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Gene: Pgap1 MGI:2443342

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Gene Summary

Name:
post-GPI attachment to proteins 1
Synonyms:
D230012E17Rik,  9030223K07Rik,  5033403E17Rik,  PGAP1,  oto

Order Alleles

IMPC Data Collections

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 Pgap1em1(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.

Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 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 Lateral Orientation

10 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.

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
Depressed nasal bridge, Macrotia, Bifid uvula, Deeply set eye, Cerebellar vermis hypoplasia, Prom... OMIM:615802
Autosomal Recessive Non-Syndromic Intellectual Disability
Large basal ganglia, Absent septum pellucidum, Polymicrogyria, Cerebral atrophy, Hypoplasia of th... ORPHA:88616
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401820

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dwarfism With Tall Vertebrae
Coxa vara, Increased vertebral height OMIM:126950
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia OMIM:611638
Cataract-Intellectual Disability-Hypogonadism Syndrome
Micrognathia, High palate, Depressed nasal bridge, Abnormal distal phalanx morphology of finger, ... ORPHA:1387
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Malar flattening, Abnormality of the ear, Delayed cranial suture closure, Hypotelorism, Hearing a... ORPHA:2511
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft palate, Depressed nasal bridge, Microphthalmia, Holoprosencephaly, Hypotelorism, Deeply set... OMIM:612530
Cutis Laxa, Autosomal Recessive, Type Iib
Large fontanelles, Bowing of the long bones, Hypotelorism, Malar flattening, Congenital hip dislo... OMIM:612940
Cerebrooculonasal Syndrome
Cleft palate, High palate, Brachycephaly, Anophthalmia, Short nose, Malar flattening, Posteriorly... OMIM:605627
Holoprosencephaly 2
Aplasia of the nose, Microphthalmia, Diabetes insipidus, Median cleft lip and palate, Holoprosenc... OMIM:157170
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Coxa valga, Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Holoprosencephaly 5
High palate, Depressed nasal bridge, Lobar holoprosencephaly, Holoprosencephaly, Trigonocephaly, ... OMIM:609637
Holoprosencephaly
Abnormal form of the vertebral bodies, Iris coloboma, Aplasia/Hypoplasia involving the nose, Apla... ORPHA:2162
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Midnasal stenosis, Microphthalmia, Holoprosencephaly, Anophthalmia, Cyc... OMIM:147250
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Malar flattening, Anteverted nares, Low posterior hairline, Low-set ears, Deeply set eye, Plagioc... OMIM:618672
Holoprosencephaly 3
Cleft palate, Depressed nasal bridge, Holoprosencephaly, Short columella, Malar flattening, Bifid... OMIM:142945
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, Microphthalmia, Hemivertebrae, Median cleft lip and palate, Holoprosencephaly... OMIM:264480
Trisomy 18
Cleft palate, Short nose, Iris coloboma, Deviation of finger, Aplasia/Hypoplasia of the corpus ca... ORPHA:3380
Dextrocardia With Unusual Facies And Microphthalmia
Prominent nose, Micrognathia, Cleft palate, Microphthalmia, Vertebral fusion, Anophthalmia, Macro... OMIM:221950
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Verte... ORPHA:1570
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Intrauterine growth retardation, Microcephaly OMIM:306990
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Microphthalmia, Cloverleaf skull, Large fontanelles, Abnormality of epiphysis morph... ORPHA:93267
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Conductive hearing impairment, Micrognathia,... ORPHA:3082
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
10Q22.3Q23.3 Microduplication Syndrome
Chronic otitis media, Abnormal clavicle morphology, Hypotelorism, Deeply set eye, Abnormal rib mo... ORPHA:276422
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Microphthalmia, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thu... ORPHA:3186
Non-Distal Trisomy 13Q
Micrognathia, High palate, Trigonocephaly, Short nose, Hypotelorism, Arachnodactyly, Aplasia/Hypo... ORPHA:1702
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Mandibular aplasia, Microglossia, Low-set, posteriorly rotated ears, Aplasia/H... ORPHA:990
Camptodactyly Syndrome, Guadalajara, Type Ii
Hallux valgus, Micrognathia, Short middle phalanx of finger, Short 5th toe, Short 2nd toe, Pectus... OMIM:211920
Microform Holoprosencephaly
Maternal diabetes, Midnasal stenosis, Cleft palate, Duodenal atresia, Holoprosencephaly, Short no... ORPHA:280200
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Holoprosencephaly 13, X-Linked
Micrognathia, Butterfly vertebrae, Aplasia of the nose, Cleft palate, Septo-optic dysplasia, Duod... OMIM:301043
Trisomy 13
Cleft palate, Malar flattening, Iris coloboma, Abnormality of pelvic girdle bone morphology, Low-... ORPHA:3378
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Acrocraniofacial Dysostosis
Abnormality of the vertebral column, Conductive hearing impairment, Micrognathia, Abnormal audito... OMIM:201050
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cleft palate, Abnormality of the diencephalon, Radial club hand, Holoprosencephaly, Hypertelorism... ORPHA:2165
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Cleft palate, Short nose, Syndactyly, Anteverted nares, Low-set ears, Radioul... OMIM:614701
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Micrognathia, Pectus excavatum, Abnormal vertebral morphology, Kyphoscoliosis, Hypotelorism, Macr... OMIM:616817
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, H... OMIM:617719
Richieri-Costa/Guion-Almeida Syndrome
Pectus excavatum, Cleft palate, Brachycephaly, Mandibular prognathia, Hypotelorism, Malar flatten... OMIM:268850
Non-Distal Trisomy 10Q
Micrognathia, Convex nasal ridge, Depressed nasal bridge, High palate, Pectus excavatum, Brachyce... ORPHA:1695
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Neu-Laxova Syndrome 2
Depressed nasal ridge, Micrognathia, High palate, Cleft palate, Rocker bottom foot, Hypertelorism... OMIM:616038
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Deviation of the 5th toe, Short nose, Slender finger, Diabetes mellitus, Cerebellar hypoplasia, A... ORPHA:391408
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Pectus excavatum, Kyphoscoliosis, Supernumerary tooth, Hypotelorism, W... OMIM:264475
Acrootoocular Syndrome
Prominent calcaneus, Delayed eruption of teeth, Short toe, Low-set ears, Atresia of the external ... ORPHA:2980
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cleft palate, Thyroid hypoplasia, Abnormality of the hypothalamus-pituitary axis, Hypoplasia of t... ORPHA:2166
Autosomal Dominant Brachyolmia
Abnormality of the metaphysis, Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Brachydactyly, Spina bifida occulta ORPHA:2956
Developmental And Epileptic Encephalopathy 87
Prominent nose, High palate, Hypotelorism, Hypertelorism, Bulbous nose, Cerebral atrophy, Midface... OMIM:618916
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, High palate, Cerebral white matter atrophy, Short nose, Hypotelorism, Cerebellar hy... OMIM:615042
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small anterior fontanelle, Large beaked nose, High palate, Metopic suture patent to nasal root, T... ORPHA:3369
Distal Monosomy 10Q
Cleft palate, Short metatarsal, Short nose, Cerebellar hypoplasia, Low-set ears, Protruding ear, ... ORPHA:96148
Acrocraniofacial Dysostosis
Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Short 1st metacarpal, T... ORPHA:949
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... ORPHA:439822
Trisomy 1Q
Cleft palate, Short thorax, Hydrocephalus, Cerebellar hypoplasia, Camptodactyly of finger, Low-se... ORPHA:261344
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Chromosome 5P13 Duplication Syndrome
High palate, Brachycephaly, Long fingers, Low posterior hairline, Craniosynostosis, Hypotelorism,... OMIM:613174
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Coloboma, Microphthalmia, Vertebral fusion, Anophthalmia, Hypogona... OMIM:206900
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Micrognathia, Cleft palate, High palate, 2-3 toe syndactyly, Metaphyseal widening, Rhizomelia, Hy... OMIM:617164
Trigonocephaly 1
Meckel diverticulum, Trigonocephaly, Craniosynostosis, Hypotelorism, Lumbar hemivertebrae, Microc... OMIM:190440
Pierpont Syndrome
Abnormal cortical gyration, Microphthalmia, Short finger, Brachycephaly, Wide nasal ridge, Macrot... ORPHA:487825
Proboscis Lateralis
Proboscis, Iris coloboma, Cyclopia, Choanal atresia, Abnormal paranasal sinus morphology, Abnorma... ORPHA:141099
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology ORPHA:163665
Semilobar Holoprosencephaly
Cleft palate, Neural tube defect, Proboscis, Hydrocephalus, Cyclopia, Abnormal morphology of the ... ORPHA:220386
Alobar Holoprosencephaly
Cleft palate, Neural tube defect, Proboscis, Hydrocephalus, Cyclopia, Abnormal morphology of the ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cleft palate, Neural tube defect, Proboscis, Hydrocephalus, Cyclopia, Abnormal morphology of the ... ORPHA:93926
Lobar Holoprosencephaly
Cleft palate, Neural tube defect, Proboscis, Hydrocephalus, Cyclopia, Abnormal morphology of the ... ORPHA:93924
Holoprosencephaly 7
Short nose, Iris coloboma, Hypoplasia of the premaxilla, Flat nasal alae, Hydrocephalus, Alobar h... OMIM:610828
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect OMIM:608681
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Cerebral white matter hypoplasia, Hypotelorism, Clinodactyly, Pachygyria, Syndactyly, Hypoplasia ... OMIM:619091
Cerebrooculofacioskeletal Syndrome 2
Large beaked nose, Micrognathia, Convex nasal ridge, Microphthalmia, Rocker bottom foot, Kyphosco... OMIM:610756
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Craniosynostosis, Hypotelorism, Absent s... OMIM:218670
16P13.11 Microdeletion Syndrome
Pectus excavatum, Cleft palate, Depressed nasal bridge, Metatarsus valgus, Holoprosencephaly, Sho... ORPHA:261236
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, High palate, Depressed nasal bridge, Diabetes insipidus, Hypotelor... OMIM:618500
Alkuraya-Kucinskas Syndrome
Short nose, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Camp... OMIM:617822
6P22 Microdeletion Syndrome
Overfolded helix, Hypotelorism, Hearing impairment, Finger syndactyly, Hydrocephalus, Low-set ear... ORPHA:251046
Epiphyseal Dysplasia, Multiple, 6
Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Flat capital femoral epiphysis, Flat... OMIM:614135
Hydrolethalus
Arrhinencephaly, Micrognathia, Cleft palate, Anencephaly, Microphthalmia, Submucous cleft hard pa... ORPHA:2189
Meckel Syndrome, Type 8
Depressed nasal ridge, Cleft palate, Microphthalmia, Polydactyly, Anophthalmia, Short nose, Posta... OMIM:613885
Pierpont Syndrome
Large fleshy ears, Short nose, Malar flattening, Hearing impairment, Short toe, Prominent fingert... OMIM:602342
Cofs Syndrome
Micrognathia, Microphthalmia, Wide nasal bridge, Sensorineural hearing impairment, Microcephaly, ... ORPHA:1466
Warburg Micro Syndrome 1
Micrognathia, Perisylvian polymicrogyria, Microphthalmia, Kyphoscoliosis, Macrotia, Wide nasal br... OMIM:600118
Mosaic Trisomy 9
Cleft palate, Bulbous nose, Camptodactyly of finger, Low-set ears, Finger clinodactyly, Micrognat... ORPHA:99776
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Micrognathia, Cleft palate, Depressed nasal bridge, Pectus excavatum, Microphthalm... OMIM:616734
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Cleft palate, Anophthalmia, Hypertelorism, Low-set, posteriorly r... ORPHA:1104
Harrod Syndrome
Protruding ear, High palate, Long nose, Hypotelorism, Arachnodactyly, Kyphosis, Microcephaly, Den... ORPHA:2115
Mosaic Trisomy 14
Micrognathia, Cleft palate, High palate, Ectopic anus, Hypertelorism, Low-set, posteriorly rotate... ORPHA:1703
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Micrognathia, Cerebral white matter hypoplasia, Adducted thumb, Hypertelorism, Wide nasal bridge,... ORPHA:3207
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Depressed nasal bridge, Adducted thumb, Rocker bottom foot, Mandibular prognathia, Hypotelorism, ... OMIM:618622
Mental Retardation, Autosomal Recessive 13
Hypertelorism, Hypotelorism, Wide nasal bridge, Secondary microcephaly, Short neck, Hypoplasia of... OMIM:613192
Diastrophic Dysplasia
Cleft palate, Overfolded helix, Abnormal form of the vertebral bodies, Symphalangism affecting th... ORPHA:628
Saethre-Chotzen Syndrome
Hallux valgus, Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Hearing ... ORPHA:794
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Coronal cleft vertebrae, Epiphyseal stippling, Bowing of the long bones, Hypotelorism... ORPHA:1952
Mental Retardation, Autosomal Dominant 7
Hallux valgus, Micrognathia, Pectus excavatum, Hypotelorism, Macrotia, Abnormality of the pinna, ... OMIM:614104
Baraitser-Winter Syndrome 2
Microphthalmia, Trigonocephaly, Webbed neck, Hypertelorism, Abnormality of the pinna, Hearing imp... OMIM:614583
Cranioectodermal Dysplasia
Abnormal diaphysis morphology, Pectus excavatum, Rhizomelia, Craniosynostosis, Abnormal dental en... ORPHA:1515
Braddock Syndrome
Micrognathia, Pectus excavatum, Hemivertebrae, Overfolded helix, Hypotelorism, Missing ribs, Post... ORPHA:52047
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Kyphoscol... OMIM:214150
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Microphthalmia, Rocker bottom foot, Low-set ears, Microcephaly OMIM:616570
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hemivertebrae, Abnormal vertebral morphology, Holoprosencephaly, Anophthalmia, Es... ORPHA:77298
Monosomy 18P
Carious teeth, Micrognathia, Cleft palate, Pectus excavatum, Microphthalmia, Enlarged thorax, Bra... ORPHA:1598
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Holoprosencephaly, Craniosynostosis, Hypotelorism, Brachydactyly, S... ORPHA:2163
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Duodenal atresia, Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Camptodactyly of finge... ORPHA:468631
Trisomy 18P
Pyloric stenosis, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Hypotelorism, Abn... ORPHA:1715
Holoprosencephaly 9
Cleft palate, Malar flattening, Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Hydr... OMIM:610829
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly OMIM:269630
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Hypoplasia of the brainstem, Polymicrogyria, Cerebellar hypoplasia, Cortical dysp... OMIM:615771
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Schmorl's node, Irregular vertebral endplates, Beaking of vertebral bodies, Plat... OMIM:604864
Frontoocular Syndrome
Micrognathia, High palate, Pectus excavatum, Trigonocephaly, Hypotelorism, Prominent nasal bridge... OMIM:605321
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Depressed nasal ridge, Cleft palate, Dysplastic corpus callosum, Limb undergrowth, Hypotelorism, ... OMIM:601016
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, High palate, Short nose, Abnormality of the pinna, Hypertelorism, Hypotelorism, ... OMIM:613544
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius, Hypotelorism, Anal atresia, Abnormality of the... ORPHA:3469
Trigonocephaly With Short Stature And Developmental Delay
Small anterior fontanelle, Convex nasal ridge, High palate, Trigonocephaly, Hypotelorism, Posteri... OMIM:314320
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cleft palate, Short nose, Hearing impairment, Bulbous nose, Polymicrogyria, Anteverted nares, Low... OMIM:618454
Temtamy Syndrome
Micrognathia, Convex nasal ridge, Microphthalmia, Genu varum, Chorioretinal coloboma, Hypertelori... ORPHA:1777
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Large fontanelles, Median cleft lip and palate, Mandibular a... ORPHA:1832
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Micrognathia, Microphthalmia, Simplified gyral pattern, Proptosis, Cerebral atrop... OMIM:616171
Galloway-Mowat Syndrome
Micrognathia, Abnormal intervertebral disk morphology, Adducted thumb, Hypotelorism, Macrotia, Hy... ORPHA:2065
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low hanging columella, Bulbous nose, Hydrocephalus, Thin corpus callosum, Cerebellar hypoplasia, ... OMIM:619512
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Intrauterine growth retardation, Abnormality of the diencephalon, Holoprosenceph... ORPHA:2570
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Micrognathia, Hypertelorism, Frontal bossing, Hydrocephalus, Orbital c... ORPHA:1538
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sco... ORPHA:3268
Warburg Micro Syndrome 3
Micrognathia, Microphthalmia, Brachycephaly, Kyphoscoliosis, Short nose, Macrotia, Narrow palate,... OMIM:614222
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Microcephaly, Clinodactyly, Delayed puberty, Brachyda... OMIM:233270
Microcephaly, Autosomal Dominant
Hypotelorism, Broad hallux, Broad thumb, Protruding ear, Microcephaly OMIM:156580
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Prominent nose, High palate, Depressed nasal bridge, Hemivertebrae, Mandibular prognathia, Abnorm... ORPHA:2180
Craniofacial Dyssynostosis
Underdeveloped nasal alae, Micrognathia, Craniosynostosis, Hypertelorism, Wide nasal bridge, Fron... ORPHA:1516
Tonne-Kalscheuer Syndrome
Prominent nose, Micrognathia, Velopharyngeal insufficiency, Malar flattening, Prominent nasal bri... OMIM:300978
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Micrognathia, High palate, Trigonocephaly, Cerebral white matter atrophy, Short nose, Hypoteloris... ORPHA:329178
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Microphthalmia, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of ... OMIM:300863
Hadziselimovic Syndrome
High palate, Hypotelorism, Posteriorly rotated ears, Prominent nasal bridge, Anal atresia, Cerebe... OMIM:612946
Spinal Dysplasia, Anhalt Type
Spinal dysplasia, Osteoarthritis of the small joints of the hand, Coxa vara, Absent spinous proce... OMIM:601344
Oculodentodigital Dysplasia
Carious teeth, Cleft palate, Thin anteverted nares, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Underdeveloped nasal alae, Micrognathia, High palate, Pectus carinatum, Hypotelorism, Hypertelori... OMIM:300986
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger,... ORPHA:163649
Ritscher-Schinzel Syndrome 4
Plagiocephaly, Premature anterior fontanel closure, Dandy-Walker malformation, High palate, Dysge... OMIM:619435
Aminopterin Syndrome Sine Aminopterin
Micrognathia, Cleft palate, High palate, Megalencephaly, Rudimentary postaxial polydactyly of han... OMIM:600325
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Prominent nasal tip, Pineal cyst, Micrognathia, Depressed nasal bridge, Cleft palate, Metatarsus ... ORPHA:513456
Mandibulofacial Dysostosis-Microcephaly Syndrome
Large earlobe, Conductive hearing impairment, Micrognathia, Morphological abnormality of the midd... ORPHA:79113
Vacterl With Hydrocephalus
Arrhinencephaly, Microtia, third degree, Micrognathia, Microphthalmia, Hemivertebrae, Anophthalmi... ORPHA:3412
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Micrognathia, Microphthalmia, Thin ribs, Abnormality of the calcaneus, Hyp... ORPHA:163966
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Cleft palate, Microphthalmia, Anophthalmia, Cleft ala nasi, Congenital... OMIM:164180
Holoprosencephaly 1
Aplasia of the nose, Microphthalmia, Diabetes insipidus, Median cleft lip and palate, Hypoteloris... OMIM:236100
Multiple Pterygium-Malignant Hyperthermia Syndrome
Cleft palate, Finger syndactyly, Abnormal mandible morphology, Camptodactyly of finger, Plagiocep... ORPHA:2215
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic he... ORPHA:1436
Seckel Syndrome 7
Abnormality of the carpal bones, Prominent nose, Central hypothyroidism, Hypotelorism, Hip dyspla... OMIM:614851
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Osteogenesis Imperfecta, Type Vi
Biconcave vertebral bodies, Beaking of vertebral bodies, Coxa vara, Vertebral compression fractur... OMIM:613982
Vissers-Bodmer Syndrome
Holoprosencephaly, Intrauterine growth retardation OMIM:619033
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypotelorism, Posteriorly rotated ears, Simplified gyral pattern, Progressive microcephaly, Cereb... OMIM:615760
Microtia-Anotia
Holoprosencephaly OMIM:600674
Adams-Oliver Syndrome 2
Micrognathia, Depressed nasal bridge, Microphthalmia, Hypertelorism, Bulbous nose, Polymicrogyria... OMIM:614219
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Microphthalmia With Limb Anomalies
Cleft palate, Short nose, Low-set ears, Toe syndactyly, High palate, Hand oligodactyly, Depressed... OMIM:206920
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Microphthalmia, Brachycephaly, Hypogonadism, Retrognathia, Microcephaly ORPHA:2528
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Micrognathia, Abnormality of the pinna, Congenital hip dislocation, Kyphosis, Macrocephaly, Polym... OMIM:618291
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Cleft palate, Hearing impairment, Bulbous nose, Cerebellar hypoplasia, Low-set ears, Choanal atre... OMIM:300968
Baraitser-Winter Syndrome 1
Overfolded helix, Short nose, Iris coloboma, Anteverted nares, Low posterior hairline, Low-set ea... OMIM:243310
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Malar flattening, Iris coloboma, Low posterior hairline, L... ORPHA:2789
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Adducted thumb, Rocker bottom foot, Flexion contracture of toe, Kyphoscoliosis, Low... OMIM:610758
Frontonasal Dysplasia 1
Conductive hearing impairment, Broad nasal tip, Microphthalmia, Hypoplastic frontal sinuses, Shor... OMIM:136760
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Cleft palate, Retinal coloboma, Prominent protruding coccyx, Ab... ORPHA:2839
Schilbach-Rott Syndrome
Prominent nose, Micrognathia, Long nose, Hypotelorism, Posteriorly rotated ears, Bifid uvula, 2-3... OMIM:164220
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Micrognathia, High palate, Pectus excavatum, Hypotelorism, Hearing impairment, Hyperthyroidism, S... ORPHA:502423
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Bresek Syndrome
Plagiocephaly, Convex nasal ridge, Cleft palate, Aganglionic megacolon, Hemivertebrae, Microphtha... ORPHA:85284
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Duodenal atresia, Bulbous nose, Syndactyly, Anteverted nares, Low-set ears, Choanal atresia, Colo... OMIM:616975
Autosomal Dominant Spondylocostal Dysostosis
Cleft palate, Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Wide nasal bridge, ... ORPHA:1797
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
14Q22Q23 Microdeletion Syndrome
Short 5th metacarpal, Abnormality of the hypothalamus-pituitary axis, Malar flattening, Hearing i... ORPHA:264200
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Broad nasal tip, Anophthalmia, Hypoplasia of the pons, Prominent ear helix, Promin... ORPHA:411986
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Abnormal form of the vertebral bodies, Short nose, Camptodactyly of finger, Short ... ORPHA:1327
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly, Underdeveloped nasal alae, Micrognathia, Depressed nasal ridge, Pectus excavatum, ... ORPHA:77300
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Micrognathia, High palate, Hypoplastic scapulae, Rhizomelia, Scapu... OMIM:602471
Craniosynostosis 2
Brachyturricephaly, Triphalangeal thumb, Brachycephaly, Trigonocephaly, Cleft soft palate, Cranio... OMIM:604757
Baller-Gerold Syndrome
Brachyturricephaly, Cleft palate, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radi... ORPHA:1225
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea, Cerebral atrophy OMIM:212840
Microphthalmia, Syndromic 12
Micrognathia, Broad nasal tip, Microphthalmia, Anophthalmia, Wide nasal bridge, Retrognathia, Cry... OMIM:615524
Cutis Laxa, Autosomal Recessive, Type Iiia
Pectus excavatum, Adducted thumb, Large fontanelles, Brachycephaly, Hypotelorism, Macrotia, Wormi... OMIM:219150
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Mandibular prognathia, Anophthalmia, Macrotia, Hearing impairmen... ORPHA:90322
Walker-Warburg Syndrome
Cleft palate, Iris coloboma, Polymicrogyria, Hydrocephalus, Cerebellar hypoplasia, Low-set ears, ... ORPHA:899
Holoprosencephaly 11
Cleft palate, Holoprosencephaly, Hypotelorism, Proptosis, Agenesis of corpus callosum, Microcephaly OMIM:614226
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Micrognathia, Brachycephaly, Short nose, Hypertelorism, Wide nasal bridge, Clinoda... OMIM:618577
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Micrognathia, Meckel diverticulum, Chorioretinal coloboma, Abnormal ce... ORPHA:163961
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Malar flattening, Low-set ears, Small epiphyses, Anterior rib cupping, Depressed nasal bridge, Hi... OMIM:300232
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Progressive macrocephaly, Depressed nasal bridge, Megalencephaly, Microphthalmia, ... OMIM:602501
Joubert Syndrome 37
High palate, Microphthalmia, Postaxial polydactyly, Prominent metopic ridge, Wide nose, Hypertelo... OMIM:619185
Ring Chromosome 10 Syndrome
Large earlobe, Micrognathia, Aganglionic megacolon, Pectus excavatum, Microphthalmia, Tapered fin... ORPHA:1438
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Micrognathia, Brachycephaly, Trigonocephaly, Bifid nose, Bulbous nose, Prominent metopic ridge, B... OMIM:275595
Li-Ghorbani-Weisz-Hubshman Syndrome
Depressed nasal bridge, Hypotelorism, Prominent nasal bridge, Low-set ears, Clinodactyly of the 5... OMIM:618974
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Malar flattening, Hydrocephalus, Turricephaly, Cerebral atrophy, Anteverted nares, Lo... ORPHA:171839
Mosaic Variegated Aneuploidy Syndrome 2
Round ear, Micrognathia, Depressed nasal bridge, Duodenal atresia, Rhizomelia, Short nose, Cranio... OMIM:614114
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Malar prominence, Micrognathia, Convex nasal ridge, Pectus excavatum, Abnormal clavicle morpholog... ORPHA:2522
Spondylosis, Cervical
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
3-Hydroxyisobutyric Aciduria
Micrognathia, Intrauterine growth retardation, Hypogonadotropic hypogonadism, Triangular face, Ap... ORPHA:939
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Chronic otitis media, Abnormal dental enamel morphology, ... ORPHA:1452
Lateral Meningocele Syndrome
Malar flattening, Low-set ears, Umbilical hernia, Meningocele, Conductive hearing impairment, Mic... OMIM:130720
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Frontal bossing, Low-set ears, Hypotelorism, Microcephaly OMIM:618718
Craniofrontonasal Dysplasia
Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly, Camptodactyl... ORPHA:1520
Coffin-Siris Syndrome 12
Ridged cranial sutures, Noncommunicating hydrocephalus, Slender finger, Low hanging columella, Hi... OMIM:619325
Basal Cell Nevus Syndrome
Cleft palate, Abnormal sternum morphology, Short ribs, Iris coloboma, Hydrocephalus, Short 4th me... OMIM:109400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Mental Retardation, Autosomal Recessive 5
Underdeveloped nasal alae, Prominent nose, Hypotelorism, Hypertelorism, Wide nasal bridge, Promin... OMIM:611091
Hartsfield Syndrome
Cleft palate, Depressed nasal bridge, Lobar holoprosencephaly, Microphthalmia, Aplasia/Hypoplasia... ORPHA:2117
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Craniosynostosis, Low-set, posteriorly ro... ORPHA:1528
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... ORPHA:2182
Craniofacial Microsomia
Conductive hearing impairment, Micrognathia, Cleft palate, Microphthalmia, Hemivertebrae, Block v... OMIM:164210
Sprengel Deformity
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Spina bifida occulta... OMIM:184400
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Depressed nasal bridge, Cleft palate, Abnor... ORPHA:2635
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Protruding ear, Cleft palate, Hypotelorism, Hypertelorism, Kyphosis, Cerebellar ver... OMIM:619123
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short nose, Hearing impairment, Bulbous nose, Cerebral atrophy, Camptodactyly, Low-set ears, Prot... OMIM:309590
Pycnodysostosis
Carious teeth, Spondylolysis, Micrognathia, Delayed eruption of permanent teeth, Prominent nose, ... OMIM:265800
Skin Creases, Congenital Symmetric Circumferential, 1
Dandy-Walker malformation, Micrognathia, Cleft palate, Hypoplastic nipples, Depressed nasal bridg... OMIM:156610
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Sandestig-Stefanova Syndrome
Convex nasal ridge, High palate, Microphthalmia, Rocker bottom foot, Angulated antihelix, Trigono... OMIM:618804
Gorlin Syndrome
Carious teeth, Vertebral fusion, Vertebral wedging, Hemivertebrae, Mandibular prognathia, Brachyc... ORPHA:377
Prader-Willi Syndrome Due To Translocation
Carious teeth, Cleft palate, Short nose, Anterior pituitary hypoplasia, Anteverted nares, Deeply ... ORPHA:177907
Weyers Acrofacial Dysostosis
Hypotelorism, Prominent antihelix, Postaxial foot polydactyly, Postaxial hand polydactyly, Short ... OMIM:193530
Meckel Syndrome, Type 1
Cleft palate, Iris coloboma, Foot polydactyly, Adrenal hypoplasia, Syndactyly, Hydrocephalus, Cer... OMIM:249000
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Convex nasal ridge, Brachycephaly, Abnormal sacrum morphology, Abn... ORPHA:93262
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Brachycephaly, Mandibular prognathia, Velopharyngeal... OMIM:182290
2Q24 Microdeletion Syndrome
Toe syndactyly, Cleft palate, Microphthalmia, Long fingers, Hypertelorism, Low-set, posteriorly r... ORPHA:1617
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Depressed nasal bridge, Diaphyseal thickening, Wide nasal bridge, ... ORPHA:1513
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Micrognathia, Cleft palate, Depressed nasal bridge, Hemivertebrae, Bra... OMIM:220210
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Chromosome 3Pter-P25 Deletion Syndrome
Hearing impairment, Low hanging columella, Macular hypoplasia, Anteverted nares, Low-set ears, Mi... OMIM:613792
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Charge Syndrome
Cleft palate, Overfolded helix, Delayed eruption of teeth, Hearing impairment, Iris coloboma, Apl... ORPHA:138
Cousin Syndrome
2-3 toe syndactyly, Cleft palate, Prominent protruding coccyx, Microglossia, Hydrocephalus, Campt... OMIM:260660
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Microcephaly-Micromelia Syndrome
Micrognathia, Convex nasal ridge, Cleft palate, Microphthalmia, Oligodactyly, Humeroradial synost... OMIM:251230
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Microphthalmia, Syndromic 6
Short middle phalanx of finger, Cleft palate, Microglossia, Abnormality of the hypothalamus-pitui... OMIM:607932
Lissencephaly, X-Linked, 1
Death in infancy, Pachygyria, Postnatal growth retardation, Agyria, Gray matter heterotopia, Liss... OMIM:300067
3P25.3 Microdeletion Syndrome
Pyloric stenosis, Cleft palate, Congenital pseudoarthrosis of the clavicle, Proximal placement of... ORPHA:435638
Microphthalmia, Syndromic 13
Microphthalmia, Anteverted ears, Kyphoscoliosis, Abnormality of the pinna, Coloboma, Microcephaly OMIM:300915
Kennerknecht Syndrome
Toe syndactyly, Convex nasal ridge, High palate, Hypotelorism, Abnormality of the pinna, Toe clin... OMIM:600908
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Microphthalmia, Brachycephaly, Prominent nasal bridge, Deeply set eye... OMIM:615663
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Mandibular prognathia, Abnormal form of the vert... ORPHA:2790
Marden-Walker Syndrome
Pyloric stenosis, Cleft palate, Abnormal sternum morphology, Cerebellar hypoplasia, Camptodactyly... OMIM:248700
2Q23.1 Microduplication Syndrome
Prominent nasal tip, Prominent nose, Hypotelorism, Sandal gap, Abnormality of the outer ear, Bulb... ORPHA:313947
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Abnormal auditory evoked potentials, Brachycephaly, Rieger a... OMIM:109120
Microphthalmia With Brain And Digit Anomalies
High palate, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Abnormality of the hypothalamu... ORPHA:139471
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Robinow Syndrome, Autosomal Dominant 2
Short nose, Hearing impairment, Anteverted nares, Umbilical hernia, Conductive hearing impairment... OMIM:616331
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Hartsfield Syndrome
Cleft palate, Diabetes insipidus, Lobar holoprosencephaly, Wide nose, Craniosynostosis, Hypotelor... OMIM:615465
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Cleft palate, Short thorax, Hearing impairment, Short long bone, Microretrognathia... OMIM:618363
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Temple Syndrome
Micrognathia, Cleft palate, Depressed nasal bridge, High palate, Maturity-onset diabetes of the y... OMIM:616222
Mmep Syndrome
Microphthalmia, Triphalangeal thumb, Mandibular prognathia, Cryptorchidism, Microcephaly, Split foot ORPHA:3434
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Low-set ears, Hypoplasia of the corpus callosum, Hypotelorism, Microcephaly ORPHA:477673
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Thickened ribs, Depressed nasal bridge, Mandibula... OMIM:122860
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Absent nasal bridge, Long nose, Chronic otitis media, Short nose, Abnormality of ... ORPHA:261211
Femoral-Facial Syndrome
Cleft palate, Short nose, Aplasia/Hypoplasia of the corpus callosum, Abnormality of pelvic girdle... ORPHA:1988
Mosaic Trisomy 8
Cleft palate, Hearing impairment, Camptodactyly of finger, Anteverted nares, Protruding ear, Vert... ORPHA:96061
Chromosome 13Q33-Q34 Deletion Syndrome
Pyloric stenosis, Delayed eruption of teeth, Hearing impairment, Low hanging columella, Camptodac... OMIM:619148
Microphthalmia With Limb Anomalies
Arrhinencephaly, Cleft palate, Abnormal form of the vertebral bodies, Finger syndactyly, Hypoplas... ORPHA:1106
Martsolf Syndrome 1
Slender ulna, Short toe, Hypoplasia of the maxilla, Short phalanx of finger, Micrognathia, High p... OMIM:212720
Chromosome 16Q22 Deletion Syndrome
Micrognathia, High palate, Depressed nasal bridge, Hypertelorism, Posteriorly rotated ears, Wormi... OMIM:614541
Koolen-De Vries Syndrome
Pyloric stenosis, Cleft palate, Anteverted ears, Overfolded helix, Slender finger, Bulbous nose, ... OMIM:610443
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Convex nasal ridge, Cleft palate, Brachycephaly, Webbed neck, Short nose, Malar fla... ORPHA:2145
Monosomy 13Q14
Micrognathia, Microphthalmia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Trigonocephaly,... ORPHA:1587
Distal 22Q11.2 Microduplication Syndrome
Bulbous nose, Hydrocephalus, Camptodactyly of finger, Low posterior hairline, Low-set ears, Protr... ORPHA:261337
Fraser Syndrome 1
Cutaneous finger syndactyly, Cleft palate, Aplasia/Hypoplasia of the thumb, Midline nasal groove,... OMIM:219000
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Cleft palate, Abnormality of the hypothalamus-pitu... ORPHA:251014
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Hallermann-Streiff Syndrome
Malar flattening, Iris coloboma, Low-set ears, Underdeveloped nasal alae, Micrognathia, Narrow no... OMIM:234100
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Microphthalmia, Septo-optic dysplasia, Missing ribs, Anal atresia, Aplasia/Hypoplas... ORPHA:3301
Cerebrooculonasal Syndrome
High palate, Brachycephaly, Anophthalmia, Hypertelorism, Macrotia, Low-set, posteriorly rotated e... ORPHA:66625
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Cole-Carpenter Syndrome 2
Pectus excavatum, High palate, Thin ribs, Hypertelorism, Platyspondyly, Wormian bones, Kyphosis, ... OMIM:616294
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Asymmetry of the thorax, Delayed eruption of teeth, Delayed cranial suture closure,... ORPHA:2780
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Trichothiodystrophy
Carious teeth, Partial agenesis of the corpus callosum, High, narrow palate, Protruding ear, Cran... ORPHA:33364
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Micrognathia, Broad nasal tip, Depressed nasal bridge, High palate, Chronic otitis media, Promine... ORPHA:480907
Frontorhiny
Cleft palate, Microphthalmia, Diabetes insipidus, Hypoplastic frontal sinuses, Hypertelorism, Low... ORPHA:391474
Cole-Carpenter Syndrome
Communicating hydrocephalus, Micrognathia, Bowing of the long bones, Abnormal form of the vertebr... ORPHA:2050
Focal Dermal Hypoplasia
Cleft palate, Hypoplastic nipples, Short metatarsal, Midclavicular hypoplasia, Short ribs, Delaye... OMIM:305600
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Congenital Disorder Of Glycosylation, Type Iig
Cleft palate, Hearing impairment, Camptodactyly, Cerebral atrophy, Anteverted nares, Vertebral se... OMIM:611209
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Microcephaly ORPHA:2435
Pancreatic Agenesis-Holoprosencephaly Syndrome
Aplasia/Hypoplasia of the phalanges of the thumb, High palate, Holoprosencephaly, Hypoplasia of t... ORPHA:556955
Branchiooculofacial Syndrome
Pyloric stenosis, Short nasal septum, Cleft palate, Agenesis of cerebellar vermis, Retinal colobo... OMIM:113620
Monosomy 9P
Abnormality of the vertebral column, Cleft palate, Short nose, Malar flattening, Proximal placeme... ORPHA:261112
Premature Aging Syndrome, Penttinen Type
Micrognathia, Narrow nose, Midface retrusion, Wormian bones, Delayed eruption of teeth, Prominent... OMIM:601812
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Posterior rib fusion, Missing ribs, Supernu... OMIM:122600
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Microphthalmia, Wide nose, Abnormality of cartilage of external ear, Hypertelorism, Low... ORPHA:2399
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Micrognathia, High palate, Pectus excavatum, Webbed neck, Hypoplas... ORPHA:1131
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Microphthalmia, Hypogonadotropic hypogonadism, Abnormality of the cervical spine, K... ORPHA:48431
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Micrognathia, Underdeveloped nasal alae, High palate, Wide nasal b... OMIM:248910
Peroxisome Biogenesis Disorder 13A (Zellweger)
Flat occiput, Abnormality of neuronal migration, Micrognathia, Large fontanelles, Delayed closure... OMIM:614887
Congenital Disorder Of Glycosylation, Type Iy
Micrognathia, Macrotia, Clinodactyly, Deeply set eye, Hypoplasia of the corpus callosum, Scoliosi... OMIM:300934
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Cebalid Syndrome
Plagiocephaly, Depressed nasal ridge, Depressed nasal bridge, Polyphagia, Brachycephaly, Platyste... OMIM:618774
10Q22.3Q23.3 Microdeletion Syndrome
Depressed nasal bridge, Curved middle phalanx of the 4th toe, Hypotelorism, Hypertelorism, Arachn... ORPHA:276413
Recombinant Chromosome 8 Syndrome
Micrognathia, Pectus excavatum, Depressed nasal bridge, Midface retrusion, Brachycephaly, Low pos... OMIM:179613
Stevenson-Carey Syndrome
Underdeveloped nasal alae, Prominent nasal tip, Coloboma, Microphthalmia, Brachycephaly, Posterio... OMIM:611961
Diabetic Embryopathy
Micrognathia, Cleft palate, Abnormal sacrum morphology, Abnormality of the neck, Low-set, posteri... ORPHA:1926
Craniometadiaphyseal Dysplasia
Carious teeth, High palate, Genu varum, Megalencephaly, Broad long bones, Mandibular prognathia, ... OMIM:269300
Dysostosis, Stanescu Type
Carious teeth, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Bowing of the long b... ORPHA:1798
Microphthalmia, Lenz Type
Delayed eruption of teeth, Hearing impairment, Finger syndactyly, Complete duplication of thumb p... ORPHA:568
Craniosynostosis 6
Plagiocephaly, Dandy-Walker malformation, Brachycephaly, Craniosynostosis, Hypertelorism, Abnorma... OMIM:616602
Congenital Disorder Of Glycosylation, Type Iif
Flat occiput, Webbed neck, Hypotelorism, Deeply set eye, Clinodactyly, Microcephaly OMIM:603585
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Prominent nose, Long nose, Mandibular prognathia, Hypotelorism, Macrotia, Frontal bossing, Cerebe... OMIM:300486
Distal Monosomy 7Q36
Micrognathia, Cleft palate, Pectus excavatum, Holoprosencephaly, Symphalangism affecting the phal... ORPHA:1636
Raine Syndrome
Brachyturricephaly, Cleft palate, Short nose, Malar flattening, Hydrocephalus, Long hallux, Low-s... OMIM:259775
Crouzon Disease
Conductive hearing impairment, Convex nasal ridge, Midface retrusion, Brachycephaly, Abnormal sac... ORPHA:207
Isolated Trigonocephaly
Trigonocephaly, Hypotelorism, Wide nasal bridge ORPHA:3366
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Large fleshy ears, Short nose, Short ribs, Cerebellar hypoplasia, Anteverted nares,... OMIM:616897
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Cleft palate, Holoprosencepha... ORPHA:250999
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Prominent nasal bridge, Basal ganglia calcification, Hypoplasia of the maxilla,... OMIM:608432
Rhizomelic Chondrodysplasia Punctata, Type 1
Micrognathia, Cleft palate, Depressed nasal bridge, Coronal cleft vertebrae, Epiphyseal stippling... OMIM:215100
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Pectus excavatum, Protruding ear, Cleft palate, Microphthalmia, Retinal coloboma, Short nose, Hyp... OMIM:618571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Lissencephaly, Sensorineural hearing impairment, Abnormally large globe, Progress... OMIM:615249
Pentasomy X
Plagiocephaly, Micrognathia, Hypertelorism, Small hand, Low-set, posteriorly rotated ears, Wide n... ORPHA:11
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Increased intervertebral space, Cleft palate, Short greater sciat... OMIM:256050
Triploidy
Meningocele, Micrognathia, Cleft palate, Holoprosencephaly, Macroglossia, Hypertelorism, Low-set,... ORPHA:3376
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Large posterior fontanelle, Decreased calvarial ossification, Cleft palate, Absent nasal bridge, ... OMIM:617925
Jacobsen Syndrome
Pyloric stenosis, Short nose, Iris coloboma, Macular hypoplasia, Hydrocephalus, Anteverted nares,... OMIM:147791
Ring Chromosome 7 Syndrome
Cleft palate, Short nose, Malar flattening, Slender finger, 3-4 toe syndactyly, Anteverted nares,... ORPHA:1449
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly OMIM:610680
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Arrhinencephaly, Phocomelia, Aplastic clavicle, Abnormality of the radius, Abnormal... ORPHA:2538
Moebius Syndrome
Lower limb undergrowth, Syndactyly, Camptodactyly, Abnormality of pelvic girdle bone morphology, ... OMIM:157900
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Cleft palate, Abnormal form of the vertebral bodies, Sho... ORPHA:2311
Cornelia De Lange Syndrome 5
Cleft palate, Proximal placement of thumb, Hearing impairment, Anteverted nares, Deeply set eye, ... OMIM:300882
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Cleft palate, Hand oligodactyly, High palate, Proximal radial head dislocation, Hyp... OMIM:602418
Trisomy 8P
Cleft palate, Short nose, Clinodactyly of the 5th toe, Short 1st metacarpal, Hydrocephalus, Antev... ORPHA:264450
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Cerebral atrophy, Coloboma, Agenesis of corpus callosum, Microcephaly OMIM:274270
Ck Syndrome
Micrognathia, High palate, Malar flattening, Posteriorly rotated ears, Prominent nasal bridge, Ky... OMIM:300831
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Cleft palate, 1-2 toe syndactyly, Overfolded helix, Short nose, Broad hallux, Camptodactyly, Ante... OMIM:301044
Isolated Exencephaly
Posterior pituitary agenesis, Holoprosencephaly, Anterior pituitary hypoplasia, Hypoplasia of the... ORPHA:563612
Microcephalic Primordial Dwarfism, Dauber Type
Prominent nose, Limb undergrowth, Hypotelorism, Short middle phalanx of the 5th finger, Bilateral... ORPHA:319675
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cleft palate, Ectopic anus, Abnormal sacrum morphology, Abno... ORPHA:2345
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morphology, Hypoplasia of the pons... ORPHA:280195
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Large earlobe, Microphthalmia, Brachycephaly, Mandibular prognathia, Tapered finger, Hyperteloris... ORPHA:1236
Lujan-Fryns Syndrome
Macroorchidism, Micrognathia, High palate, Pectus excavatum, Brachycephaly, Prominent nasal bridg... ORPHA:776
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Cervical platyspondyly, Colpocephaly, Hypertelorism, Broad neck, Polymicrogyria, C... OMIM:618731
Mohr Syndrome
Cleft palate, Metaphyseal irregularity, Malar flattening, Syndactyly, Hydrocephalus, Hypoplasia o... OMIM:252100
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Heart And Brain Malformation Syndrome
Dandy-Walker malformation, High, narrow palate, Depressed nasal bridge, Microphthalmia, Global br... OMIM:616920
Distal Monosomy 13Q
Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly ORPHA:1590
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Charge Syndrome
Arrhinencephaly, Absent tibia, Cleft palate, Duodenal atresia, Retinal coloboma, Malar flattening... OMIM:214800
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Achondrogenesis Type 1B
Micrognathia, Short nose, Short thorax, Cystic hygroma, Frontal bossing, Thickened nuchal skin fo... ORPHA:93298
Distal Monosomy 10P
Micrognathia, Convex nasal ridge, Cleft palate, Ectopic anus, Webbed neck, Polycystic ovaries, Ma... ORPHA:1580
6Q25 Microdeletion Syndrome
Plagiocephaly, Micrognathia, Cleft palate, High palate, Rocker bottom foot, Hypertelorism, Low-se... ORPHA:251056
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Infertility, Primary amenorrhea, Azoospermia OMIM:229070
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Cleft palate, Depressed nasal bridge, Microphthalmia, 2-3 toe syndactyly, Brachycep... ORPHA:404440
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Pectus excavatum, Brachycephaly, Limb undergrowth, Kyphoscoliosis, Thin calvarium, Brachydactyly,... OMIM:122900
Coffin-Siris Syndrome 1
Duodenal ulcer, Cleft palate, Delayed eruption of teeth, Hearing impairment, Intussusception, Low... OMIM:135900
Apert Syndrome
Ovarian neoplasm, Brachyturricephaly, Cleft palate, Cloverleaf skull, Aplasia/Hypoplasia of the t... ORPHA:87
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Short ribs, Cerebellar hypoplasia, Microretrognathia, Unicoronal synostosis, Flat a... OMIM:616300
Pycnodysostosis
Carious teeth, Decreased serum insulin-like growth factor 1, Midface retrusion, Obtuse angle of m... ORPHA:763
Mosaic Trisomy 1
Small anterior fontanelle, Cleft palate, Deviation of the 5th toe, Broad toe, Complete duplicatio... ORPHA:1692
Mend Syndrome
2-3 toe syndactyly, Abnormal auditory evoked potentials, Cleft palate, Hydrocephalus, Broad hallu... ORPHA:401973
Meckel Syndrome
Cleft palate, Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Hydroc... ORPHA:564
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, High, narrow palate, Pectus excavatum, Mandibular prognathia, Anophthalmia, Anirid... ORPHA:1101
Oculogastrointestinal Neurodevelopmental Syndrome
Simple ear, Hemivertebrae, Anal atresia, Low hanging columella, Sacral dimple, Unilateral microph... OMIM:619318
Fibrochondrogenesis 1
Broad ischia, Cleft palate, Short nose, Malar flattening, Short ribs, Camptodactyly, Anteverted n... OMIM:228520
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Fibular Hemimelia
Abnormal lower limb bone morphology, Hypoplastic acetabulae, Finger syndactyly, Hip subluxation, ... ORPHA:93323
17Q12 Microduplication Syndrome
Toe syndactyly, Cleft palate, Microphthalmia, Abnormal vertebral morphology, Finger syndactyly, T... ORPHA:261272
49,Xyyyy Syndrome
Micrognathia, Radioulnar synostosis, Trigonocephaly, Finger clinodactyly, Hypertelorism, Low-set,... ORPHA:99330
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia ... ORPHA:1908
Fraser Syndrome
Midline nasal groove, Finger syndactyly, Atresia of the external auditory canal, Vertebral segmen... ORPHA:2052
Galloway-Mowat Syndrome 9
Hypotelorism, Macrotia, Hypertelorism, Thin corpus callosum, Hiatus hernia, Low-set ears, Seconda... OMIM:619603
Cockayne Syndrome Type 1
Hypoplasia of the primary teeth, Mandibular prognathia, Anophthalmia, Macrotia, Absent brainstem ... ORPHA:90321
Osteogenesis Imperfecta, Type Xii
Progressive hearing impairment, Brachyturricephaly, Micrognathia, High palate, Depressed nasal br... OMIM:613849
Chromosome 10Q26 Deletion Syndrome
Low posterior hairline, Low-set ears, Protruding ear, Prominent nose, Micrognathia, Toe syndactyl... OMIM:609625
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Micro Syndrome
Micrognathia, High palate, Microphthalmia, Retinal coloboma, Short nose, Macrotia, Low-set, poste... ORPHA:2510
Melnick-Needles Syndrome
Short thorax, Delayed eruption of teeth, Hearing impairment, Anisospondyly, Delayed cranial sutur... ORPHA:2484
Whistling Face Syndrome, Recessive Form
Underdeveloped nasal alae, Micrognathia, High palate, Shoulder flexion contracture, Ulnar deviati... OMIM:277720
Shprintzen-Goldberg Craniosynostosis Syndrome
Brachyturricephaly, Hydrocephalus, Camptodactyly, Anteverted nares, Hypoplasia of the maxilla, Um... OMIM:182212
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Cleft palate, Short nose, Malar flattening, Multiple small bowel atresias, Slender finger, Turric... OMIM:218649
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hypogonadotropic hypogonadism, Hypertelorism, Abnormality of the pinna, Promine... ORPHA:3068
Renpenning Syndrome
Round ear, Prominent nose, Cleft palate, High, narrow palate, Pectus excavatum, Mandibular progna... ORPHA:3242
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Micrognathia, Underdeveloped nasal alae, Cleft palate, Wide nose, ... ORPHA:398156
Trisomy 9P
Brachycephaly, Hypertelorism, Macrotia, Kyphosis, Short neck, Clinodactyly of the 5th finger, Sac... ORPHA:236
Aicardi Syndrome
Cleft palate, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Block vertebrae, Protruding e... ORPHA:50
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Micrognathia, Convex nasal ridge, Macrotia, Hypogonadism, Patellar hypoplasia, Protruding ear, Sc... OMIM:251240
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Micrognathia, Microphthalmia, Chorioretinal coloboma, Hypertelorism, Bi... ORPHA:268249
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Dandy-Walker malformation, Bicoronal synostosis, Brachycephaly, Delayed closure of ... OMIM:618736
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Hearing impairment, Elevated c... OMIM:101800
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormality of the vertebral column, Conductive hearing impairment, Micrognathia, Broad nasal tip... OMIM:239800
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Maternal Phenylketonuria
Micrognathia, High palate, Bifid distal phalanx of the thumb, Hypotelorism, Wide nasal bridge, Es... ORPHA:2209
Juberg-Hayward Syndrome
Dandy-Walker malformation, Toe syndactyly, Abnormal vertebral morphology, Hammertoe, Wide nose, H... ORPHA:2319
Fetal Alcohol Syndrome
Micrognathia, Cleft palate, Microphthalmia, Short nose, Low-set, posteriorly rotated ears, Anteve... ORPHA:1915
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Polymicrogyria, Agyria, Cerebellar hypoplasia, Remnants of the hyaloid vascular sy... OMIM:614643
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Coffin-Siris Syndrome 6
Plagiocephaly, Conductive hearing impairment, Micrognathia, Broad nasal tip, Depressed nasal brid... OMIM:617808
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Mandibular prognathia, Short columella, Short nose... ORPHA:1248
Joubert Syndrome 14
Dandy-Walker malformation, Microphthalmia, Postaxial polydactyly, Hypertelorism, Malar flattening... OMIM:614424
Cooper-Jabs Syndrome
Conductive hearing impairment, Brachycephaly, Anteriorly placed anus, Low-set, posteriorly rotate... ORPHA:1488
Lambotte Syndrome
Intrauterine growth retardation, Semilobar holoprosencephaly, Microcephaly OMIM:245552
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly, Macrotia, Microcephaly, Narrow palate, Proptosis, Abnormal cerebral white matter m... OMIM:617481
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Absent septum pellucidum OMIM:601357
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Hypertelorism, Anal atresia, Hearing impairment, Iris col... ORPHA:195
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Vici Syndrome
High palate, Hypoplasia of the pons, Hypotelorism, Hypertelorism, Sensorineural hearing impairmen... ORPHA:1493
Malan Overgrowth Syndrome
Plagiocephaly, Pectus excavatum, High palate, Depressed nasal bridge, Optic disc hypoplasia, Low ... ORPHA:420179
Microphthalmia, Syndromic 2
Adrenal insufficiency, 2-3 toe syndactyly, Anteverted ears, Asymmetry of the ears, Delayed erupti... OMIM:300166
Ring Chromosome 21 Syndrome
Holoprosencephaly, Microcephaly ORPHA:1445
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Abnormal intestine morphology, Abnormal form of the vertebral bodies, Missing ribs,... ORPHA:1834
Myopathy, Congenital, Bailey-Bloch
Conductive hearing impairment, Micrognathia, Cleft palate, High palate, Midface retrusion, Brachy... OMIM:255995
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Missing ribs, Block vertebr... OMIM:613686
Rere-Related Neurodevelopmental Syndrome
Micrognathia, Microphthalmia, Chorioretinal coloboma, Low-set, posteriorly rotated ears, Hearing ... ORPHA:494344
Isolated Cleft Lip
Conductive hearing impairment, Supernumerary maxillary incisor, Chronic otitis media, Velopharyng... ORPHA:199302
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, 2-3 toe syndactyly, Cleft palate, Finger syndactyly, Cerebral atrophy, A... ORPHA:464738
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Amyotrophy, Hereditary Neuralgic
Cleft palate, Depressed nasal bridge, Hypotelorism, Low-set ears, Deeply set eye, Long nasal bridge OMIM:162100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cleft palate, Hearing impairment, Coloboma, Vertebral segmentation defect, Plagiocephaly, Underde... ORPHA:453499
X-Linked Intellectual Disability, Najm Type
Micrognathia, Chorioretinal coloboma, Optic nerve hypoplasia, Hypertelorism, Macrotia, Wide nasal... ORPHA:163937
Pallister-Hall Syndrome
Cleft palate, Short nose, Microglossia, Distal shortening of limbs, Adrenal hypoplasia, Syndactyl... OMIM:146510
Treacher-Collins Syndrome
Abnormality of the vertebral column, Cleft palate, Thyroid hypoplasia, Hypoplasia of the thymus, ... ORPHA:861
Monosomy 9Q22.3
Abnormality of the vertebral column, Pectus excavatum, Thickened ears, Microphthalmia, Metopic sy... ORPHA:77301
White-Kernohan Syndrome
Underdeveloped nasal alae, Dysplastic corpus callosum, Simple ear, Midface retrusion, Depressed n... OMIM:619426
Seckel Syndrome 1
Small anterior fontanelle, Cleft palate, Abnormally large globe, 11 pairs of ribs, Low-set ears, ... OMIM:210600
Hermansky-Pudlak Syndrome 10
Hypotelorism, Macrotia, Retrognathia, Cerebral atrophy, Low-set ears, Microcephaly OMIM:617050
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Micrognathia, Convex nasal ridge, Brachycephaly, Metaphyseal widening,... OMIM:263210
Kbg Syndrome
Underdeveloped nasal alae, Vertebral fusion, Hypertelorism, Macrotia, Radial deviation of finger,... OMIM:148050
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Micrognathia, High palate, Pectus carinatum, Hypertelorism, Malar flattening, Low-set, posteriorl... ORPHA:98791
Aicardi Syndrome
Dilated third ventricle, Cleft palate, Proximal placement of thumb, Polymicrogyria, Block vertebr... OMIM:304050
Mcdonough Syndrome
Underdeveloped nasal alae, Micrognathia, Prominent nose, Pectus excavatum, Mandibular prognathia,... ORPHA:2471
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Microphthalmia, Hypoplasia of the pons, Lissencephaly, Pachygyria, Hyp... OMIM:613153
Hydranencephaly
Stiff neck, Infantile sensorineural hearing impairment, Abnormal corpus striatum morphology, Atro... ORPHA:2177
Cerebrofaciothoracic Dysplasia
Cleft palate, Bifid ribs, Hemivertebrae, Brachycephaly, Wide nose, Short nose, Low-set, posterior... ORPHA:1394
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Subcortical band heterotopia, Pachygyria, Progressive microcephaly, Bulbous nose, Midface retrusi... OMIM:618737
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation