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Gene: Disp1 MGI:1916147

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

dispatched RND transporter family member 1

Synonyms:

DispA, 1190008H24Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Disp1 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 Disp1 (6 diseases)
Human diseases predicted to be associated with Disp1 (1136 diseases)

The table below shows human diseases associated to Disp1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Microform Holoprosencephaly	Orofacial cleft, Short nose, Cyclopia, Solitary median maxillary central incisor, Maternal diabet...	ORPHA:280200
Semilobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno...	ORPHA:220386
Alobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno...	ORPHA:93926
Lobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno...	ORPHA:93924
Septopreoptic Holoprosencephaly	Central diabetes insipidus, Anterior hypopituitarism, Ethmoidal encephalocele, Precocious puberty...	ORPHA:280195

The table below shows human diseases predicted to be associated to Disp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Holoprosencephaly 5	Orofacial cleft, Central diabetes insipidus, Semilobar holoprosencephaly, Hypotelorism, Alobar ho...	OMIM:609637
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Optic nerve hypoplasia, Hypopl...	OMIM:610829
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Cyclopia, Solitary median maxillary centra...	OMIM:147250
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentrat...	OMIM:613038
Developmental And Epileptic Encephalopathy 87	Widely spaced teeth, Hypotelorism, High palate, Wide mouth, Prominent nose, Bulbous nose, Hyperte...	OMIM:618916
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Short nose, Hypotelorism, Respiratory distress, High palate, Death in infancy, Mic...	OMIM:615042
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Short nose, Gingival fibromatosis, Respiratory distress, Anteverted nares, Gingival...	ORPHA:1832
Culler-Jones Syndrome	Hypotelorism, Diabetes insipidus, Anterior pituitary hypoplasia, Cleft upper lip, Cleft palate, H...	OMIM:615849
Holoprosencephaly 11	Hypotelorism, Proptosis, Cleft palate, Holoprosencephaly, Cleft lip	OMIM:614226
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Hypotelorism, High palate, Bilateral cryptorchidism, Micrognathia, Broad nasal tip, P...	OMIM:613544
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Anterior pituitary hypoplasia, Bifid nasal tip, Thick nasal alae, Med...	ORPHA:1827
Holoprosencephaly 4	Semilobar holoprosencephaly, Hypotelorism, Median cleft palate, Depressed nasal tip, Absent nasal...	OMIM:142946
Holoprosencephaly 3	Abnormality of the nose, Central diabetes insipidus, Cyclopia, Solitary median maxillary central ...	OMIM:142945
Acalvaria	Hydrocephalus, Hypertelorism, Holoprosencephaly, Spina bifida	ORPHA:945
Cataract-Intellectual Disability-Hypogonadism Syndrome	Hypotelorism, Short philtrum, Tooth malposition, High palate, Furrowed tongue, Everted lower lip ...	ORPHA:1387
Ane Syndrome	Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo...	ORPHA:157954
Microform Holoprosencephaly	Orofacial cleft, Short nose, Cyclopia, Solitary median maxillary central incisor, Maternal diabet...	ORPHA:280200
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Hypotelorism, Anteverted nares, High palate, Glossoptosis, Micrognathia, Pierre-Robin...	OMIM:613604
Chromosome 1Q41-Q42 Deletion Syndrome	Widely spaced teeth, Hypotelorism, Short philtrum, Anteverted nares, High palate, Cleft upper lip...	OMIM:612530
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, Micrognathia, Cleft palate, Mic...	ORPHA:141152
Prader-Willi Syndrome Due To Translocation	Retrognathia, Proptosis, Everted lower lip vermilion, Bifid uvula, Wide mouth, Alveolar ridge ove...	ORPHA:177907
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Hypertelorism, Holoprosencephaly, Proptosis	ORPHA:2165
1Q41Q42 Microdeletion Syndrome	Hypotelorism, Underdeveloped nasal alae, Hypergonadotropic hypogonadism, Cleft palate, Broad nasa...	ORPHA:250999
Intellectual Developmental Disorder, Autosomal Recessive 13	Hypotelorism, Short philtrum, Cleft upper lip, Downturned corners of mouth, Smooth philtrum, Hype...	OMIM:613192
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Thin vermilion border, Hypotelorism, Short philtrum, Mandibular prognathia, Bilateral cleft lip, ...	OMIM:618622
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Holoprosencephaly 7	Solitary median maxillary central incisor, Bilateral cleft palate, Shallow orbits, Unilateral cle...	OMIM:610828
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Holoprosencephaly 2	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Proboscis, Anterior pitui...	OMIM:157170
Microhydranencephaly, X-Linked	Multiple joint contractures, Holoprosencephaly	OMIM:306990
Isolated Exencephaly	Maternal diabetes, Abnormal facial skeleton morphology, Anterior pituitary hypoplasia, Hypoplasia...	ORPHA:563612
Intellectual Developmental Disorder, Autosomal Dominant 74	Hypotelorism, Smooth philtrum, Prominent nose, Deeply set eye, Hypertelorism, Thin upper lip verm...	OMIM:620688
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Cyclopia, Respiratory distress, Abnormal cranial nerve morphology, Narrow mouth, Mandibular aplas...	ORPHA:990
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h...	ORPHA:231720
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hypoplastic philtrum, Wide mouth, Hypogonadism, Optic atrophy, Anteverted nares, Cryptorchidism, ...	OMIM:309580
Non-Distal Duplication 13Q	Thin vermilion border, Short nose, Hypotelorism, High palate, Abnormality of the dentition, Evert...	ORPHA:1702
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:95494
Microphthalmia/Coloboma 5	Holoprosencephaly, Chorioretinal coloboma, Iris coloboma	OMIM:611638
Hartsfield Syndrome	Encephalocele, Non-midline cleft of the upper lip, Lobar holoprosencephaly, Cleft palate, Hyperte...	ORPHA:2117
Tonne-Kalscheuer Syndrome	Widely spaced teeth, Hypotelorism, Narrow mouth, Decreased testicular size, Velopharyngeal insuff...	OMIM:300978
Pseudotrisomy 13 Syndrome	Cyclopia, Tricuspid atresia, Hypotelorism, Dextrocardia, Encephalocele, Hydrocephalus, Holoprosen...	OMIM:264480
Distal Monosomy 7Q36	Optic atrophy, Non-midline cleft of the upper lip, Cryptorchidism, Micrognathia, Cleft palate, Wi...	ORPHA:1636
Amyotrophy, Hereditary Neuralgic	Hypotelorism, Long nasal bridge, Narrow mouth, Brachial plexus neuropathy, Cleft palate, Deeply s...	OMIM:162100
Frontoocular Syndrome	Hypotelorism, Narrow philtrum, Narrow mouth, High palate, Proptosis, Micrognathia, Prominent nasa...	OMIM:605321
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon...	OMIM:618157
Distal Deletion 13Q	Iris coloboma, Anencephaly, Encephalocele, Holoprosencephaly, Hypertelorism, Abnormal cardiac sep...	ORPHA:1590
Trigonocephaly 1	Short nose, High, narrow palate, Hypotelorism, Meckel diverticulum, Long philtrum, Wide nasal bridge	OMIM:190440
Intellectual Disability And Myopathy Syndrome	Hypotelorism, Incisor macrodontia, Broad nasal tip, Dental malocclusion, Thin upper lip vermilion...	OMIM:619719
Agnathia-Otocephaly Complex	Wide nose, Respiratory distress, Narrow mouth, Mandibular aplasia, Micrognathia, Cleft palate, Ho...	OMIM:202650
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Optic atrophy, Hypotelorism, Short philtrum, Anteverted nares, Mandibular prognathia, Depressed n...	OMIM:618672
10Q22.3Q23.3 Microduplication Syndrome	Hypotelorism, Abnormality of the philtrum, Abnormality of the dentition, Microretrognathia, Deepl...	ORPHA:276422
Intellectual Developmental Disorder, Autosomal Recessive 5	Hypotelorism, Short philtrum, Thick upper lip vermilion, Prominent nasal bridge, Smooth philtrum,...	OMIM:611091
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Mandi...	ORPHA:1908
Filippi Syndrome	Optic atrophy, Thin vermilion border, Short philtrum, Low hanging columella, Serrated incisors, P...	OMIM:272440
Trigonocephaly With Short Stature And Developmental Delay	Hypotelorism, Broad alveolar ridges, High palate, Convex nasal ridge, Wide nasal bridge	OMIM:314320
2Q23.1 Microduplication Syndrome	Hypotelorism, Dental crowding, Prominent nasal tip, Abnormality of the dentition, Wide mouth, Pro...	ORPHA:313947
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Spinal cord compression	ORPHA:85168
Auriculocondylar Syndrome 2A	Short mandibular rami, Respiratory distress, Dental crowding, Mandibular condyle hypoplasia, Temp...	OMIM:614669
Atkin-Flaitz Syndrome	Anteverted nares, Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral in...	ORPHA:1193
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Broad secondary alveolar ridge, Hypotelorism, High palate, Convex nasal ridge, Wide nasal bridge	ORPHA:3369
Hadziselimovic Syndrome	Thick lower lip vermilion, Hypotelorism, Anteverted nares, High palate, Anal atresia, Prominent n...	OMIM:612946
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Coloboma, Ventricular septal defect, Holoprosencephaly	OMIM:601357
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Delayed puberty, Small pituitary gland, Hyposmia, High palate, Anosmia, Cleft lip, Cryptorchidism...	OMIM:612702
Webb-Dattani Syndrome	Retrognathia, Decreased response to growth hormone stimulation test, Diabetes insipidus, Pituitar...	OMIM:615926
Trisomy 18P	Thin vermilion border, High, narrow palate, Hypotelorism, Narrow mouth, Facial palsy, Bilateral c...	ORPHA:1715
Orofaciodigital Syndrome Ii	Hydrocephalus, Bifid nasal tip, High palate, Agenesis of central incisor, Hypoplasia of the maxil...	OMIM:252100
Cranioectodermal Dysplasia	Hypotelorism, Abnormal dental enamel morphology, Anteverted nares, Abnormality of the dentition, ...	ORPHA:1515
Xk Aprosencephaly Syndrome	Abnormal nostril morphology, Narrow mouth, Anal atresia, Hypotelorism	ORPHA:3469
Pituitary Hormone Deficiency, Combined, 3	Gonadotropin deficiency, Anterior pituitary hypoplasia, Decreased response to growth hormone stim...	OMIM:221750
Weyers Acrofacial Dysostosis	Solitary median maxillary central incisor, Hypotelorism, Conical tooth	OMIM:193530
Monosomy 18P	Short philtrum, Tooth malposition, Hypothyroidism, Carious teeth, Downturned corners of mouth, Cl...	ORPHA:1598
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A...	OMIM:620303
Chromosome 14Q11-Q22 Deletion Syndrome	Optic atrophy, Short nose, Elevated circulating thyroid-stimulating hormone concentration, Anteri...	OMIM:613457
Perching Syndrome	High palate, Depressed nasal bridge, Respiratory distress	OMIM:617055
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted ...	ORPHA:364577
6P22 Microdeletion Syndrome	Hydrocephalus, Abnormal palate morphology, Deeply set eye, Hypotelorism	ORPHA:251046
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin vermilion border, Short nose, Hypotelorism, Anteverted nares, Intestinal malrotation, Lobar ...	OMIM:614701
Weyers Ulnar Ray/Oligodactyly Syndrome	Solitary median maxillary central incisor, Hypotelorism, High palate, Cleft upper lip, Micrognath...	OMIM:602418
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Hydranencephaly	OMIM:617967
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Cryptorchidism, Hypertelorism, Bulbous nose, Agenesis of ...	OMIM:616788
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypotelorism, Hyposmia, Anosmia, Cleft upper lip, Cleft palate, Cryptorchidism, Hypogonadotropic ...	OMIM:244200
Chromosome 3Q13.31 Deletion Syndrome	Short philtrum, Alobar holoprosencephaly, High palate, Decreased testicular size, Cryptorchidism,...	OMIM:615433
Global Developmental Delay With Or Without Impaired Intellectual Development	Oligodontia, Bulbous nose, Hypotelorism, Thin upper lip vermilion	OMIM:618330
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Proptosis, Holoprosencephaly, Patent ductus arteriosus, Atrial sept...	ORPHA:93274
Li-Ghorbani-Weisz-Hubshman Syndrome	Hypotelorism, Downturned corners of mouth, Prominent nasal bridge, Thick vermilion border, Depres...	OMIM:618974
Septo-Optic Dysplasia Spectrum	Maternal diabetes, Esophageal atresia, Diabetes insipidus, Optic nerve hypoplasia, Anterior pitui...	ORPHA:3157
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Retrognathia, High, narrow palate, Hypotelorism, Short philtrum, Hydrocephalus, High palate, Micr...	OMIM:620156
Intellectual Developmental Disorder, Autosomal Dominant 7	Thick lower lip vermilion, Hypotelorism, Micrognathia, Smooth philtrum, Deeply set eye, Bulbous n...	OMIM:614104
Triploidy	Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Narrow mouth, Cryptorchidism, Int...	ORPHA:3376
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Optic atrophy, Short nose, Hypotelorism, Respiratory distress, High palate, Micrognathia, Dental ...	ORPHA:329178
Liang-Wang Syndrome	Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Hypertelorism, Wid...	OMIM:618729
Septooptic Dysplasia	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Anterior pituitary...	OMIM:182230
Isolated Growth Hormone Deficiency, Type Ii	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s...	OMIM:173100
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm...	ORPHA:83451
16P13.11 Microdeletion Syndrome	Cyclopia, Camptodactyly of finger, Holoprosencephaly, Atrial septal defect, Ventricular septal de...	ORPHA:261236
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	High palate, Wide nasal bridge, Depressed nasal bridge, Hypotelorism	OMIM:615760
Non-Syndromic Metopic Craniosynostosis	Hypotelorism, Wide nasal bridge	ORPHA:3366
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Hypoplastic philtrum, Precocious puberty, Intestinal malrotation, Hypertelorism, Volvulus, Crypto...	OMIM:616682
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer...	ORPHA:3352
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Elsahy-Waters Syndrome	Bifid nasal tip, Proptosis, Bifid uvula, Broad philtrum, Abnormality of the anus, Long philtrum, ...	OMIM:211380
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Camptodactyly of finger, Holoprosencephaly, Deeply set eye, Multiple joint contr...	ORPHA:2570
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Delayed puberty, Short nose, Hypotelorism, Short philtrum, Wide nose, Anteverted nares, Oligodont...	ORPHA:391408
Deeah Syndrome	Narrow palate, Retrognathia, Short nose, Decreased response to growth hormone stimulation test, D...	OMIM:619004
Microcephaly 29, Primary, Autosomal Recessive	Deeply set eye, Hypoplastic philtrum	OMIM:620047
Trisomy 18	Congenital diaphragmatic hernia, Cyclopia, Anencephaly, Spina bifida, Camptodactyly of finger, Ho...	ORPHA:3380
49,Xxxxy Syndrome	Wide nose, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, O...	ORPHA:96264
Lambotte Syndrome	Retrognathia, Semilobar holoprosencephaly, Narrow mouth, Convex nasal ridge, Hypertelorism	OMIM:245552
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cyclopia, Hypotelorism, Encephalocele, Hydrocephalus, Holoprosencephaly, Umbilical hernia, Abnorm...	ORPHA:2166
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Abnormal zygomatic bone morphology, Hypotelorism, Narrow nasal bridge, Mandibular prognathia, Uni...	ORPHA:2511
Intellectual Disability, Birk-Barel Type	High, narrow palate, Short philtrum, Narrow nasal bridge, Incisor macrodontia, Micrognathia, Broa...	ORPHA:166108
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Myopathy, Meningocele	ORPHA:588
Holoprosencephaly 14	Aqueductal stenosis, Cyclopia, Aortic valve atresia, Hydrocephalus, Alobar holoprosencephaly, Hol...	OMIM:619895
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Hypotelorism, High palate...	ORPHA:556955
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly	OMIM:300706
Trichothiodystrophy 8, Nonphotosensitive	Retrognathia, Hypotelorism, Prominent nose, Long philtrum, Thin upper lip vermilion	OMIM:619691
Acrootoocular Syndrome	Supernumerary tooth, Grayish enamel, High, narrow palate, Wide nasal base, Decreased response to ...	ORPHA:2980
Holoprosencephaly	Congenital diaphragmatic hernia, Cyclopia, Hypotelorism, Encephalocele, Hydrocephalus, Branchial ...	ORPHA:2162
Rubinstein-Taybi Syndrome 2	Narrow palate, Retrognathia, Increased overbite, Low hanging columella, High palate, Talon cusp, ...	OMIM:613684
Pde4D Haploinsufficiency Syndrome	Short nose, Elevated circulating parathyroid hormone level, Hypotelorism, Short philtrum, Abnorma...	ORPHA:439822
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Respiratory distress, Micrognathia, Hypertelorism, Deeply ...	ORPHA:261304
Hartsfield Syndrome	Semilobar holoprosencephaly, Hypotelorism, Wide nose, Diabetes insipidus, Alobar holoprosencephal...	OMIM:615465
Chromosome 5P13 Duplication Syndrome	Hypotelorism, Short philtrum, Low hanging columella, High palate, Proptosis, Downturned corners o...	OMIM:613174
Ritscher-Schinzel Syndrome 4	Narrow palate, Hypotelorism, Short philtrum, High palate, Proptosis, Hypertelorism, Wide mouth, T...	OMIM:619435
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, High palate, Gingival overgrowth, Hypoplastic philtrum	OMIM:618918
Richieri-Costa/Guion-Almeida Syndrome	Hypotelorism, Spina bifida occulta, Mandibular prognathia, Cleft upper lip, Cleft palate, Malar f...	OMIM:268850
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Anosmia, Decreased testicular size, Cleft palate, Cryptorchidism	OMIM:614880
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test	OMIM:618160
Cutis Laxa, Autosomal Recessive, Type Iib	Hypotelorism, Hydrocephalus, Narrow nasal ridge, High palate, Malar flattening, Long philtrum, De...	OMIM:612940
Ring Chromosome 21 Syndrome	Abnormal heart morphology, Holoprosencephaly	ORPHA:1445
Vissers-Bodmer Syndrome	Holoprosencephaly	OMIM:619033
Fg Syndrome Type 1	Small pituitary gland, Hydrocephalus, Dental crowding, Optic nerve hypoplasia, High palate, Choan...	ORPHA:93932
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	High palate, Hypotelorism	OMIM:616281
W Syndrome	Broad nasal tip, Upper lip pit, Submucous cleft hard palate, Hypertelorism, Broad uvula, Depresse...	ORPHA:2804
Schilbach-Rott Syndrome	Long nose, Hypotelorism, Narrow mouth, Micrognathia, Bifid uvula, Prominent nose, Submucous cleft...	OMIM:164220
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Anterior pituitary hypoplasia, Pituitary hypothyroidism, Hypertelorism	OMIM:619983
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Cyclopia, Alobar holoprosencephaly, Patent foramen ovale, Patent duc...	OMIM:301043
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum, Cryptorchi...	OMIM:615502
Congenital Disorder Of Glycosylation, Type Iy	Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth, Deeply set eye	OMIM:300934
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Delayed puberty, Small pituitary gland, Carious teeth, Hypodontia, Central adrenal insufficiency,...	OMIM:612079
Giacheti Syndrome	Hypotelorism	OMIM:612917
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Aganglionic meg...	ORPHA:2919
Lenz-Majewski Hyperostotic Dwarfism	Spina bifida occulta, Mandibular prognathia, Anterior pituitary hypoplasia, Abnormality of the de...	OMIM:151050
Endocrine-Cerebroosteodysplasia	Hypotelorism, Hydrocephalus, Adrenal hypoplasia, Median cleft palate, Depressed nasal tip, Thick ...	OMIM:612651
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Hypotelorism, Short philtrum, Low hanging columella, High palate, Micrognathia, Wide mouth, Thick...	OMIM:300986
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:177901
Multiple Pterygium-Malignant Hyperthermia Syndrome	Advanced eruption of teeth, Hypotelorism, Broad alveolar ridges, Exaggerated cupid's bow, Narrow ...	ORPHA:2215
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormality of thyroid physiology, Hypotelorism, Respiratory distress, Unilateral breast hypoplas...	OMIM:300968
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Ziegler-Huang Syndrome	Anterior pituitary hypoplasia, Cryptorchidism, Elevated circulating follicle stimulating hormone ...	OMIM:620501
Orofaciodigital Syndrome Type 2	Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno...	ORPHA:2751
Clark-Baraitser syndrome	Thick lower lip vermilion, Anteverted nares, Prominent median palatal raphe, Exaggerated median t...	OMIM:300602
Verheij Syndrome	Coloboma, Truncus arteriosus, Intrauterine growth retardation, Short neck, Ventricular septal def...	OMIM:615583
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98754
14Q22Q23 Microdeletion Syndrome	Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Proptosis, Abnormality of ...	ORPHA:264200
Trisomy 13	Optic atrophy, High, narrow palate, Hypotelorism, Abnormality of the dentition, Cleft palate, Mal...	ORPHA:3378
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:177904
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Hypotelorism, Holoprosencephaly, Tetralogy of Fallot, Overriding aorta, Iris coloboma	ORPHA:3186
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Hypotelorism	OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Muscular dystrophy, Transposition of the great arteries, Encephalocele, Hyd...	OMIM:253800
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Trisomy 1Q	Hypotelorism, Wide nose, Hydrocephalus, Narrow mouth, Anal atresia, Cleft palate, Microretrognath...	ORPHA:261344
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Hypotelorism, Diabetes insipidus, High palate, Pancreatic aplasia, L...	OMIM:618500
Alfadhel Syndrome	Thin vermilion border, Retrognathia, Short philtrum, Nasal flaring, Smooth philtrum, Bulbous nose...	OMIM:620655
Chitayat Syndrome	Respiratory distress, Anteverted nares, Proptosis, Thick vermilion border, Hypertelorism, Depress...	OMIM:617180
Harrod Syndrome	Long nose, Hypotelorism, Narrow mouth, High palate, Dental malocclusion, Cryptorchidism	ORPHA:2115
Chilton-Okur-Chung Neurodevelopmental Syndrome	Agenesis of incisor, Widely spaced teeth, Short philtrum, Low hanging columella, Anteverted nares...	OMIM:619841
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, High palate, Cleft palate, Abnormal motor nerve conduction ve...	OMIM:614399
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Long nose, Hypotelorism, Short philtrum, Mandibular prognathia, Prominent nose, Deeply set eye, C...	OMIM:300486
Polyendocrine-Polyneuropathy Syndrome	Anterior pituitary hypoplasia, Central hypothyroidism, Decreased testicular size, Abnormality of ...	OMIM:616113
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal palate morphology, Hypotelorism, Narrow nasal bridge, Mandibular prognathia, Micrognathi...	ORPHA:3082
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Delayed puberty, Hypotelorism, Oligodontia, Narrow mouth, Hypothyroidism, Downturned corners of m...	OMIM:616817
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus, Ventricular septal defect, Iris coloboma	ORPHA:77298
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Lowry-Maclean Syndrome	Retrognathia, High, narrow palate, Short nose, Hydrocephalus, Midgut malrotation, Proptosis, Talo...	ORPHA:2409
X-Linked Mandibulofacial Dysostosis	Pulmonic stenosis, Branchial anomaly, Webbed neck, Abnormal mitral valve morphology	ORPHA:1131
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Downturned corners of mouth, Hypotelorism	OMIM:618718
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Taurodontia, Optic atrophy, Anteverted nares, Carious teet...	ORPHA:2710
Vici Syndrome	Optic atrophy, Hypotelorism, High palate, Death in infancy, Depressed nasal tip, Hypertelorism	ORPHA:1493
Fetal Akinesia Deformation Sequence 2	High palate, Micrognathia, Cleft palate, Hypertelorism, Tented upper lip vermilion, Cryptorchidis...	OMIM:618388
Growth Hormone Deficiency, Isolated Partial	Decreased response to growth hormone stimulation test, Small pituitary gland	OMIM:615925
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Anteverted nares, Abnormality of primary teeth, Incisor macrodontia, High p...	ORPHA:438216
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, High, narrow palate, Widely spaced teeth, Short philtrum, Narrow nasal bridge, D...	ORPHA:466791
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short nose, Supernumerary nipple, Hypotelorism, Short philtrum, Anteverted nares, Cryptorchidism,...	OMIM:618454
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Arthrogryposis, Distal, Type 12	Dental crowding, Agenesis of maxillary incisor, High palate, Cryptorchidism, Hypertelorism, Hydro...	OMIM:620545
Pallister-Hall Syndrome	Hypothalamic hamartoma, Decreased circulating cortisol level, Decreased response to growth hormon...	OMIM:146510
Branchiogenic-Deafness Syndrome	Branchial fistula, Branchial cyst	OMIM:609166
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Spinal cord compression	OMIM:602475
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Ectopic pos...	ORPHA:67045
Odontochondrodysplasia	Retrognathia, Short nose, Delayed eruption of teeth, Respiratory distress, Death in infancy, Dent...	ORPHA:166272
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Micrognathia, Facial palsy, Respiratory distress	OMIM:300580
Pituitary Carcinoma	Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ...	ORPHA:300385
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Cr...	OMIM:614416
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Hypotelorism	ORPHA:1952
Trichothiodystrophy 3, Photosensitive	Hypotelorism, Meckel diverticulum, Bilateral cryptorchidism, Eclabion, Carious teeth, Pyloric ste...	OMIM:616395
Alobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno...	ORPHA:93926
Lobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno...	ORPHA:93924
Semilobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno...	ORPHA:220386
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Hypertelorism, Wid...	OMIM:618067
Chromosome 15Q11.2 Deletion Syndrome	Hypotelorism, Irregular dentition, Micrognathia, Cleft palate, Smooth philtrum, Bulbous nose, Hyp...	OMIM:615656
Alkuraya-Kucinskas Syndrome	Short nose, Hypotelorism, Hydrocephalus, Anteverted nares, High palate, Micrognathia, Hypertelori...	OMIM:617822
16P11.2P12.2 Microdeletion Syndrome	Orofacial cleft, Long nose, Short nose, Hypotelorism, Anteverted nares, Open mouth, Microretrogna...	ORPHA:261211
Non-Acquired Panhypopituitarism	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:90695
Holoprosencephaly 1	Cyclopia, Hypotelorism, Alobar holoprosencephaly, Ethmocephaly, Single ventricle	OMIM:236100
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly	ORPHA:2182
Marbach-Schaaf Neurodevelopmental Syndrome	Hypotelorism, Downturned corners of mouth, Broad nasal tip, Submucous cleft hard palate, Thin upp...	OMIM:619680
Zimmermann-Laband Syndrome	Supernumerary tooth, Wide nose, Gingival fibromatosis, Anterior open-bite malocclusion, High pala...	ORPHA:3473
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Optic atrophy, Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Respirat...	OMIM:619383
Distal Deletion 10Q	Short nose, Hypotelorism, Spina bifida occulta, Facial diplegia, High palate, Proptosis, Anal atr...	ORPHA:96148
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Thin vermilion border, Retrognath...	OMIM:601812
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Optic atrophy, Respiratory distress, Hydrocephalus, Anteverted nares, Narrow mouth...	ORPHA:1555
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypotelorism, Narrow mouth, High palate, Micrognathia, Malar flattening, Deeply set eye, Cryptorc...	OMIM:602471
Congenital Disorder Of Glycosylation, Type Iif	Deeply set eye, Hypotelorism, Short philtrum	OMIM:603585
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Retrognathia, Thin vermilion border, High, narrow palate, Short philtrum, Respirat...	ORPHA:2707
Orofaciodigital Syndrome Iii	Supernumerary tooth, Microdontia, Hypertelorism, Bifid uvula, Tongue nodules, Bulbous nose, Bifid...	OMIM:258850
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Pfeiffer Syndrome Type 2	Short nose, Aqueductal stenosis, Respiratory distress, Hydrocephalus, High palate, Choanal atresi...	ORPHA:93259
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Talon cusp, Microdontia, Cleft palate, Hypertelorism, Diastema, Deep philtrum	OMIM:605282
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Metacarpal synostosis, Brachydactyly	ORPHA:35099
Stuve-Wiedemann Syndrome 2	Stillbirth, Neonatal death, Death in adolescence, Respiratory distress	OMIM:619751
Proboscis Lateralis	Cyclopia, Proptosis, Holoprosencephaly, Chorioretinal coloboma, Optic disc coloboma, Patent ductu...	ORPHA:141099
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Decreased response to growth hormone stimulation test, Concave nasal ridge, Respiratory distress	OMIM:245590
Mitochondrial Pyruvate Carrier Deficiency	Long philtrum, Thin upper lip vermilion, Respiratory distress	OMIM:614741
Baller-Gerold Syndrome	Short nose, Hypotelorism, Narrow nasal bridge, Narrow mouth, High palate, Proptosis, Anal atresia...	ORPHA:1225
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Hypoglossia With Situs Inversus	Respiratory distress, Narrow mouth, High palate, Micrognathia, Microglossia, Hypodontia	OMIM:612776
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Small pituitary gland, Hydrocephalus, Hypertelorism, Optic disc pallor	OMIM:614195
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Hypotelorism	OMIM:619091
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Bifid uvula, ...	OMIM:617412
Temple-Baraitser Syndrome	Everted upper lip vermilion, Wide nose, Delayed eruption of teeth, Anteverted nares, Gingival ove...	ORPHA:420561
Glutathionuria	Hypotelorism	OMIM:231950
Short-Rib Thoracic Dysplasia 12	Anencephaly, Hydrocephalus, Hypoplastic nipples, Median cleft palate, Intestinal malrotation, Nat...	OMIM:269860
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ...	OMIM:616602
Immunodeficiency 95	Recurrent viral upper respiratory tract infections, Respiratory distress	OMIM:619773
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypotelorism, Narrow nasal ridge, Narrow mouth, Cryptorchidism, Hypertelorism	OMIM:219150
Craniosynostosis 2	Supernumerary tooth, Hypotelorism, Cleft soft palate	OMIM:604757
Ring Chromosome 7 Syndrome	Thin vermilion border, Short nose, Hypotelorism, Short philtrum, Anteverted nares, Mandibular pro...	ORPHA:1449
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Abnormality of the philtrum, Dyspnea, Choanal atresia, Aplasia/Hypoplasia o...	ORPHA:2759
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, High, narrow palate, Respiratory distress, Micrognathia, Smooth philtrum, Hypertel...	OMIM:608799
Chromosome 13Q14 Deletion Syndrome	Hypotelorism, High palate, Everted lower lip vermilion, Cryptorchidism, Micrognathia, Holoprosenc...	OMIM:613884
Pentasomy X	Plagiocephaly, Clinodactyly of the 5th finger, Abnormal cardiac septum morphology, Radioulnar syn...	ORPHA:11
Mosaic Variegated Aneuploidy Syndrome 2	Short nose, Decreased response to growth hormone stimulation test, Hypotelorism, Narrow mouth, Hy...	OMIM:614114
Chand Syndrome	Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala...	ORPHA:1401
Short Stature-Micrognathia Syndrome	Retrognathia, Hypotelorism, High palate, Micrognathia, Cleft palate, Cryptorchidism	OMIM:617164
Diaphanospondylodysostosis	Cleft palate, Myelomeningocele, Respiratory distress	ORPHA:66637
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Spina bifida occulta, Oligodontia, Micrognathia, Unilat...	ORPHA:1787
Facial Paresis, Hereditary Congenital, 3	Short nose, Short philtrum, Anteverted nares, High palate, Facial palsy, Downturned corners of mo...	OMIM:614744
Koolen-De Vries Syndrome	Narrow palate, Widely spaced teeth, Hypotelorism, Pear-shaped nose, High palate, Everted lower li...	OMIM:610443
Microphthalmia, Syndromic 12	Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate, Broad nasal tip, Neonatal death...	OMIM:615524
Cohen Syndrome	Optic atrophy, Delayed puberty, High, narrow palate, Decreased response to growth hormone stimula...	OMIM:216550
Oculodentodigital Dysplasia, Autosomal Recessive	Thin vermilion border, Hypoplasia of the primary teeth, Long nose, Delayed eruption of teeth, Den...	OMIM:257850
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Hypotelorism	ORPHA:477673
Moebius Syndrome	Respiratory distress, Facial diplegia, High palate, Abnormality of the dentition, Decreased testi...	OMIM:157900
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Short nose, Respiratory distress, Anteverted nares, High palate, Micrognathia, A...	ORPHA:314655
Galloway-Mowat Syndrome	Aqueductal stenosis, Hypotelorism, Abnormality of the dentition, Micrognathia, Hypertelorism, Hia...	ORPHA:2065
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Optic atrophy, Aqueductal stenosis, Hypotelorism, Short philtrum, Low hanging columella, Hydrocep...	OMIM:619512
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Anterior pituitary hypoplasia, Pyloric stenosis, Prominent nasal bridge, Narro...	ORPHA:464306
Saethre-Chotzen Syndrome	Narrow palate, Optic atrophy, Hypotelorism, Open bite, Hypoplasia of the maxilla, Cleft palate, P...	ORPHA:794
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Gómez-López-Hernández Syndrome	Hydrocephalus, Turricephaly, Brachycephaly	ORPHA:1532
Retinal Dystrophy With Leukodystrophy	Cleft palate, Hypotelorism	OMIM:618863
Trichorhinophalangeal Syndrome Type 2	Abnormal palate morphology, Supernumerary tooth, Thick nasal alae, Abnormality of the dentition, ...	ORPHA:502
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Delayed puberty, Supernumerary tooth, Nephrogenic diabetes insipidus, Carious teeth, Micrognathia...	ORPHA:3145
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Optic atrophy, Respiratory distress, Hydrocephalus, Anteverted nares, Gingival ove...	OMIM:123790
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hypotelorism, High palate, Micrognathia, Hyperthyroidism, Increased circulating prolactin concent...	ORPHA:502423
Trichorhinophalangeal Syndrome, Type Iii	Supernumerary tooth, Dental crowding, Pear-shaped nose, Smooth philtrum, Long philtrum, Bulbous n...	OMIM:190351
Cardiofacioneurodevelopmental Syndrome	Hypotelorism, Cryptorchidism, Micrognathia, Cleft palate, Cleft lip, Hypertelorism	OMIM:619123
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Seckel Syndrome 7	Prominent nose, Central hypothyroidism, Hypotelorism	OMIM:614851
Myasthenic Syndrome, Congenital, 6, Presynaptic	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:254210
Panhypophysitis	Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Orthostatic hypotension, Redu...	ORPHA:95513
Stormorken Syndrome	Hypotelorism, Short philtrum, Epistaxis, Prominent nose, Deeply set eye	OMIM:185070
Jacobsen Syndrome	Optic atrophy, U-Shaped upper lip vermilion, Short nose, Annular pancreas, Hydrocephalus, Antever...	OMIM:147791
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Small pituitary gland, Narrow nasal bridge, Cryptorchidism, Central hypothyro...	ORPHA:398079
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Short nose, Widely spaced teeth, Solitary median maxillary central incisor, Hypotel...	OMIM:301044
Lethal Recessive Chondrodysplasia	Micrognathia, Macroglossia, Respiratory distress	ORPHA:1423
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:178377
Vici Syndrome	Everted upper lip vermilion, Hypotelorism, Wide nose, High palate, Median cleft palate, Cleft upp...	OMIM:242840
Orofaciodigital Syndrome I	Hypothalamic hamartoma, Myelomeningocele, Ovarian cyst, Tongue nodules, Alveolar ridge overgrowth...	OMIM:311200
Restrictive Dermopathy 2	Rectal prolapse, Respiratory distress, Proptosis, Hypoplastic facial bones, Microretrognathia, Co...	OMIM:619793
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Macroglossia, High palate, Respiratory distress	ORPHA:254864
Solitary Bone Cyst	Abnormal tibia morphology, Abnormality of the medullary cavity of the long bones, Abnormal pariet...	ORPHA:83468
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Abnormality of the sphenoid sinus, Optic nerve compression, Anterior hy...	ORPHA:91350
Chromosome 15Q14 Deletion Syndrome	Short philtrum, Recurrent viral upper respiratory tract infections, Everted lower lip vermilion, ...	OMIM:616898
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Thick vermilion border, Ma...	ORPHA:364028
Cleidocranial Dysplasia	Supernumerary tooth, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Abnorm...	ORPHA:1452
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	High palate, Hypotelorism	OMIM:619053
Lig4 Syndrome	Hypotelorism, Hypothyroidism, Type II diabetes mellitus, Prominent nose, Cryptorchidism, Wide nas...	OMIM:606593
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:605809
Cleidocranial Dysplasia 2	Supernumerary tooth, Wide anterior fontanel, Delayed eruption of primary teeth, Hypoplasia of the...	OMIM:620099
Meckel Syndrome 14	Occipital encephalocele, Hypertelorism, Holoprosencephaly, Single ventricle	OMIM:619879
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Hermansky-Pudlak Syndrome 10	Retrognathia, Apnea, Hypotelorism, Smooth philtrum	OMIM:617050
Adenohypophysitis	Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co...	ORPHA:95512
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput	ORPHA:46
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Short Stature, Microcephaly, And Endocrine Dysfunction	Long nose, Hypotelorism, Tooth malposition, Cryptorchidism, Hypothyroidism, Prominent nasal bridg...	OMIM:616541
Intellectual Developmental Disorder, X-Linked 21	Short nose, Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth, Hyper...	OMIM:300143
Smith-Lemli-Opitz Syndrome	Proptosis, Tooth agenesis, Wide mouth, Long philtrum, Optic atrophy, Advanced eruption of teeth, ...	ORPHA:818
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,...	ORPHA:2255
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Short nose, Abnormality of canine, Tooth malposition, Oligodontia, Narrow mouth, A...	ORPHA:363417
Holoprosencephaly-Craniosynostosis Syndrome	Holoprosencephaly, Hypotelorism	ORPHA:2163
Maternal Phenylketonuria	Deviated nasal septum, Hypotelorism, Esophageal atresia, Anteverted nares, High palate, Micrognat...	ORPHA:2209
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Respiratory distress, High palate, Bilateral cryptorchidism, Death in infancy, Unil...	OMIM:300219
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Respiratory distress, Dental crowding, Mandibular con...	ORPHA:137888
Bardet-Biedl Syndrome 16	Hypogonadism, Respiratory distress	OMIM:615993
Steinfeld Syndrome	Median cleft palate, Bifid uvula, Holoprosencephaly, Absent gallbladder, Median cleft upper lip, ...	OMIM:184705
Nance-Horan Syndrome	Supernumerary tooth, Mandibular prognathia, Abnormality of the dentition, Prominent nasal bridge,...	ORPHA:627
Lymphedema, Primary, With Myelodysplasia	Hypotelorism	OMIM:614038
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Death in childhood, Hypotelorism, High palate, Wide mouth, Convex nasal ridge, Crypto...	OMIM:300661
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Branchial anomaly, Coloboma, Increased nuchal translucency, Abnorm...	ORPHA:453499
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Abnormal nasopharynx morphology, Decreased response to growth hormone stimulation te...	OMIM:129900
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome	Depressed nasal ridge, Tented upper lip vermilion, Malar flattening, Convex nasal ridge, Deep phi...	ORPHA:2104
Lissencephaly Syndrome, Norman-Roberts Type	Wide nose, Respiratory distress, Microretrognathia, Hypertelorism, Wide nasal bridge	ORPHA:89844
Pfeiffer Syndrome Type 3	Short nose, Aqueductal stenosis, Respiratory distress, High palate, Choanal atresia, Proptosis, A...	ORPHA:93260
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Respiratory distress, Carious teeth, Thick vermilion border, Wide nasal brid...	OMIM:617102
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth	ORPHA:3196
Tetrasomy 5P	Short nose, Respiratory distress, Hydrocephalus, Anteverted nares, High palate, Micrognathia, Lon...	ORPHA:3309
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Hydrocephalus, Camptodactyly of finger, Dolichocephaly, Dilated car...	ORPHA:272
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst	ORPHA:435938
Halperin-Birk Syndrome	Optic atrophy, Semilobar holoprosencephaly, Death in childhood, High palate, Micrognathia, Thick ...	OMIM:618651
Branchiogenic Deafness Syndrome	Branchial fistula, Branchial cyst	ORPHA:50815
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Optic atrophy, Short nose, Thick lower lip vermilion, Hypotelorism, Short philtrum, Oligodontia, ...	OMIM:309590
Ramos-Arroyo Syndrome	Deviated nasal septum, Aganglionic megacolon, Respiratory distress, Smooth tongue, Anteverted nar...	ORPHA:1051
White-Kernohan Syndrome	Retrognathia, Short nose, Hypotelorism, Rectovaginal fistula, Anteverted nares, Underdeveloped na...	OMIM:619426
Marshall Syndrome	Short nose, Thick lower lip vermilion, Absent frontal sinuses, Anteverted nares, Thick upper lip ...	OMIM:154780
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Annular pancreas, Hypotelorism, Duodenal atresia, Broad alveolar ridges, Anteverte...	OMIM:616975
Mosaic Trisomy 9	Hypotelorism, High palate, Cryptorchidism, Spina bifida, Intestinal malrotation, Micrognathia, Cl...	ORPHA:99776
Bardet-Biedl Syndrome 8	Brachycephaly, Situs inversus totalis, Postaxial polydactyly	OMIM:615985
Braddock Syndrome	Micrognathia, Hypotelorism	ORPHA:52047
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Hypotelorism, Optic nerve hypoplasia, Narrow mouth, Proptosis, Lobar holoprosenceph...	ORPHA:468631
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Paradoxical respiration, High palate, Respiratory distress	OMIM:620011
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Prominent nasal bridge, Mulberry mo...	OMIM:302350
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Hydrocephalus, Brachyturricephaly, Frontal bossing, Abnormal shape of the occiput,...	OMIM:218350
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Respiratory distress, High palate, Degeneration of anteri...	ORPHA:1145
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Cleft palate, Broad nasal tip, Tented upper lip vermilion, Hypertelorism, Wide nasal ...	OMIM:615716
Iniencephaly	Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spi...	ORPHA:63259
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Potocki-Shaffer Syndrome	Brachycephaly, Turricephaly, Parietal foramina, 2-5 finger cutaneous syndactyly, Brachydactyly	OMIM:601224
Prader-Willi Syndrome	Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t...	ORPHA:739
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Short philtrum, Anteverted nares, Mandibular prognathia, High palate, Tented upper lip vermilion,...	OMIM:620001
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Respiratory distress, Hydrocephalus, Anteverted nares, High palate, Smooth p...	OMIM:612863
Trichorhinophalangeal Syndrome Type 1	Supernumerary tooth, Long upper lip, High palate, Abnormality of the dentition, Micrognathia, Lon...	ORPHA:77258
Microphthalmia, Syndromic 3	Esophageal atresia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Hypothalamic hamartoma...	OMIM:206900
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Bowing of the long bones, Umbilical hernia, Short pal...	ORPHA:171839
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Respiratory distress	ORPHA:26792
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Retrognathia, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiect...	OMIM:235510
Succinic Acidemia	Respiratory distress	OMIM:600335
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pa...	OMIM:619721
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Wide nose, Stomach cancer, Depressed nasal ridge, Hypothyroidism, Micrognat...	ORPHA:1052
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly	OMIM:601370
10Q22.3Q23.3 Microdeletion Syndrome	Hypotelorism, Intestinal polyposis, Breast aplasia, Anteverted nares, Microretrognathia, Hypertel...	ORPHA:276413
Craniodigital-Intellectual Disability Syndrome	Brachycephaly, Finger syndactyly, Spina bifida occulta	ORPHA:1514
Neurogenic Arthrogryposis Multiplex Congenita	Micrognathia, Hypertelorism, Respiratory distress	ORPHA:1143
Familial Nasal Acilia	Respiratory distress, Dyspnea, Chronic rhinitis, Recurrent upper respiratory tract infections, Ch...	ORPHA:922
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Short nose, Respiratory distress, Anteverted nares, Na...	OMIM:608013
Lessel-Kreienkamp Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Patent foramen ovale, Pulmonic stenosis, Frontal b...	OMIM:619149
Autosomal Recessive Robinow Syndrome	Proptosis, Death in infancy, Wide mouth, Long philtrum, Short philtrum, Anteverted nares, Exagger...	ORPHA:1507
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Flat occiput	OMIM:618736
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Small pituitary gland, Narrow nasal bridge, Central hypothyroidism, Absence o...	ORPHA:398069
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Ventricular septal defect,...	ORPHA:94066
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis, Brachycephaly	OMIM:612247
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Duplication Of The Pituitary Gland	Supernumerary tooth, Retrognathia, Encephalocele, Abnormal pituitary gland morphology, Abnormal h...	ORPHA:314621
Pallister-Hall Syndrome	Hypothalamic hamartoma, Thyroid hypoplasia, Bifid uvula, Central adrenal insufficiency, Accessory...	ORPHA:672
Combined Oxidative Phosphorylation Deficiency 55	Hypotelorism, Anteverted nares, High palate, Open mouth, Depressed nasal bridge	OMIM:619743
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Esophageal atresia, Respiratory distress, Anteverted nares, Choanal atresia, Microgna...	OMIM:610536
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Dyskeratosis Congenita, Autosomal Recessive 8	Hypotelorism, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Esophageal stric...	OMIM:620133
Thrombocytopenia 6	Spontaneous, recurrent epistaxis, Hypotelorism, Deeply set eye	OMIM:616937
Ritscher-Schinzel Syndrome 1	Brachycephaly, Prominent occiput, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Tetral...	OMIM:220210
Muenke Syndrome	Brachycephaly, Plagiocephaly, Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epi...	OMIM:602849
Summitt Syndrome	Plagiocephaly, Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndacty...	ORPHA:3210
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Supernumerary tooth, Widely spaced teeth, Conical tooth, Abnormal cranial nerve morphology, Micro...	ORPHA:90024
Gaucher Disease Type 2	Abnormal pattern of respiration, Respiratory distress	ORPHA:77260
Meckel Syndrome, Type 1	Occipital encephalocele, Hypotelorism, Anencephaly, Hydrocephalus, Adrenal hypoplasia, Anal atres...	OMIM:249000
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Congenital ...	ORPHA:226313
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
X-Linked Centronuclear Myopathy	High palate, Respiratory distress	ORPHA:596
Charge Syndrome	Delayed puberty, Anosmia, Tracheoesophageal fistula, Optic atrophy, Abnormal soft palate morpholo...	ORPHA:138
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Respiratory distress, Anteverted nares, Downturned corners of mouth, Cleft palate, Pi...	OMIM:217980
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly, Polyhydramnios, Rhizomelic arm shortening, Abnormal fibular epiphysis mo...	ORPHA:96190
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Anteverted nares, Mandibular prognathia, Exaggerated cupid's bow, Narrow mouth, Everted lower lip...	OMIM:619720
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, High palate, Death in infancy, Irregular respiration, Depressed nasal bridge	OMIM:604377
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Oligodontia, Abnormality of the dentition	ORPHA:1264
8Q12 Microduplication Syndrome	Brachycephaly, Atrial septal defect, Ventricular septal defect, Short foot	ORPHA:228399
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Turricephaly, Finger syndactyly, Split hand, Micromelia, Brachydactyly, Craniosyno...	ORPHA:2145
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Widely spaced teeth, Small pituitary gland, Short lingual frenulum, Microdontia, Long philtrum, W...	OMIM:619479
Craniopharyngioma	Optic atrophy, Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Abnormal na...	ORPHA:54595
Hallermann-Streiff Syndrome	Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Underdeveloped na...	OMIM:234100
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Convex nasal ridge, Enamel hypoplasia	OMIM:614564
Cleidocranial Dysplasia 1	Narrow palate, Supernumerary tooth, High, narrow palate, Respiratory distress, Absent frontal sin...	OMIM:119600
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Hydrocephalus, Unilambdoid synostosis, Clinodactyly	OMIM:618577
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Occipital encephalocele, Aplasia of the epiglottis, Cryptorchidism, Microgna...	OMIM:615948
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microdontia, Bifid uvula, Long philtrum, Anteverted nares, Malar flattening, Hypertelorism, Bulbo...	OMIM:612474
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joint...	OMIM:618821
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Frontal bossing, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Synda...	OMIM:600325
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, 2-3 toe cutaneous syndactyly, Atrioventricular canal defect, Broad thumb, Frontal ...	OMIM:617364
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Long philtrum, Proptosis, Depressed nasal bridge, Respiratory distress	OMIM:617895
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Optic atrophy, Short philtrum, Proptosis, Alveolar ridge overgrowth, Tented upper lip vermilion, ...	OMIM:618346
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Cryptorchidism, Death in childhood, Respiratory distress	OMIM:615597
Distal Deletion 12Q	Supernumerary tooth, High, narrow palate, Maturity-onset diabetes of the young, Annular pancreas,...	ORPHA:96149
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Short philtrum, Hydrocephalus, Mandibular prognathia, Abnormal...	OMIM:239300
Keipert Syndrome	Exaggerated cupid's bow, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip verm...	ORPHA:2662
Arachnoid Cyst	Encephalocele, Hydrocephalus, Facial palsy, Holoprosencephaly, Lower limb muscle weakness	ORPHA:2356
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Short nose, Cryptorchidism, Aplasia of the nasal bone, Micrognathia, Holoprosencep...	OMIM:618820
Non-Distal Duplication 10Q	Brachycephaly, Frontal bossing	ORPHA:1695
Isolated Arrhinia	Midline defect of the nose, Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Absent ...	ORPHA:1134
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:251623
Autoimmune Polyendocrinopathy Type 3	Central diabetes insipidus, Hypergonadotropic hypogonadism, Anterior pituitary dysgenesis, Hashim...	ORPHA:227982
Myopathy And Diabetes Mellitus	Type I diabetes mellitus, Respiratory distress	ORPHA:2596
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly, Preaxial polydactyly, Ventricular septal defect, Bilateral talipes equinovarus, Po...	OMIM:618142
Odontochondrodysplasia 1	Respiratory distress, Delayed eruption of teeth, Death in infancy, Dentinogenesis imperfecta, Lon...	OMIM:184260
Oromandibular Dystonia	Abnormality of the nose, Abnormality of the temporomandibular joint, Respiratory distress, Abnorm...	ORPHA:93958
Smith-Lemli-Opitz Syndrome	Pyloric stenosis, Aganglionic megacolon, Hydrocephalus, Broad alveolar ridges, Dental crowding, A...	OMIM:270400
Meningioma	Neoplasm of the tongue, Proptosis, Decreased circulating cortisol level, Abnormal hypothalamus ph...	ORPHA:2495
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Clinodac...	ORPHA:2633
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Coffin-Siris Syndrome 12	Hypotelorism, Low hanging columella, Anteverted nares, Prominent nasal tip, High palate, Facial p...	OMIM:619325
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Meckel Syndrome	Optic atrophy, Anencephaly, Encephalocele, Hydrocephalus, Furrowed tongue, Depressed nasal ridge,...	ORPHA:564
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Cornelia De Lange Syndrome 2	Brachycephaly, Proximal placement of thumb, Short foot, Hypertrophic cardiomyopathy, Brachydactyl...	OMIM:300590
Microtia	Holoprosencephaly	ORPHA:83463
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Short nose, Triangular mouth, Short philtrum, Respiratory distress, Dental crowding...	OMIM:620369
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst, Optic disc coloboma	ORPHA:2260
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly	ORPHA:2528
Malaria	Respiratory distress	ORPHA:673
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Small pituitary gland, Downturned corners ...	OMIM:619476
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Osteoglophonic Dysplasia	Short nose, Delayed eruption of teeth, Respiratory distress, Anteverted nares, Eruption failure, ...	OMIM:166250
Intellectual Developmental Disorder, Autosomal Dominant 53	Hypotelorism, Intestinal malrotation, Wide mouth, Cryptorchidism, Duodenal atresia	OMIM:617798
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Aplasia of the epiglottis, High palate, Narrow mouth, Cleft mandible,...	OMIM:268305
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Patent foramen ovale, Camptodactyly, Bilateral talipes equinovarus, Frontal bossin...	OMIM:615539
Galloway-Mowat Syndrome 9	Hypertelorism, Hypotelorism, Hiatus hernia	OMIM:619603
Carpenter Syndrome 1	Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu...	OMIM:201000
Bor Syndrome	Branchial cyst	ORPHA:107
Ulnar-Mammary Syndrome	Delayed puberty, Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nip...	OMIM:181450
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, Recurrent upper respiratory tract infections, High palate, Persistence of pr...	OMIM:619752
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Diabetes insipidus, Hydrocephalus, Anteverted nares, Anterior pituitary hypo...	OMIM:619534
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly, Polyhydramnios	ORPHA:521390
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Short philtrum, Anteverted nares, High palate, Tented upper lip vermilion, Long philt...	OMIM:614105
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Patent ductus arteriosus, Patent foramen ovale, Abnormal heart morphology, Umbilic...	ORPHA:500159
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Proptosis, Hypoplastic facial bones, Long philtrum, Narrow nose, Increased se...	OMIM:264090
Respiratory Distress Syndrome In Premature Infants	Tachypnea, Dyspnea, Respiratory distress	OMIM:267450
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Supernumerary tooth, Agenesis of molar, Anosmia, Microdontia, Cryptorchidism, Di...	OMIM:619718
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Transposition of the great arteries, Patent foramen ovale, Frontal ...	OMIM:616789
Autosomal Dominant Robinow Syndrome	Retrognathia, Proptosis, Long philtrum, Anodontia, Short philtrum, Anteverted nares, Oligodontia,...	ORPHA:3107
German Syndrome	Brachycephaly, Lymphedema, Camptodactyly of finger, Dolichocephaly, Tetralogy of Fallot, Abnormal...	ORPHA:2077
Smith-Magenis Syndrome	Delayed puberty, Short nose, Short philtrum, Anteverted nares, Mandibular prognathia, Hypothyroid...	ORPHA:819
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Cranioectodermal Dysplasia 1	High, narrow palate, Widely spaced teeth, Hypotelorism, Anteverted nares, High palate, Everted lo...	OMIM:218330
Hyperlysinemia	Depressed nasal ridge, High palate, Smooth philtrum, Hypotelorism	ORPHA:2203
Glycosylphosphatidylinositol Biosynthesis Defect 11	Wide nasal bridge, Macroglossia, High palate, Tented upper lip vermilion	OMIM:616025
Autoimmune Polyendocrinopathy Type 4	Central diabetes insipidus, Hypergonadotropic hypogonadism, Anterior pituitary dysgenesis, Thymom...	ORPHA:227990
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly, Transposition of the great arteries, Clinodactyly of the 5th finger...	OMIM:619910
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Nonimmune hydrops fetalis, Brach...	OMIM:618265
Trichothiodystrophy	Retrognathia, High, narrow palate, Hypotelorism, Enamel hypoplasia, Carious teeth, Hypoplasia of ...	ORPHA:33364
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Respiratory distress, Underdeveloped nasa...	OMIM:305100
Isolated Sedoheptulokinase Deficiency	Abnormality of globe location, Steatorrhea, Hypotelorism, Shallow orbits	ORPHA:440713
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Advanced eruption of teeth, Short philtrum, Encephalocele, Choanal atresia, Cleft li...	OMIM:619148
Craniofaciofrontodigital Syndrome	Respiratory distress, Gingival overgrowth, Prominent median palatal raphe, Proptosis, Dyspnea, Py...	ORPHA:363705
Naegeli-Franceschetti-Jadassohn Syndrome	Supernumerary tooth, Decreased number of sweat glands, Yellow-brown discoloration of the teeth, P...	ORPHA:69087
Recombinant Chromosome 8 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Camptodactyly, Pulmonic stenosis, Tetralogy of Fal...	OMIM:179613
Diaphanospondylodysostosis	Short nose, Respiratory distress, Depressed nasal ridge, Micrognathia, Cleft palate, Hyperteloris...	OMIM:608022
Tooth Agenesis, Selective, 3	Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia	OMIM:604625
Brown-Vialetto-Van Laere Syndrome 1	Nocturnal hypoventilation, Death in childhood, Respiratory distress, Facial palsy, Dyspnea, Crani...	OMIM:211530
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Swollen lip, Respiratory distress	ORPHA:100057
Coffin-Siris Syndrome 1	Retrognathia, Duodenal ulcer, Microdontia, Intestinal malrotation, Wide mouth, Long philtrum, Int...	OMIM:135900
Folinic Acid-Responsive Seizures	Optic atrophy, Apnea, Respiratory distress	ORPHA:79097
Microlissencephaly-Micromelia Syndrome	Short nose, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyr...	ORPHA:50810
Radio-Renal Syndrome	Retrognathia, High, narrow palate, Respiratory distress, Dyspnea, Downturned corners of mouth, Mi...	ORPHA:3015
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Turricephaly, Abnormal metacarpal morphology, Hydrocephalus, Frontal bossing, Brac...	ORPHA:93262
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Recurrent upper respiratory tract infections	OMIM:263000
Craniofrontonasal Dysplasia	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Fron...	ORPHA:1520
Developmental And Epileptic Encephalopathy 80	High palate, Proptosis, Protruding tongue, Death in infancy, Micrognathia, Wide mouth, Tented upp...	OMIM:618580
Thyroid Lymphoma	Respiratory distress, Dyspnea, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter	ORPHA:97285
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Hydrocele testis	OMIM:620062
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Non-midline cleft of the upper lip, Bilateral cleft palate, Depressed nasal ridge, T...	ORPHA:2003
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati...	ORPHA:2232
Band Heterotopia	Hydrocephalus, Plagiocephaly	OMIM:600348
Laryngotracheal Angioma	Apnea, Intercostal retractions, Respiratory distress	ORPHA:137935
Kniest Dysplasia	Respiratory distress, Proptosis, Cleft palate, Malar flattening, Depressed nasal bridge	OMIM:156550
Rothmund-Thomson Syndrome, Type 2	Supernumerary tooth, Short nose, Annular pancreas, Delayed eruption of teeth, Mandibular prognath...	OMIM:268400
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells, High palate, Respiratory distress	OMIM:271225
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypodontia, Short nose, Respiratory distress, Narrow nasal bridge	ORPHA:544503
Sheehan Syndrome	Breast hypoplasia, Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prola...	ORPHA:91355
Laryngomalacia	Respiratory distress	OMIM:150280
Congenital Syphilis	Optic atrophy, Hydrocephalus, High palate, Notched primary central incisor, Semilunar tooth, Rhin...	ORPHA:499009
Anaplastic Thyroid Carcinoma	Respiratory distress, Anaplastic thyroid carcinoma, Dyspnea, Tracheoesophageal fistula, Nodular g...	ORPHA:142
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Platystencephaly, Dolichocephaly	OMIM:618774
Muenke Syndrome	Brachycephaly, Plagiocephaly, Tarsal synostosis, Hydrocephalus, Coronal craniosynostosis, Short p...	ORPHA:53271
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Brachycephaly, Encephalocele, Coronal craniosynostosis, Frontal bossing, Calvarial skull defect, ...	ORPHA:228390
Idiopathic Neonatal Atrial Flutter	Tachypnea, Maternal diabetes, Respiratory distress	ORPHA:45452
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Dental crowding, Thyroid hypoplasia, Agenesis of permanent teeth, Wide mou...	OMIM:619503
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Pleural Mesothelioma	Dyspnea, Respiratory distress	ORPHA:50251
Branchiootorenal Syndrome 1	Branchial fistula, Branchial cyst	OMIM:113650
Cardioacrofacial Dysplasia 2	Short philtrum, Conical tooth, Mandibular prognathia, Prominent nasal tip, Tented upper lip vermi...	OMIM:619143
Joubert Syndrome 14	Optic atrophy, Short philtrum, Encephalocele, Hydrocephalus, Meningocele, Cleft palate, Prominent...	OMIM:614424
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Micrognathia, Bifid uvula, Cleft palate, Respiratory distress	OMIM:606164
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Chromosome 3Pter-P25 Deletion Syndrome	Brachycephaly, Atrioventricular canal defect, Trigonocephaly, Postaxial polydactyly, Dolichocepha...	OMIM:613792
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Doors Syndrome	Wide nasal base, Broad alveolar ridges, Adrenal hyperplasia, Long philtrum, Narrow palate, Optic ...	ORPHA:79500
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognat...	OMIM:610706
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Polyhydramnios, Hydrops fetalis, Flared metaphysis, Pleural effusion, Ascites, Hyp...	OMIM:616897
Even-Plus Syndrome	Brachycephaly, Patent foramen ovale, Dysplasia of the femoral head, Atrial septal defect, Oligohy...	OMIM:616854
Degcags Syndrome	Retrognathia, Proptosis, Wide mouth, Long philtrum, Anteverted nares, Hypertelorism, Hiatus herni...	OMIM:619488
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly, Patent foramen ovale, Camptodactyly, Abnormal heart morphology, Syn...	ORPHA:369891
Cooper-Jabs Syndrome	Brachycephaly, Proximal placement of thumb, Frontal bossing, Camptodactyly of finger, Umbilical h...	ORPHA:1488
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Anterior hypopituitarism, Panhypopituitarism, Hyperpituitarism, Hypogon...	ORPHA:91351
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency...	ORPHA:199302
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Intellectual Developmental Disorder, Autosomal Dominant 26	Brachycephaly, Clinodactyly of the 5th finger, Umbilical hernia	OMIM:615834
Camptodactyly Syndrome, Guadalajara Type 1	Brachycephaly, Spina bifida, Camptodactyly of finger, Short toe, Brachydactyly, Short distal phal...	ORPHA:1327
Raine Syndrome	Proptosis, Microdontia, Death in infancy, Wide mouth, Hydrocephalus, Choanal atresia, Cleft palat...	OMIM:259775
Omodysplasia 2	Bifid nasal tip, Micrognathia, Cleft palate, Hypertelorism, Tented upper lip vermilion, Long phil...	OMIM:164745
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Pachyonychia Congenita	Advanced eruption of teeth, Respiratory distress, Angular cheilitis, Natal tooth, Oral leukoplakia	ORPHA:2309
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Pulmonic stenosis, Cranial asymmetry, Abnormal pulmonary valve morphology	ORPHA:137634
Monosomy 13Q14	Micrognathia, Prominent nasal bridge, Holoprosencephaly, Hypertelorism, Wide nasal bridge	ORPHA:1587
Mogs-Cdg	Optic atrophy, Retrognathia, Hypoventilation, Wide nose, Respiratory distress, High palate, Inapp...	ORPHA:79330
Pierpont Syndrome	Brachycephaly, Short finger, Prominent fingertip pads, Short palm, Short toe, Short foot	OMIM:602342
Contractural Arachnodactyly, Congenital	Brachycephaly, Talipes equinovarus, Bowing of the long bones, Congenital finger flexion contractu...	OMIM:121050
Peters-Plus Syndrome	Bilobate gallbladder, Thin vermilion border, Widely spaced teeth, Conical incisor, Wide anterior ...	OMIM:261540
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Hydranencephaly	Hypotelorism, Optic nerve hypoplasia, Dysgenesis of the thalamus, Atrophic pituitary gland, Thala...	ORPHA:2177
Pierpont Syndrome	Brachycephaly, Short finger, Prominent fingertip pads, Short toe	ORPHA:487825
Clark-Baraitser Syndrome	Brachycephaly, Dolichocephaly, Clinodactyly, Sandal gap	OMIM:617752
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Talipes equinovarus	OMIM:619972
Bronchopulmonary Dysplasia	Dyspnea, Central apnea, Respiratory distress	ORPHA:70589
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina	ORPHA:52022
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Fetal Trimethadione Syndrome	Brachycephaly, Transposition of the great arteries, Tetralogy of Fallot, Atrial septal defect, Ve...	ORPHA:1913
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Coloboma, Increased nuchal translucency, Abnormal heart morphology, Cystic hyg...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Coloboma, Increased nuchal translucency, Abnormal heart morphology, Cystic hyg...	ORPHA:352665
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Bilateral breast hypoplasia, Hypotelorism	ORPHA:319675
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Short distal phalanx of toe, Biparietal narrowing,...	ORPHA:1292
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Hydrocephalus, Camptodactyly, Aortic valve stenosis, Trigonocephaly, Atrial septal...	ORPHA:459061
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory distress, Tachypnea, Death in infancy	OMIM:614299
Pseudodiastrophic Dysplasia	Brachycephaly, Rhizomelia, Camptodactyly, Frontal bossing, Phalangeal dislocation, Talipes equino...	OMIM:264180
Severe Acute Respiratory Syndrome	Diabetes mellitus, Dyspnea, Respiratory distress	ORPHA:140896
Rubinstein-Taybi Syndrome 1	Retrognathia, Dental crowding, Proptosis, Premature thelarche, Narrow palate, Talon cusp, Cleft p...	OMIM:180849
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Malar f...	OMIM:154500
Achondrogenesis, Type Ii	Brachycephaly, Stillbirth, Short tubular bones of the hand, Polyhydramnios, Hydrops fetalis, Fron...	OMIM:200610
Tularemia	Oral ulcer, Abnormal nasopharyngeal adenoid morphology, Respiratory distress	ORPHA:3392
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress	ORPHA:254875
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Coffin-Siris Syndrome 6	Plagiocephaly, Frontal bossing, Brachydactyly, Atrial septal defect, Clinodactyly	OMIM:617808
Prune1-Related Neurological Syndrome	Plagiocephaly, Hypertrophic cardiomyopathy, Bilateral talipes equinovarus	ORPHA:544469
Stt3B-Cdg	Optic atrophy, Cryptorchidism, Respiratory distress	ORPHA:370924
Bloom Syndrome	Cryptorchidism, Malar flattening, Type II diabetes mellitus, Recurrent upper respiratory tract in...	OMIM:210900
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Short philtrum, Delayed eruption of teeth, Gingival overgrowth...	ORPHA:2136
Schwartz-Jampel Syndrome	Supernumerary tooth, Narrow mouth, Everted lower lip vermilion, High palate, Death in infancy, De...	ORPHA:800
Waardenburg Syndrome Type 1	Short nose, Aganglionic megacolon, Meningocele, Mandibular prognathia, Spina bifida, Cleft upper ...	ORPHA:894
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip vermilion, High palate, E...	OMIM:608670
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Optic disc coloboma...	ORPHA:261337
Scalp-Ear-Nipple Syndrome	Hypotelorism, Breast aplasia, Anteverted nares, Mandibular prognathia, Bifid uvula, Agenesis of p...	OMIM:181270
Pfeiffer Syndrome Type 1	Brachycephaly, Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short ...	ORPHA:93258
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Glossoptosis, Abnormality of the dentition, Narrow mout...	ORPHA:2108
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Abnormal heart morphology, Hypertrophic cardiomyopathy	ORPHA:70472
Nipah Virus Disease	Recurrent pharyngitis, Respiratory distress	ORPHA:99825
Charge Syndrome	Delayed puberty, Anosmia, Tracheoesophageal fistula, Decreased response to growth hormone stimula...	OMIM:214800
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Rocker bottom foot, Clinodactyly of the 5th finger, Patent ductus arteriosus, Hydr...	OMIM:612582
Inverted Duplicated Chromosome 15 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tetralogy of Fallot, Brachydac...	ORPHA:3306
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Brachycephaly, Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Hydrocephalus, Femo...	OMIM:207410
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea, Recurrent upper respiratory tract infections	ORPHA:60032
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly, Polyhydramnios, Increased nuchal translucency	OMIM:618862
Frontofacionasal Dysplasia	Orofacial cleft, Midline defect of the nose, Short nose, Hypoplasia of the frontal bone, Cleft up...	OMIM:229400
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, Abnormal metaphysis morphology, Spina bifida occulta, Aortic valve stenosis, Front...	ORPHA:2780
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Anteverted nares, Everted lower lip vermilion, Long philtr...	ORPHA:75389
Crouzon Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Multiple suture craniosynostosis, Frontal bossing	ORPHA:207
Houge-Janssens Syndrome 3	Plagiocephaly, Muscular ventricular septal defect, Frontal bossing, Umbilical hernia, Atrial sept...	OMIM:618354
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Distal 22Q11.2 Microdeletion Syndrome	Truncus arteriosus, Intrauterine growth retardation, Atrial septal defect, Ventricular septal def...	ORPHA:261330
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Supernumerary tooth, Thin vermilion border, Anteverted nares, Thick vermilion border, Malar flatt...	ORPHA:86818
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth	OMIM:620114
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Dyspnea, Respiratory distress	ORPHA:86812
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Umbilical hernia, Patent ductus arteriosus, Bicuspid aortic valve, Ventricular sep...	OMIM:617751
Chime Syndrome	Supernumerary tooth, Short philtrum, Abnormality of the dentition, Microdontia, Depressed nasal r...	ORPHA:3474
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Tapered finger	ORPHA:352530
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Short nose, Respiratory distress, Hydrocephalus, Anteverted nares, High palate, Proptosis, Microd...	ORPHA:536467
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly, Short palm, Short foot	OMIM:614563
Laurence-Moon Syndrome	Brachycephaly, Hand polydactyly, Finger syndactyly, Brachydactyly	ORPHA:2377
Fanconi Anemia, Complementation Group D2	Annular pancreas, Hypotelorism, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Hyp...	OMIM:227646
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly, Increased nuchal translucency	ORPHA:77300
Tetanus	Respiratory distress, Abnormal autonomic nervous system physiology, Trismus, Tachypnea, Autonomic...	ORPHA:3299
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Mandibular prognathia, Everted lower lip vermilion, Tented upper lip vermilion, Smoot...	ORPHA:261144
Gillessen-Kaesbach-Nishimura Syndrome	Brachycephaly, Polyhydramnios, Abnormal heart morphology, Metaphyseal widening, Ulnar deviation o...	OMIM:263210
Myotonic Dystrophy 1	Cholelithiasis, Respiratory distress, Facial diplegia, Hypogonadism, Testicular atrophy	OMIM:160900
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Cranial asymmetry, Patent ductus arteriosus, Double outlet right ventricle, Atrial...	OMIM:614886
Ciliary Dyskinesia, Primary, 2	Sinusitis, Nasal polyposis, Respiratory distress	OMIM:606763
Lujan-Fryns Syndrome	Brachycephaly, Arachnodactyly, Camptodactyly of finger, Brachydactyly, Atrial septal defect	ORPHA:776
Rodrigues Blindness	Narrow nasal bridge, Nasal flaring, Tooth malposition	OMIM:268320
Synaptic Congenital Myasthenic Syndromes	Hypoventilation, Exertional dyspnea, Triangular mouth, Respiratory distress, Mandibular prognathi...	ORPHA:98915
Kury-Isidor Syndrome	Brachycephaly, Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Frontal bossin...	OMIM:619762
Congenital Disorder Of Glycosylation, Type Ig	Wide nose, Short philtrum, Respiratory distress, Recurrent upper respiratory tract infections, Cr...	OMIM:607143
Chronic Pneumonitis Of Infancy	Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress	ORPHA:91359
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Abnormal spinal cord morphology, Paresis of extensor muscles of the big toe	ORPHA:99947
Ctcf-Related Neurodevelopmental Disorder	Thin vermilion border, Short nose, Short philtrum, Anteverted nares, Narrow mouth, Abnormality of...	ORPHA:363611
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Death in childhood, Wide nose, Respiratory distress, Thick vermilion border, Macro...	OMIM:617303
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Hydrocephalus, Neonatal death, Central apnea, Depressed nasal bridge	OMIM:616482
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Respiratory distress	ORPHA:289916
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormality of the sphenoid sinus, Hypotelorism, Hydrocephalus, High palate, Sinusitis, Micrognat...	ORPHA:363700
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Broad thumb, Arachnodactyly, Toe clinodactyly, Bro...	ORPHA:251019
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Brachycephaly, Hyperextensibility of the finger joints, Broad thumb, Arachnodactyly, Toe syndacty...	ORPHA:505237
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Death in childhood, Exertional dyspnea, Respiratory distress, High palate	OMIM:220110
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly	ORPHA:320385
Autosomal Recessive Spastic Paraplegia Type 77	Retrognathia, Macrodontia of permanent maxillary central incisor, Bilateral cryptorchidism, Sudde...	ORPHA:466722
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypotelorism, Esophageal varix, High palate, Bile duct proliferation, Intestinal malrotation, Tac...	OMIM:613658
Chromosome 17P13.1 Deletion Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Proximal placement of thumb, Hydrocephalus, Short foo...	OMIM:613776
Anauxetic Dysplasia 3	Plagiocephaly, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping, Femoral bowing, ...	OMIM:618853
Familial Adenomatous Polyposis	Eruption failure, Odontoma, Pituitary adenoma, Duodenal adenocarcinoma, Multiple gastric polyps, ...	ORPHA:733
Isolated Atp Synthase Deficiency	Optic atrophy, Hypothyroidism, Hypogonadism, Respiratory distress	ORPHA:254913
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Hydrops fetalis, Ascites, Pericardial effusion, Frontal bossing, Atrial septal defect	OMIM:608776
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly	OMIM:615031
Kleefstra Syndrome 2	Plagiocephaly	OMIM:617768
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Respiratory distress	ORPHA:79312
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly, Broad distal phalanx of finger, Postaxial polydactyly, Sandal gap	OMIM:615761
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Micrognathia, Long philtrum, Dental malocclusion, Cryptorchidism, Wide nasal br...	ORPHA:444072
Keppen-Lubinsky Syndrome	Short philtrum, Narrow nasal bridge, Gingival overgrowth, Prominent nasal tip, High palate, Propt...	ORPHA:435628
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Respiratory distress, Pierre-Robin sequence, Bifid uvula, Cleft palate, Mala...	OMIM:183900
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Brachycephaly, Broad thumb, Flat occiput, Overlapping toe, Atrial septal defect, Ventricular sept...	OMIM:617452
Cornelia De Lange Syndrome 5	Brachycephaly, Clinodactyly of the 5th finger, Proximal placement of thumb, Toe syndactyly, Short...	OMIM:300882
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, Frontal bossing, Craniosynostosis	ORPHA:314575
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
Shprintzen Omphalocele Syndrome	Thin vermilion border, Flared nostrils, Anal atresia, Hypoplasia of the pharynx, Wide nasal bridg...	OMIM:182210
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing, 2-3 toe cutaneous syndactyly, Prominent fingertip pads	OMIM:615828
Fryns Syndrome	Aganglionic megacolon, Non-midline cleft of the upper lip, Anteverted nares, Ectopic anus, High p...	ORPHA:2059
Grant Syndrome	Brachycephaly, Frontal bossing, Bowing of the long bones	ORPHA:2097
Chromosome 2Q37 Deletion Syndrome	Brachycephaly, Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of ...	OMIM:600430
Mgat2-Cdg	Low hanging columella, Abnormality of the endocrine system, Dental crowding, Respiratory distress...	ORPHA:79329
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:293978
Ear-Patella-Short Stature Syndrome	Retrognathia, High, narrow palate, Breast aplasia, Respiratory distress, Narrow mouth, Mandibular...	ORPHA:2554
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Wide nose, Delayed eruption of teeth, Dental crowding, Mandib...	OMIM:614188
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly	OMIM:618603
ERI1-related disease	Brachycephaly, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Cutaneous sy...	OMIM:608739
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Frontal bossing, Tapered finger, Plagiocephaly	OMIM:616801
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Achard Syndrome	Brachycephaly, Arachnodactyly, Broad skull	OMIM:100700
Mitochondrial Complex I Deficiency, Nuclear Type 37	High palate, Respiratory distress	OMIM:619272
6Q25 Microdeletion Syndrome	Rocker bottom foot, Plagiocephaly, Clinodactyly of the 5th finger, Camptodactyly of finger	ORPHA:251056
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly, Sandal gap	OMIM:615516
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Thick lower lip vermilion, Mesiodens, Wide nose, Anteverted nares, Narrow mouth, Long philtrum, D...	ORPHA:314647
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Acrodysostosis	Brachycephaly, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal femur morphology, Abnor...	ORPHA:950
Arboleda-Tham Syndrome	Optic atrophy, Short philtrum, Low hanging columella, Peg-shaped maxillary lateral incisors, Resp...	OMIM:616268
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly, Talipes equinovarus	OMIM:617481
Congenital Diaphragmatic Hernia	Intestinal malrotation, Respiratory distress	ORPHA:2140
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Achondroplasia	Respiratory distress, Hydrocephalus, Death in infancy, Choanal stenosis, Malar flattening, Depres...	OMIM:100800
Osteogenesis Imperfecta, Type X	Death in childhood, Respiratory distress, Shallow orbits, Pyloric stenosis, Micrognathia, Dentino...	OMIM:613848
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, Abnormal femoral neck/head morphology, Hemiatrophy of upper limb, Slender finger, ...	ORPHA:163649
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Autoamputation of digits	ORPHA:494
Robinow-Sorauf Syndrome	Plagiocephaly, Broad thumb, Broad hallux, Pansynostosis, Craniosynostosis, Hallux valgus, Duplica...	OMIM:180750
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Respiratory distress, Mandibular prognathia, High palate, Death in infancy	OMIM:620278
Schinzel-Giedion Syndrome	Retrognathia, Broad alveolar ridges, Proptosis, Shallow orbits, Wide mouth, Aganglionic megacolon...	ORPHA:798
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly, Sandal gap, Short foot, Clinodactyly, Tapered finger, Small hand	OMIM:618089
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Neonatal death, Apnea, Tachy...	OMIM:610921
3P25.3 Microdeletion Syndrome	Brachycephaly, Proximal placement of thumb, Acromesomelia, Pulmonic stenosis, Broad thumb, Postax...	ORPHA:435638
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Brachycephaly	OMIM:300958
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress	OMIM:620375
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:94089
Diamond-Blackfan Anemia 10	Respiratory distress, Choanal atresia, Micrognathia, Cleft palate, Malar flattening	OMIM:613309
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly, Clinodactyly of the 5th finger, Clinodactyly of the 2nd finger, Broad thumb, Short...	OMIM:620073
Familial Adenomatous Polyposis 1	Supernumerary tooth, Duodenal polyposis, Adrenocortical adenoma, Eruption failure, Odontoma, Papi...	OMIM:175100
Campomelic Dysplasia	Spinal dysraphism, Respiratory distress, Hydrocephalus, Narrow mouth, High palate, Depressed nasa...	OMIM:114290
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly, Abnormal heart morphology, Umbilical hernia, Tapered finger	ORPHA:261652
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Plagiocephaly, Polyhydramnios, Spina bifida occulta, Prominent occiput, Camptodactyly, Atrial sep...	OMIM:617360
Kyphoscoliotic Ehlers-Danlos Syndrome	Micrognathia, High palate, Abnormal nasal bridge morphology, Hypotelorism	ORPHA:536545
Bresek Syndrome	Hydrocephalus, Plagiocephaly, Neonatal death, Postaxial hand polydactyly	ORPHA:85284
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Aganglionic megacolon, Anal stenosis, Anal atresia, Cleft palate, Broad nasal tip, Te...	OMIM:614749
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Anteverted nares, Communicating hydrocephalus, Short nasal bridge, Ovarian ...	OMIM:618188
Omphalocele Syndrome, Shprintzen-Goldberg Type	Anal atresia, Downturned corners of mouth, Hypoplasia of the pharynx, Thin upper lip vermilion, S...	ORPHA:3164
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
Treacher-Collins Syndrome	Branchial fistula, Patent ductus arteriosus, Encephalocele, Iris coloboma	ORPHA:861
Pontocerebellar Hypoplasia, Type 3	Brachycephaly	OMIM:608027
Houge-Janssens Syndrome 2	Plagiocephaly, Hydrocephalus, Postaxial polydactyly, Deviation of the 5th finger, Broad hallux	OMIM:616362
Gardner Syndrome	Supernumerary tooth, Neoplasm of the pancreas, Adrenocortical adenoma, Odontoma, Abnormality of t...	ORPHA:79665
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Sandal gap, Frontal bossing, Tapere...	OMIM:618430
Arterial Tortuosity Syndrome	Short nose, Abnormal zygomatic bone morphology, Respiratory distress, Dyspnea, Esophagitis, Media...	ORPHA:3342
Smith-Magenis Syndrome	Brachycephaly, Short palm, Abnormal heart morphology, Brachydactyly	OMIM:182290
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly	ORPHA:93950
Arthrogryposis, Distal, Type 4	Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Cranial asymmetry, Camptodactyly, Fib...	OMIM:609128
Acute Lung Injury	Tachypnea, Dyspnea, Respiratory distress	ORPHA:178320
Hoxha-Aliu Syndrome	Brachycephaly, Contracture of the proximal interphalangeal joint of the 4th finger, Perimembranou...	OMIM:620662
Nasolacrimal Duct Cyst	Deviated nasal septum, Intercostal retractions, Nasal congestion, Paroxysmal dyspnea, Episodic re...	ORPHA:141083
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Supernumerary tooth, Retrognathia, Widely spaced teeth, Short nose, Decreased response to growth ...	ORPHA:268261
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Natal tooth, Right ventricular hypertrophy, Optic disc coloboma, Intrauteri...	OMIM:620186
Alagille Syndrome	Brachycephaly, Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Fron...	ORPHA:52
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Dyspnea, Increased circulating procalcitonin concentration, Tachypnea, Diab...	ORPHA:36238
Gorlin-Chaudhry-Moss Syndrome	Brachycephaly, Abnormal metacarpal morphology, Coronal craniosynostosis, Umbilical hernia, Patent...	ORPHA:2095
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis invol...	ORPHA:371428
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Cleft palate, Bifid nose, Aplasia/Hypo...	ORPHA:306542
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral valve prolapse, Left ventricular ...	OMIM:245600
Noonan Syndrome 13	Plagiocephaly, Lymphedema, Tapered finger, Bilateral talipes equinovarus, Metatarsus adductus, Mi...	OMIM:619087
Primary Dystonia, Dyt4 Type	Open mouth, Respiratory distress	ORPHA:98805
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Brachycephaly, Patent ductus arteriosus	OMIM:609757
Congenital Pulmonary Lymphangiectasia	Respiratory distress	ORPHA:2414
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Elevated circulating thyroid-stimulating hormone concentration, Enlarged pituita...	ORPHA:91347
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress	OMIM:250940
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly	OMIM:615419
Congenital Myasthenic Syndrome	Sudden episodic apnea, Frontalis muscle weakness, High palate, Apneic episodes precipitated by il...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Frontalis muscle weakness, High palate, Apneic episodes precipitated by il...	ORPHA:98914
Hereditary Pulmonary Alveolar Proteinosis	Tachypnea, Respiratory distress	ORPHA:264675
Pulmonary Non-Tuberculous Mycobacterial Infection	Dyspnea, Respiratory distress	ORPHA:411703
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Hypotelorism, Cleft soft palate	OMIM:614557
Larsen-Like Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Radial deviation of the 4th finger, Frontal bossin...	OMIM:608545
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Depressed nasal bridge, Respiratory distress	OMIM:151210
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing, Secundum atrial septal defect	OMIM:608688
Atelosteogenesis Type Ii	Sandal gap, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, Ulnar deviati...	ORPHA:56304
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Abnormal neuron branching, Esophageal varix, Respiratory distress	ORPHA:367
Apert Syndrome	Brachyturricephaly, Broad thumb, Syndactyly, Craniosynostosis, Hydrocephalus, Postaxial hand poly...	OMIM:101200
Inhalational Anthrax	Respiratory distress, Dyspnea, Abnormal sweat gland morphology	ORPHA:247257
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Frontal bossing, Patent ductus arteriosus, Short d...	OMIM:619293
Desanto-Shinawi Syndrome	Brachycephaly	OMIM:616708
Avian Influenza	Tachypnea, Miscarriage, Dyspnea, Respiratory distress	ORPHA:454836
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Respiratory distress	OMIM:620166
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Depressed nasal bridge, Respiratory distress	OMIM:231680
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Abnorma...	ORPHA:404440
Williams-Beuren Syndrome	Short nose, Rectal prolapse, Thick lower lip vermilion, Hypotelorism, Hypodontia, Anteverted nare...	OMIM:194050
Frontonasal Dysplasia 2	Brachycephaly, Encephalocele, Parietal foramina, Anterior plagiocephaly, Craniosynostosis, Calvar...	OMIM:613451
Keppen-Lubinsky Syndrome	Short philtrum, Narrow nasal bridge, Gingival overgrowth, Decreased serum leptin, High palate, Pr...	OMIM:614098
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology	ORPHA:139578
Microphthalmia, Syndromic 2	Supernumerary tooth, Radiculomegaly, Dental malocclusion, Delayed eruption of teeth, Oligodontia,...	OMIM:300166
19P13.12 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Toe clinodactyly, S...	ORPHA:254346
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Spina bifida occulta, Truncus arteriosus, Dysplastic aortic valve,...	ORPHA:508488
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Skull asymmetry	OMIM:601853
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi...	ORPHA:348
Hereditary Angioedema Type 1	Respiratory distress, Abnormal soft palate morphology, Dyspnea, Abnormal uvula morphology, Intest...	ORPHA:100050
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Crouzon Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Frontal boss...	OMIM:123500
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, Dextrotransposition of the great arteries, Ventricular septal defect, Brachydactyly	OMIM:619995
Birk-Barel Syndrome	Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion...	OMIM:612292
Hypomandibular Faciocranial Dysostosis	Brachycephaly, Polyhydramnios, Trigonocephaly, Patent ductus arteriosus, Craniosynostosis, Atrial...	ORPHA:1790
Meier-Gorlin Syndrome 1	Breast hypoplasia, Respiratory distress, High palate, Narrow mouth, Microdontia, Death in infancy...	OMIM:224690
Non-Functioning Pituitary Adenoma	Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease...	ORPHA:91349
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Ellis Van Creveld Syndrome	Thin vermilion border, Delayed eruption of teeth, Conical incisor, Abnormality of the dentition, ...	ORPHA:289
Limb Body Wall Complex	Short umbilical cord, Ectopia cordis, Aplasia/hypoplasia involving bones of the upper limbs, Anen...	ORPHA:2369
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Immunodeficiency 47	Hypotelorism, Death in infancy	OMIM:300972
Trichodermodysplasia-Dental Alterations Syndrome	Supernumerary tooth, Adenoma sebaceum, Delayed eruption of teeth, Tooth agenesis, Abnormal dental...	ORPHA:3353
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Patent foramen ovale, Contracture of the proximal interphalangeal joint of the 4th...	ORPHA:457279
Acquired Methemoglobinemia	Dyspnea, Respiratory distress	ORPHA:464453
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Polyhydramnios, Hammertoe, Hydrocephalus, Coxa valga	OMIM:619833
Developmental And Epileptic Encephalopathy 1	Plagiocephaly	OMIM:308350
Japanese Encephalitis	Focal T2 hyperintense thalamic lesion, Respiratory distress, Abnormal thalamus morphology, Inappr...	ORPHA:79139
Esophageal Atresia	Maternal diabetes, Respiratory distress, Barrett esophagus, Choanal atresia, Tracheoesophageal fi...	ORPHA:1199
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly, Tetralogy of Fallot, Chorioretinal coloboma, Umbilical hernia, ...	OMIM:107480
Apc-Related Attenuated Familial Adenomatous Polyposis	Supernumerary tooth, Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical adenoma, Odonto...	ORPHA:247806
2Q23.1 Microdeletion Syndrome	Brachycephaly, Short palm, Clinodactyly of the 5th finger, Sandal gap	ORPHA:228402
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, Long fingers, Tapered finger, 2-3 toe syndactyly	OMIM:218000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Brachycephaly, Coxa valga	OMIM:109120
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Aplasia of the epiglottis, Dilated third ventricle, Bilateral cryptorchidism...	ORPHA:434179
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thin vermilion border, Conical incisor, Maxillary lateral incisor microdontia, Micrognathia, Hypo...	ORPHA:73223
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly	OMIM:618731
19P13.13 Microdeletion Syndrome	Brachycephaly, Syringomyelia, Sandal gap, Increased nuchal translucency, Long fingers, Dolichocep...	ORPHA:357001
Trisomy 20P	Brachycephaly, Plagiocephaly, Finger syndactyly, Spina bifida, Frontal bossing, Camptodactyly of ...	ORPHA:261318
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring, Downturned corners of mouth, Hypertelorism, Broad nasal tip, Wide mouth, Deeply se...	ORPHA:466943
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly, Rocker bottom foot, Polyhydramnios, Radial deviation of the hand, Talipes equinovarus	OMIM:301041
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Cleft lip, Notched primary central incisor, Depressed nasal bridge	OMIM:620519
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Wide nasal base, Long philtrum, Tooth malposition, Cyst of the ductus choledochu...	ORPHA:480880
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Brachydactyly, Patent ductus arteriosus, Craniosynostosis, Atrial septal defect, V...	ORPHA:457193
Odontoonychodermal Dysplasia	Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t...	OMIM:257980
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Polyhydramnios, Clinodactyly of the 5th finger, Neonatal death, Talipes equinovarus	OMIM:619859
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Micrognathia, Bulbous nose, Trismus	OMIM:616271
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Respiratory distress, Median cleft upper lip, Hyp...	OMIM:617088
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Hydrocephalus, Cloverleaf skull, Shortening of all middle phalanges...	OMIM:101600
Holocarboxylase Synthetase Deficiency	Tachypnea, Respiratory distress	ORPHA:79242
Cryptogenic Organizing Pneumonia	Dyspnea, Respiratory distress	ORPHA:1302
Stevenson-Carey Syndrome	Brachycephaly, Atrial septal defect, Camptodactyly	OMIM:611961
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Brachycephaly, Atrioventricular canal defect, Spina bifida occul...	ORPHA:500
Xq28 (MECP2) duplication	Brachycephaly	DECIPHER:45
Al Kaissi Syndrome	Brachycephaly, Atrial septal defect, Clinodactyly, Small hand	OMIM:617694
Martsolf Syndrome 1	Brachycephaly, Slender ulna, Talipes equinovarus, Cardiomyopathy, Short metacarpal, Osteopathia s...	OMIM:212720
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Proximal placement of thumb, Pulmon...	OMIM:610759
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Tapered distal phalanges of finger, Frontal bossing, Arachnodactyly, Talipes equin...	ORPHA:371364
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Cornelia De Lange Syndrome 6	Short nose, Anteverted nares, Long philtrum, Cleft lip, Hypertelorism, Macrodontia of permanent m...	OMIM:620568
Antley-Bixler Syndrome	Brachycephaly, Turricephaly, Femoral bowing, Frontal bossing, Arachnodactyly, Camptodactyly of fi...	ORPHA:83
Choanal Atresia	Nasal congestion, Chronic sinusitis, Respiratory distress	ORPHA:137914
Rothmund-Thomson Syndrome	Supernumerary tooth, Delayed eruption of teeth, Abnormal dental enamel morphology, Selective toot...	ORPHA:2909
Cerebellofaciodental Syndrome	Dental malocclusion, Cryptorchidism, Macrodontia of permanent maxillary central incisor, Taurodontia	OMIM:616202
Multicentric Osteolysis, Nodulosis, And Arthropathy	Brachycephaly, Metacarpal osteolysis, Thin metacarpal cortices, Carpal osteolysis, Thin metatarsa...	OMIM:259600
Meconium Aspiration Syndrome	Maternal diabetes, Respiratory distress	ORPHA:70588
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Frontal bossing, Polyhydramnios, Plagiocephaly	OMIM:617296
Biotinidase Deficiency	Optic atrophy, Respiratory distress, Optic neuropathy, Apnea, Myelopathy, Hyperventilation	ORPHA:79241
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Plagiocephaly, Polyhydramnios, Congenital finger flexion contractures, Patent...	ORPHA:363528
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly, Muscular ventricular septal defect, Spina bifida occulta	OMIM:619227
Adnp Syndrome	Advanced eruption of teeth, Thick lower lip vermilion, Respiratory distress, Smooth philtrum, Rec...	ORPHA:404448
Sweeney-Cox Syndrome	Brachycephaly, Polyhydramnios, Patent foramen ovale, 2-5 toe syndactyly, Bilateral talipes equino...	OMIM:617746
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Short nose, Respiratory distress, Hydrocephalus, Thick vermilion border, Macroglossia	ORPHA:505248
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Plagiocephaly, Atrioventricular canal defect, Tethered cord, Spina bifida, Frontal bossing, Dolic...	OMIM:619480
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Respiratory d...	ORPHA:209905
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Malan Overgrowth Syndrome	Frontal bossing, Plagiocephaly, Scaphocephaly	ORPHA:420179
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Aganglionic megacolon, Respiratory distress, Tracheoesophageal fistula, Anal at...	ORPHA:210122
Cartilage-Hair Hypoplasia	Brachycephaly, Abnormal metaphysis morphology, Diaphyseal undertubulation, Rhizomelia, Abnormal d...	ORPHA:175
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Polyhydramnios, Turricephaly, Hydrocephalus, Frontal bossing, Tapered finger, Tali...	OMIM:613603
N-Acetylglutamate Synthase Deficiency	Tachypnea, Respiratory distress	OMIM:237310
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect, Brachycephaly	OMIM:618798
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly, Clinodactyly of the 5th finger	ORPHA:1173
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Bilateral choanal atresia, Wide nose, Underdeveloped nasal alae, Ankylogloss...	OMIM:619525
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Wide nose, Respiratory distress, Hydrocephalus, Abnormal dental enamel morphology, ...	ORPHA:2556
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Brachycephaly, Hypoplasia of the ulna, Lambdoidal craniosynostosis, Restrictive cardiomyopathy, P...	OMIM:615398
Neuroblastoma	Elevated circulating catecholamine level, Proptosis, Horner syndrome, Respiratory distress	ORPHA:635
Acrofrontofacionasal Dysostosis 2	Brachycephaly, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly	OMIM:239710
Faciocardiorenal Syndrome	Plagiocephaly, Tricuspid valve prolapse, Endocardial fibroelastosis	ORPHA:1973
Chopra-Amiel-Gordon Syndrome	Brachycephaly	OMIM:619504
Acrofrontofacionasal Dysostosis	Brachycephaly, Micromelia, Broad thumb, Camptodactyly of finger, Brachydactyly, Short distal phal...	ORPHA:1784
Norrie Disease	Optic atrophy, Thin vermilion border, Delayed puberty, Hypotelorism, Narrow nasal bridge, Cryptor...	ORPHA:649
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Clinodactyly of the 5th finger	OMIM:618828
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly, Small hand	OMIM:620149
Triosephosphate Isomerase Deficiency	Cholelithiasis, Respiratory distress, Death in adolescence, Death in infancy, Optic disc pallor	OMIM:615512
Frontofacionasal Dysplasia	Brachycephaly, Encephalocele	ORPHA:1791
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Tricuspid valve prolapse, Camptodactyly of finger, Dolichocephaly, Umbilical herni...	ORPHA:1101
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly, Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgus deformity, C...	ORPHA:562528
Weill-Marchesani Syndrome 1	Brachycephaly, Broad phalanges of the hand, Broad skull, Broad metatarsal, Broad metacarpals, Pul...	OMIM:277600
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Respiratory distress, Stomatitis, Hydrocephalus, Glossitis, Smooth philtrum	ORPHA:79282
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Tachypnea, Anteriorly placed anus, Episodic tachypnea, Respiratory distress	ORPHA:26793
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Aortic valve stenosis, Tetralogy of Fallot, Flat occiput, Conotruncal defect, Abno...	ORPHA:96147
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Brachycephaly, Encephalocele, Finger syndactyly, Broad thumb, Flat occiput, Broad hallux phalanx,...	ORPHA:2211
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Baller-Gerold Syndrome	Turricephaly, Carpal bone aplasia, Oligodactyly, Brachyturricephaly, Abnormal heart morphology, A...	OMIM:218600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Cholelithiasis, Respiratory distress, Pancreatic hypoplasia, Narrow mouth, Biliary ...	ORPHA:83617
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Low hanging columella, Dental crowding, Talon cusp, Intestina...	ORPHA:353281
Opitz-Kaveggia Syndrome	Plagiocephaly, Radial deviation of finger, Hydrocephalus, Prominent fingertip pads, Split hand, C...	OMIM:305450
Cdags Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Frontal ...	OMIM:603116
Menkes Disease	Brachycephaly, Metaphyseal spurs, Metaphyseal widening	OMIM:309400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Supernumerary tooth, Low hanging columella, Dental crowding, High palate, Talon cu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Supernumerary tooth, Low hanging columella, Dental crowding, High palate, Talon cu...	ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 38	High palate, Everted lower lip vermilion, Downturned corners of mouth, Tented upper lip vermilion...	OMIM:616393
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Cryptorchidism, Supernumerary nipple, Congenital hypothyroidism	ORPHA:2519
Perlman Syndrome	Distal ileal atresia, Everted upper lip vermilion, Long upper lip, Cryptorchidism, Micrognathia, ...	OMIM:267000
Mercury Poisoning	Dyspnea, Respiratory distress	ORPHA:330021
Weill-Marchesani Syndrome 2	Brachycephaly, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the...	OMIM:608328
Humeroradial Synostosis	Brachycephaly, Humeroradial synostosis	OMIM:236400
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
20Q11.2 Microduplication Syndrome	Brachycephaly, Palpebral edema, Clinodactyly of the 5th finger, Trigonocephaly, Short palm, Perio...	ORPHA:363659
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Plagiocephaly, Abnormal parietal bone morphology, Shortening of all distal phalang...	ORPHA:247262
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Stomatitis, Respiratory distress	OMIM:612852
Frontonasal Dysplasia 3	Brachycephaly	OMIM:613456
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Umbilical hernia	OMIM:616579
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Syringomyelia, Clinodactyly of the 5th finger, Tethered cord, Frontal bossing, Sho...	OMIM:616728
Alternating Hemiplegia Of Childhood	Respiratory distress, Exaggerated cupid's bow, Abnormal autonomic nervous system physiology, Down...	ORPHA:2131
7Q31 Microdeletion Syndrome	Plagiocephaly, Clinodactyly of the 2nd finger, Prominent fingertip pads, Patent ductus arteriosus...	ORPHA:251061
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short foot	OMIM:300260
Aymé-Gripp Syndrome	Brachycephaly, Plagiocephaly, Rocker bottom foot, Clinodactyly of the 5th finger, Hydrocephalus, ...	ORPHA:1272
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Hydrocephalus, Cloverleaf skull, Acrobrachycephaly, Finger synda...	ORPHA:87
Saethre-Chotzen Syndrome	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent...	OMIM:101400
Stüve-Wiedemann Syndrome	Respiratory distress, Smooth tongue, Abnormality of the dentition, Abnormal autonomic nervous sys...	ORPHA:3206
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Apnea, Macroglossia, Respiratory distress	OMIM:261740
Microphthalmia, Syndromic 1	Orofacial cleft, High, narrow palate, Aganglionic megacolon, Rectal prolapse, Tooth malposition, ...	OMIM:309800
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Prominent fingertip pads, Clinodactyly of the 5th finger	OMIM:619188
Galloway-Mowat Syndrome 4	Plagiocephaly, Tapered finger	OMIM:617730
Kleefstra Syndrome 1	Brachycephaly, Conotruncal defect, Talipes equinovarus, Brachydactyly	OMIM:610253
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Frank-Ter Haar Syndrome	Brachycephaly, Flat occiput, Flared metaphysis, Patent foramen ovale, Bowing of the long bones, C...	OMIM:249420
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly, Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Po...	OMIM:265380
Au-Kline Syndrome	Plagiocephaly, Syringomyelia, Clinodactyly of the 5th finger, Lipomyelomeningocele, Postaxial pol...	OMIM:616580
Cerebrooculonasal Syndrome	Brachycephaly, Postaxial hand polydactyly	ORPHA:66625
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly, Broad distal phalanx of finger, Proximal placement of thumb, Enlarged interphalang...	ORPHA:2988
Distal Deletion 3P	Brachycephaly, Atrioventricular canal defect, Clinodactyly of the 5th finger, Postaxial hand poly...	ORPHA:1620
Branchiooculofacial Syndrome	Branchial anomaly, Low posterior hairline, Retinal coloboma, Intrauterine growth retardation, Sho...	OMIM:113620
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly, Sandal gap, Micromelia, Broad hallux, Syndactyly, Brachydactyly	OMIM:614800
Cerebrooculonasal Syndrome	Brachycephaly, Proboscis, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial pol...	OMIM:605627
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Abnormality of the endocrine system, Respiratory distress, Thyroiditis, Abnormal intes...	ORPHA:37042
Hamamy Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Long toe, Short 2nd finger, Long fingers, Syndacty...	OMIM:611174
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Plagiocephaly, Genu valgum, Metatarsus adductus, Flat occiput, Sho...	ORPHA:300570
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly	OMIM:612379
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Brachycephaly, Plagiocephaly, Hydrocephalus, Short foot, Small hand	ORPHA:500055
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Respiratory distress, Anteverted nares, Open mouth, ...	OMIM:615273
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Abnormal femur morphology, Abnormal fibula morphology	ORPHA:2063
Trisomy 9P	Brachycephaly, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:236
Acrodysostosis 1 With Or Without Hormone Resistance	Brachycephaly, Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalu...	OMIM:101800
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Short foot, Sandal gap, Small hand	OMIM:618885
Momo Syndrome	Brachycephaly, Frontal bossing, Large hands	OMIM:157980
Cranioectodermal Dysplasia 2	Polydactyly, Plagiocephaly, Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Rhizomelia...	OMIM:613610
Dihydropyrimidinase Deficiency	Plagiocephaly, Short phalanx of finger, Talipes equinovarus	OMIM:222748
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Plagiocephaly, Contracture of the proximal interphalangeal joint of the 5th finger...	OMIM:280000
Alg9-Cdg	Brachycephaly, Atrial septal defect, Hydrops fetalis, Rhizomelia, Abnormal left ventricular outfl...	ORPHA:79328
Down Syndrome	Brachycephaly, Atrioventricular canal defect, Patent ductus arteriosus, Sandal gap, Patent forame...	OMIM:190685
White-Sutton Syndrome	Brachycephaly, Patent foramen ovale, Broad thumb, Brachydactyly, Patent ductus arteriosus, Atrial...	OMIM:616364
Loeys-Dietz Syndrome 5	Brachycephaly, Flexion contracture of toe, Patent foramen ovale, Bilateral coxa valga, Congenital...	OMIM:615582
Fucosidosis	Cardiomegaly, Brachycephaly	ORPHA:349
Carpenter Syndrome 2	Trigonocephaly, Broad thumb, Umbilical hernia, Craniosynostosis, Transposition of the great arter...	OMIM:614976
X-Linked Intellectual Disability, Wilson Type	Brachycephaly	ORPHA:85290
Chromosome 2P16.1-P15 Deletion Syndrome	Brachycephaly, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Arachnodactyly	OMIM:612513
9P13 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Umbilical hernia	ORPHA:324313
Cryptococcosis	Abnormal cranial nerve morphology, Dyspnea, Hydrocephalus, Respiratory distress	ORPHA:1546
Farber Disease	Respiratory distress, Recurrent upper respiratory tract infections	ORPHA:333
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Respirator...	OMIM:618733
De Barsy Syndrome	Brachycephaly, Coxa vara, Umbilical hernia, Patent ductus arteriosus, Adducted thumb, Ventricular...	ORPHA:2962
Den Hoed-De Boer-Voisin Syndrome	Brachycephaly, Sandal gap, 2-3 toe syndactyly, Ventricular septal defect, Oligohydramnios, Short ...	OMIM:619229
Cree Mental Retardation Syndrome	Brachycephaly, Cutaneous finger syndactyly, Rocker bottom foot	OMIM:606851
Craniofrontonasal Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Coronal craniosynostosis, Frontal bossing, Broad h...	OMIM:304110
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:79444
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Plagiocephaly, Polyhydramnios, Fibular bowing, Clinodactyly of the 5th finger, Bil...	OMIM:618268
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly, Clinodactyly of the 5th finger, Bilateral talipes equinovarus, Broad...	OMIM:620224
Cardiomyopathy, Familial Hypertrophic, 4	Dyspnea, Respiratory distress	OMIM:115197
Lig4 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Biparietal narrowing	ORPHA:99812
Ulbright-Hodes Syndrome	Thin vermilion border, Maternal diabetes, Respiratory distress, Long upper lip, Narrow mouth, Hig...	ORPHA:3404
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Respiratory distress, Death in infancy, Apnea, Hypopnea	OMIM:618426
Intellectual Developmental Disorder, Autosomal Dominant 1	Brachycephaly, Clinodactyly of the 5th finger, Sandal gap, Frontal bossing, Short palm, Short mid...	OMIM:156200
Alg12-Cdg	Posterior plagiocephaly, Muscular ventricular septal defect, Polyhydramnios, Proximal placement o...	ORPHA:79324
Congenital Enterovirus Infection	Respiratory distress	ORPHA:292
48,Xxxy Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Coxa valga, Radioulnar synostosis, Talipes equinov...	ORPHA:96263
Bacterial Toxic-Shock Syndrome	Sinusitis, Tachypnea, Respiratory distress	ORPHA:36234
Down Syndrome	Brachycephaly, Atrioventricular canal defect, Clinodactyly of the 5th finger, Sandal gap, Secundu...	ORPHA:870
Oculopharyngodistal Myopathy 1	Facial palsy, High palate, Respiratory distress	OMIM:164310
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Clinodactyly of the 5th toe, Short fifth metatarsal, 2-3 toe syndactyly, Clinodact...	OMIM:261990
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal finger morphology, Cranial asymmetry, Abnormal toe morphology	OMIM:163200
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Polyhydramnios, Sandal gap, Metatarsus adductus, Camptodactyly of finger, Toe clin...	ORPHA:261349
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Brachycephaly, Fibular hypoplasia, Preaxial polydactyly, Decreased calvarial ossification, Fronta...	OMIM:617925
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Clinodactyly of the 5th finger, Clubbing of fingers, Tethered cord, Arachnodactyly...	OMIM:620083
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Hydrops fetalis, Disproportionate shortening of the tibia, Postaxial polysyndactyl...	OMIM:263520
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Short foot, Hypertrophic cardiomyopathy	OMIM:615471
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Brachycephaly	OMIM:618797
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Bowing o...	OMIM:156400
Dysostosis, Stanescu Type	Brachycephaly, Abnormal metaphysis morphology, Bowing of the long bones, Micromelia, Brachydactyly	ORPHA:1798
Momo Syndrome	Brachycephaly, Frontal bossing, Femoral bowing, Large hands	ORPHA:2563
Kleefstra Syndrome	Brachycephaly, Tetralogy of Fallot, Bicuspid aortic valve, Ventricular septal defect, Talipes equ...	ORPHA:261494
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,...	OMIM:150400
Hunter-Macdonald Syndrome	Brachycephaly, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly, Umbilical herni...	OMIM:611962
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Turricephaly, Proximal tibial and fibular fusion, Femoral bowing, Short metac...	ORPHA:95699
Mosaic Variegated Aneuploidy Syndrome 1	Brachycephaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Oligohydramnios	OMIM:257300
Joubert Syndrome 1	Plagiocephaly, Postaxial hand polydactyly, Occipital myelomeningocele, Clinodactyly, Postaxial fo...	OMIM:213300
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly, Patellar hypoplasia, Bilateral coxa valga, Patellar aplasia, Patent...	ORPHA:495818
Congenital Disorder Of Glycosylation, Type Iia	Brachycephaly, Ventricular septal defect, Proximal placement of thumb, Coxa valga	OMIM:212066
Mosaic Trisomy 20	Abnormal mitral valve morphology, Abnormal spinal cord morphology, Dysplastic tricuspid valve, Cr...	ORPHA:1724
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Respiratory distress, Hydrocephalus, Posteriorly placed anus, Myelomeningoce...	OMIM:306955
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Respiratory distress	ORPHA:308552
Fibrochondrogenesis	Abnormal metaphysis morphology, Plagiocephaly, Abnormal diaphysis morphology, Micromelia, Camptod...	ORPHA:2021
Roberts Syndrome	Brachycephaly, Hypoplasia of the radius, Polyhydramnios, Mesomelic arm shortening, Radial deviati...	ORPHA:3103
Marshall Syndrome	Brachycephaly, Frontal bossing, Thickened calvaria, Genu valgum	ORPHA:560
Surfactant Metabolism Dysfunction, Pulmonary, 2	Tachypnea, Dyspnea, Respiratory distress	OMIM:610913
Warburg Micro Syndrome 3	Brachycephaly, Clinodactyly of the 5th finger	OMIM:614222
Gorlin Syndrome	Brachycephaly, Hydrocephalus, Cardiac fibroma, Frontal bossing, Arachnodactyly, Brachydactyly	ORPHA:377
Microgastria-Limb Reduction Defect Syndrome	Plagiocephaly, Abnormal metacarpal morphology, Abnormal finger morphology, Truncus arteriosus, Ol...	ORPHA:2538
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Lacrimal gland aplasia, Conical incisor, Xerostomia, Aplasia of the paro...	OMIM:149730
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Orofacial cleft, Apnea, Respiratory distress	ORPHA:17
7Q11.23 Microduplication Syndrome	Brachycephaly, Hydrocephalus, Aortic valve stenosis, Long fingers, Dolichocephaly, Patent ductus ...	ORPHA:96121
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Postaxial hand polydactyly, Brachydactyly, Clinodactyly of the 5th finger	ORPHA:2916
Alpha-Mannosidosis, Infantile Form	Brachycephaly, Cranial hyperostosis, Genu valgum, Bilateral coxa valga, Communicating hydrocephal...	ORPHA:309282
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Plagiocephaly, Tarsal synostosis, Parietal foramina, Coronal craniosynostosis, Fro...	ORPHA:85199
Duane Retraction Syndrome	Plagiocephaly, Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Aplasia/Hypop...	ORPHA:233
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Respiratory distress, Pheochromocytoma, Parathyroid hyperplasia, Carc...	ORPHA:805
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, Upper limb undergrowth, Restrictive cardiomyopathy, Abnormal heart morphology, Pat...	ORPHA:369837
Warburg Micro Syndrome 4	Brachycephaly	OMIM:615663
Angelman Syndrome	Flat occiput, Brachycephaly	OMIM:105830
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Patent ductus art...	OMIM:164210
Lujo Hemorrhagic Fever	Rhinitis, Respiratory distress	ORPHA:319213
Witteveen-Kolk Syndrome	Intrauterine growth retardation, Branchial fistula, Iris coloboma	OMIM:613406
Osteogenesis Imperfecta, Type Xi	Brachycephaly, Coxa vara	OMIM:610968
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Brachycephaly, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Ulnar deviation of...	ORPHA:456312
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Finger syndactyly, Umbilical hernia, Tetralogy of ...	ORPHA:1519
Ethylene Glycol Poisoning	Gastritis, Facial palsy, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress	ORPHA:31826
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:79443
Warburg Micro Syndrome 2	Brachycephaly, Clinodactyly of the 5th toe, Overlapping toe, Clinodactyly of the 4th toe	OMIM:614225
Cartilage-Hair Hypoplasia	Brachycephaly, Metaphyseal cupping, Femoral bowing, Coxa vara, Short palm, Metaphyseal widening, ...	OMIM:250250
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Brachycephaly, Polyhydramnios, Hyperextensibility of the finger joints, Postaxial hand polydactyl...	OMIM:213980
Igg4-Related Thyroid Disease	Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita...	ORPHA:64744
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Brachycephaly, Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic sten...	OMIM:618223
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress	OMIM:620306
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Tibial bowing, Prominent calcane...	ORPHA:96334
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly	ORPHA:88628
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, Tapered finger, Talipes equinovarus, Abnormal cardiac septum morphology	OMIM:254940
Turnpenny-Fry Syndrome	Brachycephaly, Plagiocephaly, Tricuspid valve prolapse, Polyhydramnios, Tapered finger, Overlappi...	OMIM:618371
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Adenylosuccinase Deficiency	Brachycephaly	OMIM:103050
Glycogen Storage Disease Due To Acid Maltase Deficiency	Orthopnea, Macroglossia, Exertional dyspnea, Respiratory distress	ORPHA:365
Fontaine Progeroid Syndrome	Brachycephaly, Turricephaly, Patent ductus arteriosus, Hydrocephalus, Absent distal phalanges, Um...	OMIM:612289
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Plagiocephaly	OMIM:618644
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Dyspnea, Esophageal stricture, Enamel hypoplasia, Abnormal oral mucosa morp...	ORPHA:79404
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
X-Linked Cerebral Adrenoleukodystrophy	Abnormal spinal cord morphology, Myelopathy	ORPHA:139396
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, Hyperextensibility of the finger joints, Long fingers, Long hallux, Thickened calv...	OMIM:309583
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Frontal bossing, Plagiocephaly	OMIM:617193
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly	OMIM:618106
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Cerebral edema, Myelitis	ORPHA:83597
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Prominent nose, Hypertelorism, Narrow mouth, Respiratory distress	OMIM:614748
Septopreoptic Holoprosencephaly	Central diabetes insipidus, Anterior hypopituitarism, Ethmoidal encephalocele, Precocious puberty...	ORPHA:280195
Kaufman Oculocerebrofacial Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Metatarsus adductus, Atrial septal defect, Ventric...	OMIM:244450
Linear Nevus Sebaceus Syndrome	Frontal bossing, Plagiocephaly, Biparietal narrowing, Prominent occiput	ORPHA:2612
Cocaine Intoxication	Respiratory distress, Colitis, Intestinal perforation, Tachypnea, Hyperventilation	ORPHA:90068
Sepsis In Premature Infants	Enterocolitis, Dyspnea, Nasal flaring	ORPHA:90051
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Dyspnea, Apnea, Episodic respiratory distress, Hyperventilation	ORPHA:255210
Cerebrofaciothoracic Dysplasia	Brachycephaly, Polyhydramnios	ORPHA:1394
Osteogenesis Imperfecta	Abnormal endocardium morphology, Brachycephaly, Syringomyelia, Genu valgum, Abnormal tibia morpho...	ORPHA:666
Shwachman-Diamond Syndrome 1	Steatorrhea, Respiratory distress	OMIM:260400
White-Sutton Syndrome	Brachycephaly, Abnormal heart morphology	ORPHA:468678
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Plagiocephaly, Polyhydramnios	ORPHA:496641
Peters Plus Syndrome	Brachycephaly, Polyhydramnios, Rhizomelia, Patent ductus arteriosus, Spina bifida occulta, Clinod...	ORPHA:709
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly, Triphalangeal thumb, Abnormal metacarpal morphology, Abnormal dista...	ORPHA:2673
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Ebstein anomaly of the tricuspid valve	OMIM:608980
Cornelia De Lange Syndrome 1	Brachycephaly, Hypoplasia of the radius, Clinodactyly of the 5th finger, Proximal placement of th...	OMIM:122470
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly	OMIM:619244
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Retrognathia, Hyperinsulinemia, R...	ORPHA:79318
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Broad thumb, Frontal bossing, Camptodactyly of finger, Tapered finger	ORPHA:1236
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Toxic Epidermal Necrolysis	Intestinal perforation, Tracheoesophageal fistula, Respiratory distress	ORPHA:537
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Proximal radio-ulnar synostosis, Large hands	ORPHA:2062
Acromelic Frontonasal Dysostosis	Brachycephaly, Patellar hypoplasia, Encephalocele, Parietal foramina, Mesomelic leg shortening, S...	OMIM:603671
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly, Long fingers	OMIM:156610
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Increased femoral anteversion, Frontal bossing, Dolichocephaly, Plagiocephaly	OMIM:619005
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly, Rocker bottom foot, Camptodactyly, Brachydactyly, Finger clinodactyly, Tapered finger	OMIM:601353
Congenital Tracheal Stenosis	Respiratory distress, Meckel diverticulum, Dyspnea, Anal atresia, Tracheoesophageal fistula, Duod...	ORPHA:141127
Coccidioidomycosis	Hydrocephalus, Respiratory distress, Abnormality of the endocrine system	ORPHA:228123
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly, Tapered finger, Ascites	OMIM:301072
Ayme-Gripp Syndrome	Brachycephaly, Camptodactyly, Pericarditis, Brachydactyly, Radioulnar synostosis, Craniofacial as...	OMIM:601088
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Posterior plagiocephaly, Sandal gap, Cutaneous syndactyly, Toe clinodactyly, Front...	OMIM:620330
Gitelman Syndrome	Delayed puberty, Neoplasm of the pancreas, Maternal diabetes, Respiratory distress, Graves diseas...	ORPHA:358
Congenital Tracheomalacia	Esophageal atresia, Intercostal retractions, Dyspnea, Tracheoesophageal fistula, Apnea, Recurrent...	ORPHA:95430
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Sandal gap, Frontal bossing, Cutaneous finger syndactyly, Broad hallux	OMIM:616078
Gapo Syndrome	Frontal bossing, Plagiocephaly, Umbilical hernia	OMIM:230740
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly, Calcaneovalgus deformity, Long fingers, Tapered finger	ORPHA:521445
Q Fever	Respiratory distress	ORPHA:781
Mandibuloacral Dysplasia Progeroid Syndrome	Brachycephaly, Genu valgum, Osteolytic defects of the phalanges of the hand, Sandal gap, Dysplasi...	OMIM:619127
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Plagiocephaly, Tibial torsion, Slender finger, Long fingers, Secundum atrial septal defect, Paten...	OMIM:613355
Branchioskeletogenital Syndrome	Brachycephaly, Upper limb peromelia, Amelia involving the lower limbs, Umbilical hernia, Blepharo...	ORPHA:1299
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Dyspnea, Colitis	ORPHA:3260
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress	OMIM:256810
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Dyspnea, Respiratory distress	ORPHA:340
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, Tricuspid valve prolapse, Arachnodactyly, Mitral valve prolapse, Umbilical hernia,...	OMIM:601776
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Polyhydramnios	OMIM:618548
Listeriosis	Miscarriage, Respiratory distress	ORPHA:533
Roberts-Sc Phocomelia Syndrome	Brachycephaly, Stillbirth, Hypoplasia of the ulna, Polyhydramnios, Radial deviation of finger, Ab...	OMIM:268300
Adrenomyeloneuropathy	Dorsal column degeneration, Abnormal spinal cord morphology, Atrophy of the spinal cord	ORPHA:139399
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Finger syndactyly, Frontal bossing, Brachydactyly,...	ORPHA:1974
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Plagiocephaly	OMIM:300749
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Polyhydramnios, Short metatarsal, Tethered cord, Short metacarpal, Frontal bossing...	OMIM:617157
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Plagiocephaly, Fibular hypoplasia, Patent foramen ovale, Abnormal heart morphology, Hypoplasia of...	ORPHA:444077
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Brachycephaly, Proximal placement of thumb, Ulnar deviation of the 2nd finger, Long fingers, Ulna...	OMIM:616263
Kbg Syndrome	Brachycephaly, Radial deviation of finger, Clinodactyly of the 5th finger, Ulnar deviation of the...	OMIM:148050
X-Linked Intellectual Disability, Snyder Type	Brachycephaly, Camptodactyly, Arachnodactyly, Cerebral edema, Long toe, Slender toe	ORPHA:3063
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Hydrocephalus, Postaxial polydactyly, Broad hallux	ORPHA:457284
Complete Atrioventricular Septal Defect	Tachypnea, Intercostal retractions	ORPHA:1329
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Posterior plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Pr...	OMIM:615873
Chromosome 1P36 Deletion Syndrome, Distal	Brachycephaly, Atrial septal defect, Clinodactyly of the 5th finger, Hydrocephalus, Noncompaction...	OMIM:607872
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of infra-orbital nerve, Abnormality of the sphenoid sinus, ...	ORPHA:449563
X-Linked Intellectual Disability, Armfield Type	Brachycephaly, Abnormal cardiac septum morphology, Patent ductus arteriosus, Short foot, Small hand	ORPHA:85276
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Xerostomia, Intestinal perforation, Oral synechia, Rhinitis, Abnormality of...	ORPHA:95455
Tetrasomy 9P	Clinodactyly of the 5th finger, Dextrocardia, Hydrocephalus, Patent foramen ovale, Abnormal mitra...	ORPHA:3310
Kasabach-Merritt Phenomenon	Hypopnea, Respiratory distress	ORPHA:2330
Monosomy 9P	Brachycephaly, Proximal placement of thumb, Postaxial hand polydactyly, Trigonocephaly, Abnormali...	ORPHA:261112
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Unilateral brachydactyly, Craniosynostosis, Syndactyly, Plagiocephaly	ORPHA:1521
Nocardiosis	Thyroiditis, Abnormality of the adrenal glands, Dyspnea, Respiratory distress	ORPHA:31204
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Plagiocephaly, Palpebral edema, Genu valgum, Hydrocephalus, Tapered distal phalanges of finger, D...	OMIM:619475
1P36 Deletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Abnormal heart valve morphology, Foot polydactyly,...	ORPHA:1606
Acrofrontofacionasal Dysostosis 1	Brachycephaly, Broad thumb, Short metacarpal, Short distal phalanx of finger	OMIM:201180
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly, Camptodactyly	OMIM:601701
Wiedemann-Rautenstrauch Syndrome	Long toe, Hydrocephalus, Dysplastic pulmonary valve, 2-3 toe syndactyly, Cranial asymmetry, Short...	ORPHA:3455
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly, Clinodactyly of the 5th finger, Camptodactyly, Metatarsus adductus, Syndactyly, Sh...	OMIM:227330
Plague	Respiratory distress, Glossitis, Inflammation of the large intestine, Enterocolitis, Ileitis, Cha...	ORPHA:707
Renpenning Syndrome 1	Brachycephaly, Situs inversus totalis, Clinodactyly of the 5th finger, Camptodactyly, Synostosis ...	OMIM:309500
Viss Syndrome	Brachycephaly, Atrial septal defect, Rocker bottom foot, Polyhydramnios, Genu valgum, Patent duct...	OMIM:619472
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly, Finger aplasia	ORPHA:45358
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Hydrocephalus, Bacterial endocarditis, Mitral valve calcification, Aortic valve ca...	ORPHA:2072
Scimitar Syndrome	Respiratory distress	ORPHA:185
Aortic Arch Interruption	Tachypnea, Exertional dyspnea, Respiratory distress	ORPHA:2299
Osteopetrosis With Renal Tubular Acidosis	Brachycephaly, Plagiocephaly, Thickened calvaria, Oligohydramnios	ORPHA:2785
Cornelia De Lange Syndrome	Brachycephaly, Short 1st metacarpal, Proximal placement of thumb, Clinodactyly of the 5th finger,...	ORPHA:199
Liver Disease, Severe Congenital	Left atrial enlargement, Pulmonary edema, Plagiocephaly, Patent ductus arteriosus, Patent foramen...	OMIM:619991
Amoebiasis Due To Free-Living Amoebae	Cerebral edema, Abnormal spinal cord morphology, Myocardial necrosis	ORPHA:68
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Abnormality of the endocrine system, Hypothyroidism, Precocious puberty, Abnormalit...	ORPHA:438213
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Brachycephaly, Long fingers, Prominent fingertip pads, Tapered finger	OMIM:619950
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Secundum atrial septal defect, Patent ductus arteriosus, Finger clinodactyly, Sagi...	OMIM:620455
Congenital Myopathy 13	Brachycephaly, Bilateral talipes equinovarus	OMIM:255995
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Brachycephaly, Carpal bone hypoplasia, Metaphyseal striations, Flared metaphysis, Short femoral n...	OMIM:610442
Superficial Siderosis	Abnormal spinal cord morphology, Atrophy of the spinal cord	ORPHA:247245
Aicardi-Goutières Syndrome	Cardiomegaly, Plagiocephaly, Hypertrophic cardiomyopathy	ORPHA:51
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Cloverleaf skull, Femoral bow...	OMIM:201750
6Q Terminal Deletion Syndrome	Plagiocephaly, Hallux valgus, Dolichocephaly, Clinodactyly	ORPHA:75857
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Tooth agenesis, Recurrent sinusitis, Decre...	ORPHA:64
Aicardi Syndrome	Plagiocephaly, Small hand	ORPHA:50
Faundes-Banka Syndrome	Fetal ascites, Frontal bossing, Flexion contracture of toe, Plagiocephaly	OMIM:619376
Trichorhinophalangeal Syndrome, Type Ii	Plagiocephaly, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand...	OMIM:150230
Igg4-Related Kidney Disease	Sialadenitis, Thyroiditis, Abnormality of the anterior pituitary, Chronic sinusitis	ORPHA:449395
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Long philtrum, Retrognathia, Thin vermilion border, Respiratory distress	ORPHA:99646
Common Variable Immunodeficiency	Brachycephaly	ORPHA:1572
Microphthalmia, Syndromic 6	Brachycephaly, Plagiocephaly, Polydactyly, Lambdoidal craniosynostosis, Clinodactyly of the 5th f...	OMIM:607932
Eisenmenger Syndrome	Exertional dyspnea, Respiratory distress	ORPHA:97214
Leptospirosis	Papilledema, Respiratory distress	ORPHA:509
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Plagiocephaly	ORPHA:3042
Primary Sjögren Syndrome	Abnormal spinal cord morphology, Xerostomia	ORPHA:289390
Generalized Arterial Calcification Of Infancy	Adrenal calcification, Pancreatic calcification, Respiratory distress	ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly	Exertional dyspnea, Apneic episodes in infancy, Paroxysmal dyspnea, Respiratory distress	ORPHA:99125
Mowat-Wilson Syndrome	Adducted thumb, Genu valgum, Hallux valgus, Calcaneovalgus deformity, Camptodactyly, Aortic valve...	ORPHA:2152
Aspartylglucosaminuria	Brachycephaly, Thickened calvaria	OMIM:208400
Primrose Syndrome	Brachycephaly, Short distal phalanx of finger, Genu valgum, Metatarsus adductus	OMIM:259050

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 Disp1

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 Disp1.

No publications found that use IMPC mice or data for Disp1.

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

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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