface retrusion	OMIM:619142
Cohen Syndrome	Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Delayed puberty, ...	OMIM:216550
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Depressed nasal bridge, Short neck, Microcephaly, Cerebral atrophy,...	OMIM:615802
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r...	OMIM:613805
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose	ORPHA:90653
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism	ORPHA:1307
Treacher Collins Syndrome 1	Choanal atresia, Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft...	OMIM:154500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Micrognathia, Biliary hyperplasia, Choanal stenosis, Pancreatic hypopla...	ORPHA:83617
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla	OMIM:246560
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, Biparietal narrowing	ORPHA:228396
Andersen-Tawil Syndrome	Abnormality of dental color, Short stature, Persistence of primary teeth, Hypoplasia of the maxil...	ORPHA:37553
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Short stature, Anteverted nares, Cryptorchidism, Depressed nasal ridge, Self-in...	ORPHA:847
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Frontal bossing, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Prominent...	OMIM:610759
Van Maldergem Syndrome 2	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Subcortical band...	OMIM:615546
Thanatophoric Dysplasia Type 1	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia...	ORPHA:1860
Marfanoid-Progeroid-Lipodystrophy Syndrome	Prominent nasal bridge, Craniosynostosis, Narrow nasal ridge, Hydrocephalus, Scaphocephaly, Intra...	OMIM:616914
Recon Progeroid Syndrome	Prominence of the premaxilla, Short stature, Anteverted nares, Narrow nasal ridge, Prominent nasa...	OMIM:620370
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Cryptorchidism, Fibrous syngnat...	ORPHA:1300
Cockayne Syndrome Type 3	Cerebral white matter atrophy, Carious teeth, Kyphosis, Basal ganglia calcification, Deeply set e...	ORPHA:90324
Trichorhinophalangeal Syndrome Type 1	Frontal bossing, Short stature, Micrognathia, Supernumerary tooth, Bulbous nose, Triangular face	ORPHA:77258
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Micrognathia, Hemivertebrae, Dysplastic sacrum, Crypt...	OMIM:134780
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Calcane...	ORPHA:261552
Cockayne Syndrome	Cerebral calcification, Basal ganglia calcification, Deeply set eye, Cerebral dysmyelination, Cry...	ORPHA:191
Icf Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Short stature, Micrognathia, Flat face	ORPHA:2268
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Calcane...	ORPHA:2152
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colp...	OMIM:309801
Hypophosphatasia	Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap...	ORPHA:436
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Long nose, Short stature, Triangular face, Aggressive behavior	ORPHA:85329
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Supernumerary nipple, Microcephaly, Cryptorchidism, Postaxial hand polydacty...	ORPHA:2519
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b...	OMIM:616367
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Phthisis bulbi...	OMIM:259770
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Protruding ear, Deeply set ey...	ORPHA:500150
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, D...	ORPHA:3044
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid stern...	ORPHA:63260
Cleft Lip/Palate	Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Dental maloccl...	ORPHA:199306
Down Syndrome	Depressed nasal bridge, Depressed nasal ridge, Decreased fertility, Brachycephaly, Short nose, Fl...	ORPHA:870
Gorlin-Chaudhry-Moss Syndrome	Short stature, Hypoplasia of the maxilla, Brachycephaly, Aplasia/Hypoplasia of the nasal bone, Co...	ORPHA:2095
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Wide nose, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominent nose, Pectus excavatum...	OMIM:601552
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t...	ORPHA:1134
Gaucher Disease, Perinatal Lethal	Anteverted nares, Depressed nasal bridge, Micrognathia, Dysphagia, Neonatal death, Intrauterine g...	OMIM:608013
Acrofacial Dysostosis, Cincinnati Type	Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Aplastic z...	OMIM:616462
Larsen Syndrome	Short stature, Depressed nasal bridge, Craniosynostosis, Cryptorchidism, Malar flattening, Flat face	ORPHA:503
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Lateral ventricle dilatation, Micr...	OMIM:300952
Aspergillosis	Sinusitis, Abnormal rib morphology, Nasal congestion, Abnormal long bone morphology, Abnormality ...	ORPHA:1163
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent r...	OMIM:227645
Meier-Gorlin Syndrome 4	Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r...	OMIM:613804
Smith-Lemli-Opitz Syndrome	Intrauterine growth retardation, Hydrocephalus, Holoprosencephaly	OMIM:270400
Refsum Disease	Short metacarpal, Sensorineural hearing impairment, Anosmia, Hammertoe, Abnormal epiphysis morpho...	ORPHA:773
Distal Deletion 3P	Short stature, Anteverted nares, Micrognathia, Cryptorchidism, Brachycephaly, Intrauterine growth...	ORPHA:1620
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio...	OMIM:610682
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Short stature, Flat face, Broad nasal tip	ORPHA:401923
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Hypoplasia of the pharynx, Sh...	OMIM:182210
Immunodeficiency 47	Sensorineural hearing impairment, Hypotelorism	OMIM:300972
Angelman Syndrome	Mandibular prognathia, Hyperactivity, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Par...	OMIM:105830
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Oligomeganephronia	Branchial cyst, Optic disc coloboma, Micrognathia, Hearing impairment	ORPHA:2260
Noonan Syndrome With Multiple Lentigines	Short stature, Cryptorchidism, Brachycephaly, Decreased fertility, Wide nasal bridge, Growth dela...	ORPHA:500
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Craniosynostosis, Hydrocephalus, Abnormal ri...	ORPHA:667
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest...	ORPHA:93941
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Anteverted nares, Flat face	OMIM:618154
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Frontal bossing, Wide nose, Short stature, Prominent nasal bridge, Hyp...	ORPHA:50814
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Hypogonadism, Retinal coloboma, Cryptorchidism	ORPHA:363741
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Lymphedema-Distichiasis Syndrome	Micrognathia, Kyphosis, Cleft palate, Webbed neck, Microphthalmia, Cystic hygroma	OMIM:153400
Meier-Gorlin Syndrome 3	Microretrognathia, Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla...	OMIM:613803
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Hemivertebrae, Brachycephaly, Femoral bowing, Anteriorly pl...	OMIM:201750
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Intrauterine growth retardation, Miscarriage, Triangular face	ORPHA:96181
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cerebellar hypoplasia	OMIM:618805
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Rhizomelia, Prominent nose, Broad nasal tip, Oligozoospermia, Growth delay...	OMIM:614813
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Conductive hearing impairment, Anteverted nares, Hypertelorism, Rib fusion, Wide...	OMIM:157800
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persistence of prim...	ORPHA:93325
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Depressed nasal bridge, Hydrocephalus, Head-banging, Self-injurious behavior, Late...	OMIM:619575
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Short stature, Brachycephaly, Triangular face	OMIM:610968
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Frontal bossing, Micrognathia, Postnatal growth retardation, Cryptorchidism, Severe intrauterine ...	ORPHA:96182
Osteopetrosis, Autosomal Recessive 8	Frontal bossing, Unilateral microphthalmos, Macrocephaly	OMIM:615085
Rodrigues Blindness	Narrow nasal bridge, Microphthalmia, Protruding ear	OMIM:268320
Nablus Mask-Like Facial Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Hypoplasia of the ma...	OMIM:608156
Wiedemann-Steiner Syndrome	Hyperactivity, Rhizomelia, Short stature, Aggressive behavior, Postnatal growth retardation, Wide...	ORPHA:319182
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormal rib morphology, Webbe...	ORPHA:1666
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Frontal bossing, Short stature, Colpocephaly, Agenesis of corpus callosum, Triangular face, Low h...	OMIM:617260
Alagille Syndrome 1	Frontal bossing, Hypoplasia of the ulna, Depressed nasal bridge, Hypertelorism, Long nose, Bulbou...	OMIM:118450
Restrictive Dermopathy	Micrognathia, Aplasia/Hypoplasia involving the nose, Hypertelorism, Temporomandibular joint ankyl...	ORPHA:1662
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat occiput, Flat face, Micrognathia	ORPHA:2001
Blepharophimosis, Ptosis, And Epicanthus Inversus	Depressed nasal bridge, Increased circulating gonadotropin level, Cupped ear, Wide nasal bridge, ...	OMIM:110100
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Chronic sinusitis	OMIM:619607
Branchiootic Syndrome 3	Branchial cyst, Sensorineural hearing impairment	OMIM:608389
Cleft Velum	Hypoplasia of the maxilla, Oral-pharyngeal dysphagia	ORPHA:99772
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Supernumerary nipple, Microcephaly, Pachygyria, Cortical dysplasia...	OMIM:100300
Rubinstein-Taybi Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Prominent nose, Spina bifida o...	OMIM:180849
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Slender nose, Convex nasal ridge, Triangular face	ORPHA:397695
Temtamy Preaxial Brachydactyly Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Growth delay, Short nose	ORPHA:363417
Papillorenal Syndrome	Sensorineural hearing impairment, Optic disc coloboma, Retinal coloboma, Scoliosis, Microphthalmia	OMIM:120330
Autosomal Recessive Faciodigitogenital Syndrome	Frontal bossing, Short stature, Anteverted nares, Prominent nasal bridge, Micrognathia, Brachycep...	ORPHA:1974
Progressive Non-Infectious Anterior Vertebral Fusion	Depressed nasal bridge, Micrognathia, Brachycephaly, Wide nasal bridge, Flat face	ORPHA:2062
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Frontal bossing, Short stature, Anteverted nares, Depressed nasal bridge, Postnatal growth retard...	OMIM:613563
Aymé-Gripp Syndrome	Short stature, Depressed nasal bridge, Craniosynostosis, Postnatal growth retardation, Cryptorchi...	ORPHA:1272
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Aggressive behavior, Bilateral cryp...	ORPHA:466791
Ayme-Gripp Syndrome	Mandibular prognathia, Short stature, Depressed nasal bridge, Brachycephaly, Wide nasal bridge, F...	OMIM:601088
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Clubbing of fingers, Microphthalmia, Volvulus, Decreased testicular size	ORPHA:335
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Syndactyly, Choanal atresia, Spina bifi...	OMIM:192350
Leopard Syndrome 1	Mandibular prognathia, Short stature, Cryptorchidism, Spina bifida occulta, Depressed nasal ridge...	OMIM:151100
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Frontal bossing, Narrow nasal bridge, Short stature, Micrognathia, Hyp...	OMIM:259600
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Microphthalmia, Hearing impairment, Protruding ear	ORPHA:1806
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha...	ORPHA:231736
Familial Exudative Vitreoretinopathy	Microphthalmia, Microcephaly, Hearing impairment	ORPHA:891
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Deeply set eye	OMIM:305390
Distal Deletion 12Q	Frontal bossing, Hyperactivity, Short stature, Unilateral cryptorchidism, Anteverted nares, Micro...	ORPHA:96149
Nager Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Abnormal nasal morphology, Micrognathia	ORPHA:245
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Hypothyroidism, Lens coloboma, Abnormal sternum morphology,...	ORPHA:42775
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Micrognathia, Oligozoospermia, Growth delay, S...	ORPHA:125
Fanconi Anemia, Complementation Group E	Hypergonadotropic hypogonadism, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent r...	OMIM:600901
Tolchin-Le Caignec Syndrome	Micrognathia, Prominent nose, Scaphocephaly, Oxycephaly, Wide nasal bridge, Prominent occiput, At...	OMIM:618971
Omodysplasia 1	Frontal bossing, Rhizomelia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide nasal bri...	OMIM:258315
Lymphangiectasia, Pulmonary, Congenital	Depressed nasal bridge, Mild postnatal growth retardation, Wide nasal bridge, Malar flattening, F...	OMIM:265300
Rapp-Hodgkin Syndrome	Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Cari...	OMIM:129400
Fanconi Anemia, Complementation Group A	Hypergonadotropic hypogonadism, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent r...	OMIM:227650
17Q24.2 Microdeletion Syndrome	Aggressive behavior, Micrognathia, Wide nasal bridge, Secondary amenorrhea, Midface retrusion, Tr...	ORPHA:529962
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Larsen Syndrome	Frontal bossing, Short stature, Depressed nasal bridge, Cryptorchidism, Flat face, Malar flatteni...	OMIM:150250
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Turricephaly, Camptodactyly of finger, Trismus, Xerostomia, Abnormal rib morph...	ORPHA:2907
Mandibuloacral Dysplasia Progeroid Syndrome	Frontal bossing, Short stature, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Postnat...	OMIM:619127
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Frontal bossing, Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Disprop...	OMIM:619479
Distal Deletion 15Q	Flat occiput, Short stature, Micrognathia, Postnatal growth retardation, Cryptorchidism, Broad na...	ORPHA:1596
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo...	OMIM:209885
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Mullegama-Klein-Martinez Syndrome	Frontal bossing, Short stature, Depressed nasal bridge, Micrognathia, Prominent nose, Bulbous nos...	OMIM:301022
Floating-Harbor Syndrome	Narrow nasal bridge, Restlessness, Short stature, Impulsivity, Persistence of primary teeth, Hypo...	ORPHA:2044
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:212550
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Short stature, Anteverted nares, Broad nasal tip, Hypoplasia of the maxill...	OMIM:617402
Hennekam Syndrome	Delayed eruption of teeth, Mild postnatal growth retardation, Depressed nasal bridge, Craniosynos...	ORPHA:2136
Craniofacioskeletal Syndrome	Short stature, Choanal atresia, Micrognathia, Cryptorchidism, Hypoplastic frontal sinuses, Intrau...	OMIM:300712
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Basal ganglia calcification, Sensorineural hearing impairment, Hypogonadism, Microp...	OMIM:610651
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp...	ORPHA:2334
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty	ORPHA:99429
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate, Microcephaly	OMIM:257910
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Cowden Syndrome 5	Hypoplasia of the maxilla, Hydrocele testis, Micrognathia	OMIM:615108
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Semilobar holoprosencephaly	OMIM:129900
Goldberg-Shprintzen Syndrome	Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasal bridge, Pachygyria, P...	OMIM:609460
Histiocytoid Cardiomyopathy	Hydrocephalus, Cleft palate, Polycystic ovaries, Microphthalmia, Agenesis of corpus callosum, Con...	ORPHA:137675
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Wide nasal bridge, Bilateral choanal atresia	OMIM:106260
Primrose Syndrome	Restlessness, Short stature, Hypergonadotropic hypogonadism, Anteverted nares, Aggressive behavio...	OMIM:259050
Cleidocranial Dysplasia 2	Plagiocephaly, Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Kyphosis, Cryptorchidism, Hip dislocation, Periventricular cysts, Genu v...	OMIM:309000
Cowden Syndrome 6	Hypoplasia of the maxilla, Hydrocele testis, Micrognathia	OMIM:615109
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Anterior Segment Dysgenesis 2	Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia	OMIM:610256
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short stature, Anteverted nares, Broad nasal tip, Carious teeth, Cryptorchidism, Long nose, Bulbo...	OMIM:619522
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Omphalocele Syndrome, Shprintzen-Goldberg Type	Hypoplasia of the pharynx, Short columella, Scoliosis, Webbed neck, Anal atresia	ORPHA:3164
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly	OMIM:107480
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma	OMIM:269400
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Frontal bossing, Sinusitis, Anteverted nares	ORPHA:238468
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Sensorineural hearing impairment, Microcephaly	OMIM:278730
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Decreased fertility in females, Decreased fertility, Polyphagia, Triangula...	OMIM:269700
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Severe short stature, Malar flattening	OMIM:231070
Cowden Syndrome 1	Hypoplasia of the maxilla, Hydrocele testis, Micrognathia	OMIM:158350
Kindler Epidermolysis Bullosa	Finger syndactyly, Turricephaly, Abnormal dental enamel morphology, Camptodactyly of finger, Cari...	ORPHA:2908
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Microcep...	OMIM:609049
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Spina bifida, Microcephaly, Meningocele, Abnormal ri...	ORPHA:991
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Polyphagia, Triangular face, Decreased fertility in females	OMIM:608594
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rh...	OMIM:305100
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp...	ORPHA:85450
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Woodhouse-Sakati Syndrome	Streak ovary, Premature ovarian insufficiency, Triangular face, Prominent nose, Growth delay, Abn...	ORPHA:3464
Phace Association	Optic nerve hypoplasia, Congenital hypothyroidism, Cerebellar hypoplasia, Microphthalmia, Dandy-W...	OMIM:606519
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia	OMIM:601374
Noonan Syndrome 1	Male infertility, Short stature, Micrognathia, Postnatal growth retardation, Cryptorchidism, Dent...	OMIM:163950
Stickler Syndrome	Short stature, Abnormal dental enamel morphology, Anteverted nares, Micrognathia, Hypoplasia of t...	ORPHA:828
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Basal ganglia calcification, Macrocephaly, Microphthalmia, Thickened cortex o...	OMIM:127000
Dyskeratosis Congenita	Short stature, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Intrauterine growth retarda...	ORPHA:1775
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Micrognathia, Bilateral...	ORPHA:1772
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Cystinosis, Nephropathic	Male infertility, Frontal bossing, Short stature, Oral-pharyngeal dysphagia, Dysphagia, Growth de...	OMIM:219800
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Buphthalmos	OMIM:310600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:221900
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Ablepharon Macrostomia Syndrome	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, G...	ORPHA:920
Peters-Plus Syndrome	Frontal bossing, Rhizomelia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Postnatal...	OMIM:261540
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, T...	OMIM:241080
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Choanal atresia, Hypoplasia of th...	OMIM:604292
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, Convex nasal ridge	OMIM:614437
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Leukoencephalopathy, Hypop...	OMIM:175780
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Cystic Fibrosis	Male infertility, Nasal polyposis, Chronic sinusitis	OMIM:219700
Distal Deletion 19P	Hypoplasia of the maxilla	ORPHA:96129
Singleton-Merten Syndrome 1	Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the toot...	OMIM:182250
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:180500
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum	ORPHA:401820
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Disproportionate short-trunk short stature	OMIM:300106

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 Pgap1

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 Pgap1.

No publications found that use IMPC mice or data for Pgap1.

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MGI Allele	Allele Type	Produced
Pgap1^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pgap1 MGI:2443342

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Combined SHIRPA and Dysmorphology

Electroretinography 3

Eye Morphology

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Pgap1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data