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:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Holoprosencephaly 5
Semilobar holoprosencephaly, Hypertelorism, Anteverted nares, Holoprosencephaly, Deep philtrum, A... OMIM:609637
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Dyspnea, Gingival fibromatosis, Respiratory dist... ORPHA:1832
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Cerebral white matter atrophy, Short nose, Micrognathia, Death in infancy, ... OMIM:615042
Holoprosencephaly 9
Cryptorchidism, Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Solitary median maxi... OMIM:610829
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Cyclopia, Holoprosencephaly, Pyriform aperture stenosis, Torus p... OMIM:147250
Mental Retardation, Autosomal Recessive 13
Short philtrum, Hypertelorism, Downturned corners of mouth, Hypoplasia of the corpus callosum, Sm... OMIM:613192
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Holoprosencephaly, Deeply set eye, Cleft upper lip, Cleft palate, Microcephaly, H... OMIM:612530
Developmental And Epileptic Encephalopathy 87
Hypertelorism, Bulbous nose, Cerebral atrophy, Wide mouth, U-Shaped upper lip vermilion, High pal... OMIM:618916
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Acalvaria
Spina bifida, Hypertelorism, Holoprosencephaly, Cleft palate, Hydrocephalus, Abnormal lung lobation ORPHA:945
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypertelorism, Wide mouth, Hypopituitarism, Anterior pituitary hypoplasia, Mening... ORPHA:1827
Agnathia-Otocephaly Complex
Mandibular aplasia, Respiratory distress, Narrow mouth, Aglossia, Laryngeal hypoplasia, Holoprose... OMIM:202650
Holoprosencephaly-Caudal Dysgenesis Syndrome
Hypertelorism, Cyclopia, Holoprosencephaly, Proptosis, Abnormality of the diencephalon, Microcephaly ORPHA:2165
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Cleft upper lip, Cleft palate, Hypotelorism, Anterior hypopituitarism... OMIM:601016
Holoprosencephaly 11
Holoprosencephaly, Proptosis, Cleft lip, Cleft palate, Microcephaly, Hypotelorism, Agenesis of co... OMIM:614226
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft lip and palate, Absent nasal septal cartilage, Depresse... OMIM:142946
Microform Holoprosencephaly
Panhypopituitarism, Short philtrum, Maternal diabetes, Short nose, Cyclopia, Holoprosencephaly, H... ORPHA:280200
Chromosome 6Q11-Q14 Deletion Syndrome
Long philtrum, Hypertelorism, Short nose, Thin upper lip vermilion, Broad nasal tip, High palate,... OMIM:613544
Culler-Jones Syndrome
Cryptorchidism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Hypopituitarism, Clef... OMIM:615849
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Short philtrum, Tooth malposition, Micrognathia, Everted lower lip vermilion, Mal... ORPHA:1387
Holoprosencephaly 2
Median cleft lip and palate, Absent nasal septal cartilage, Adrenal hypoplasia, Holoprosencephaly... OMIM:157170
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Microcephaly, Multiple joint contractures OMIM:306990
Holoprosencephaly 3
Cyclopia, Holoprosencephaly, Short columella, Abnormality of the nose, Proptosis, Single naris, S... OMIM:142945
Ane Syndrome
Abnormal response to ACTH stimulation test, Carious teeth, Adrenocorticotropin deficient adrenal ... ORPHA:157954
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Long philtrum, Type I diabetes mellitus, Diabetes insipidus, High palate, Hypotelorism, Microceph... OMIM:618500
Hartsfield Syndrome
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Respiratory insufficiency, Non-midline ... ORPHA:2117
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bulbous nose, Deep philtrum, Mandibular prognathia, Death ... OMIM:618622
Isolated Exencephaly
Maternal diabetes, Abnormality of facial skeleton, Holoprosencephaly, Posterior pituitary agenesi... ORPHA:563612
Prader-Willi Syndrome Due To Translocation
Carious teeth, Downturned corners of mouth, Anterior pituitary hypoplasia, Cerebral cortical atro... ORPHA:177907
Mental Retardation, Autosomal Recessive 5
Short philtrum, Hypertelorism, Underdeveloped nasal alae, Thick upper lip vermilion, Smooth philt... OMIM:611091
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Broad nasal tip, Underdeveloped nasal alae, Hypergonadotropic hypogonadism, Holop... ORPHA:250999
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Abnormal cranial nerve morphology, Narrow mouth, Cyclopia, Respiratory distre... ORPHA:990
Perching Syndrome
High palate, Respiratory distress, Depressed nasal bridge OMIM:617055
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Microretrognathia, Deeply set eye, Abnormality of the dentition, Mic... ORPHA:276422
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly ORPHA:2523
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Deeply set eye, Abnormal pleura mor... ORPHA:2570
Xk Aprosencephaly Syndrome
Narrow mouth, Abnormality of the nares, Anal atresia, Microcephaly, Hypotelorism, Abnormality of ... ORPHA:3469
Hadziselimovic Syndrome
Thick lower lip vermilion, Anteverted nares, Hypoplasia of the corpus callosum, Anal atresia, U-S... OMIM:612946
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Short philtrum, Hypertelorism, Downturned corners of mouth, Hypoplasia of the corpus callosum, De... OMIM:618672
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short philtrum, Hypertelorism, Underdeveloped nasal alae, Micrognathia, Secondary microcephaly, W... OMIM:300986
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Amyotrophy, Hereditary Neuralgic
Narrow mouth, Deeply set eye, Long nasal bridge, Cleft palate, Hypotelorism, Brachial plexus neur... OMIM:162100
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Oral cleft, Peg-shaped maxillary lateral ... ORPHA:199306
Distal Monosomy 7Q36
Cryptorchidism, Bulbous nose, Micrognathia, Holoprosencephaly, Wide mouth, Non-midline cleft lip,... ORPHA:1636
Atkin-Flaitz Syndrome
Hypertelorism, Everted lower lip vermilion, Macroorchidism, Abnormality of the dentition, Thick v... ORPHA:1193
Non-Distal Trisomy 13Q
Long philtrum, Thin vermilion border, Cryptorchidism, Short nose, Micrognathia, Everted lower lip... ORPHA:1702
Aminopterin/Methotrexate Embryofetopathy
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Mandibular prognathi... ORPHA:1908
Tonne-Kalscheuer Syndrome
Cryptorchidism, Hypertelorism, Narrow mouth, Downturned corners of mouth, Micrognathia, Wide nasa... OMIM:300978
Distal Monosomy 13Q
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Iris coloboma, Anenc... ORPHA:1590
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Cryptorchidism, Open mouth, Decreased testicular size, High palate, Micrognathia, Widely-spaced m... OMIM:309580
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Cyclopia, Hydrocephalus, Ventricular septal defect, Holo... OMIM:264480
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Hypoplasia of the corpus callosum, Mandibular prognathia, Cerebral atrophy,... OMIM:618006
Holoprosencephaly 7
Semilobar holoprosencephaly, Median cleft lip and palate, Panhypopituitarism, Absent nasal septal... OMIM:610828
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Secondary microcephaly, Wide nasal bridge, Large beaked nose, Broad secondary alveolar ridge, Hig... ORPHA:3369
Acrocraniofacial Dysostosis
Short philtrum, Micrognathia, Natal tooth, Proptosis, Abnormal auditory evoked potentials, Cleft ... OMIM:201050
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Abnormal periventricular white matter morphology, Cerebral white matter atr... ORPHA:329178
Faciocardiorenal Syndrome
Cryptorchidism, Micrognathia, Wide nasal bridge, Hypodontia, Cleft palate, Hypoplastic philtrum, ... OMIM:227280
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Cerebral atrophy, Wide mouth, Macrodontia of permane... OMIM:600302
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermilion, Abnormality of the d... ORPHA:1515
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Chorioretinal coloboma, Iris coloboma OMIM:611638
Frontoocular Syndrome
Narrow mouth, Micrognathia, Proptosis, Narrow philtrum, High palate, Hypotelorism, Prominent nasa... OMIM:605321
Mohr Syndrome
Accessory oral frenulum, Porencephalic cyst, Agenesis of central incisor, Hypertelorism, Broad na... OMIM:252100
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Hypoplasia of the corpus callosum, Thick vermilion border, Hypotelor... OMIM:618974
Liang-Wang Syndrome
Macroglossia, Hypertelorism, Downturned corners of mouth, Everted lower lip vermilion, Diastema, ... OMIM:618729
Combined Pituitary Hormone Deficiencies, Genetic Forms
Median cleft lip and palate, Decreased circulating ACTH level, Ectopic anterior pituitary gland, ... ORPHA:95494
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, Wide nasal bridge, Broad secondary alveolar ridge, High palate, Hypotelorism OMIM:314320
Orofacial Cleft 15
Cryptorchidism, Agenesis of lateral incisor, Hypertelorism, Bulbous nose, Palate fistula, Bilater... OMIM:616788
Trisomy 18P
Thin vermilion border, Narrow mouth, Hypotelorism, Underdeveloped nasal alae, Micrognathia, Bilat... ORPHA:1715
Weyers Acrofacial Dysostosis
Solitary median maxillary central incisor, Hypotelorism, Conical tooth OMIM:193530
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Wide nasal base, Delayed eruption of teeth, Narrow palate, Micrognathia, Anodontia, Pseudopapille... OMIM:264475
Monosomy 18P
Short philtrum, Carious teeth, Tooth malposition, Downturned corners of mouth, Holoprosencephaly,... ORPHA:1598
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Impaired growth-hormone response to insulin stimulation test, Decr... OMIM:618157
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Hypertelorism, Agenesis of corpus callosum, Bulbous nose, Deeply set eye, Mic... OMIM:612940
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Ventricular septal defect, Coloboma, Absent septum pellucidum OMIM:601357
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Anosmia, Hyposmia, Cleft lip, Hypogonadotropic hypogonadis... OMIM:612702
2Q23.1 Microduplication Syndrome
Bulbous nose, Dental crowding, Abnormality of the dentition, Wide mouth, Prominent nasal tip, Thi... ORPHA:313947
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Facial palsy, Re... OMIM:614399
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Microcephaly, Autosomal Dominant
Microcephaly, Hypotelorism, Increased overbite OMIM:156580
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Long philtrum, Thin vermilion border, Multiple small bowel atresias, Hypertelorism, Cryptorchidis... OMIM:218649
Prader-Willi-Like Syndrome
Cryptorchidism, Downturned corners of mouth, Decreased circulating T4 level, Central hypothyroidi... ORPHA:398073
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Maternal diabetes, Agenesis of corpus callosum, Abnormality of the hypothalamus-p... ORPHA:3157
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Short philtrum, Hypertelorism, Decreased testicular size, Alobar holoprosencephal... OMIM:615433
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Hypertelorism, Bulbous nose, Microcephaly, Hypoplastic philtrum OMIM:616682
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Diabetes insipid... OMIM:182230
6P22 Microdeletion Syndrome
Deeply set eye, Abnormal palate morphology, Hypotelorism, Hydrocephalus ORPHA:251046
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Hypertelorism, Bulbous nose, Underdeveloped nasal alae,... ORPHA:364577
Chitayat Syndrome
Hypertelorism, Respiratory distress, Short columella, Thick vermilion border, Proptosis, Tracheom... OMIM:617180
49,Xxxxy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathi... ORPHA:96264
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Solitary median maxillary central incisor, Cleft upper lip, Cleft palate, High pala... OMIM:602418
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Cyclopia, Ventricular septal defect, Holoprosencep... ORPHA:261236
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Thin vermilion border, Hypertelorism, Respiratory distress, Bulbous nose, Deeply ... ORPHA:261304
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Deeah Syndrome
Long philtrum, Short philtrum, Cryptorchidism, Narrow palate, Narrow mouth, Panhypopituitarism, S... OMIM:619004
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Anosmia, Cleft upper lip, Cleft palate, Hypogonadotropic hypogonadism, Hypotelorism OMIM:244200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Long philtrum, Oligodontia, Short philtrum, Hypoplasia of teeth, Narrow mouth, Downturned corners... ORPHA:391408
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Decreased response to growth hormone stimuation test, Anterior hyp... OMIM:221750
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Mental Retardation, Autosomal Dominant 7
Bulbous nose, Hypotelorism, Micrognathia, Deeply set eye, Smooth philtrum, Thin upper lip vermili... OMIM:614104
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Cyclopia, Ventricular septal defect, Pa... OMIM:301043
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Abnormality of the zygomatic bone, Unilateral cleft lip, Microcephaly, Hyp... ORPHA:2511
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Cerebral cortical atrophy, Micrognathia, Dep... OMIM:618454
Lambotte Syndrome
Semilobar holoprosencephaly, Convex nasal ridge, Hypertelorism, Narrow mouth, Microcephaly, Retro... OMIM:245552
Isolated Trigonocephaly
Hypotelorism, Wide nasal bridge ORPHA:3366
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Downturned corners of mouth, Decreased circulating T4 level, Central hypothyroidi... ORPHA:177901
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypoplasia of the corpus callosum, Deeply set eye, Wide mouth, Microcephaly... OMIM:300934
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Trisomy 18
Camptodactyly of finger, Spina bifida, Atrial septal defect, Hypertelorism, Aplasia/Hypoplasia of... ORPHA:3380
Chromosome 5P13 Duplication Syndrome
Short philtrum, Hypertelorism, Bulbous nose, Proptosis, Wide nasal bridge, High palate, Hypotelor... OMIM:613174
Periventricular Nodular Heterotopia 9
Hypoplasia of the corpus callosum, Polymicrogyria, Gingival overgrowth, High palate, Hypoplastic ... OMIM:618918
Triploidy
Cryptorchidism, Macroglossia, Hypertelorism, Narrow mouth, Aplasia/Hypoplasia of the corpus callo... ORPHA:3376
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Downturned corners of mouth, Decreased circulating T4 level, Central hypothyroidi... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Downturned corners of mouth, Decreased circulating T4 level, Central hypothyroidi... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Downturned corners of mouth, Decreased circulating T4 level, Central hypothyroidi... ORPHA:177904
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Optic nerve hypoplasia, Hypotelorism, Agenesis of corp... OMIM:218670
Holoprosencephaly
Chorioretinal coloboma, Panhypopituitarism, Hypertelorism, Aplasia/Hypoplasia of the corpus callo... ORPHA:2162
Pde4D Haploinsufficiency Syndrome
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Hypertelorism, Cryptorchidism, ... ORPHA:439822
Pallister W Syndrome
Hypertelorism, Agenesis of central incisor, Agenesis of maxillary central incisor, Wide nasal bri... OMIM:311450
Richieri-Costa/Guion-Almeida Syndrome
Deeply set eye, Mandibular prognathia, Cleft palate, Spina bifida occulta, Cleft upper lip, Micro... OMIM:268850
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Absent gallbladder, Holoprosencephaly, Pancreatic aplasia, Solitary ... ORPHA:556955
Fg Syndrome Type 1
Cryptorchidism, Open mouth, Dental crowding, Choanal atresia, Pulmonary arterial hypertension, Hi... ORPHA:93932
Schilbach-Rott Syndrome
Narrow mouth, Micrognathia, Long nose, Prominent nose, Bifid uvula, Microcephaly, Hypotelorism, S... OMIM:164220
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland, Cleft palate OMIM:614880
Ring Chromosome 21 Syndrome
Holoprosencephaly, Microcephaly, Abnormal heart morphology ORPHA:1445
Harrod Syndrome
Cryptorchidism, Malrotation of small bowel, Narrow mouth, Hypotelorism, Long nose, High, narrow p... OMIM:601095
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cyclopia, Holoprosencephaly, Umbilical hernia, Microce... ORPHA:2166
Atkin-Flaitz Syndrome
Hypertelorism, Macroorchidism, Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerate... OMIM:300431
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Hypertelorism, Adrenal hypoplasia, Downturned corners of mouth, Abnormality of th... ORPHA:264200
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Broad philtrum, High, narrow palate, Incisor macrodontia, Thick vermi... ORPHA:166108
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Long philtrum, Respiratory distress, Bulbous nose, Hypoplasia of the corpus callosum, Choanal atr... OMIM:300968
Acrootoocular Syndrome
Wide nasal base, Delayed eruption of teeth, Micrognathia, Dental malocclusion, Grayish enamel, An... ORPHA:2980
Hartsfield Syndrome
Cryptorchidism, Hypertelorism, Cleft palate, Lobar holoprosencephaly, Cleft upper lip, Diabetes i... OMIM:615465
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Hypertelorism, Abnormality of the philtrum, Agenesis ... ORPHA:2919
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, Hypertelorism, Respiratory insufficiency, Tented upper lip vermilion, Wide nasal ... OMIM:618388
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Respiratory insufficiency, Proptosis, Aplasia/Hypoplasia of the lungs, Hydroce... ORPHA:93274
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Macroglossia, Decreased circulating ACTH level, Decreased circulating follicl... ORPHA:226307
Chromosome 13Q14 Deletion Syndrome
Bulbous nose, Hypoplasia of the corpus callosum, Everted lower lip vermilion, Deep philtrum, Thin... OMIM:613884
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Hypotelorism, Microcephaly, Drooling ORPHA:477673
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Microcephaly, Hypotelorism, Drooling, Downturned corners of mouth OMIM:618718
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Respiratory distress ORPHA:171703
Harrod Syndrome
Cryptorchidism, Narrow mouth, Long nose, Cerebral cortical atrophy, High palate, Dental malocclus... ORPHA:2115
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Obstructive sleep apnea, Micrognathia, Cleft palate, High palate, Retrognathia, Hypotelorism, Mic... OMIM:617164
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Short philtrum, Deeply set eye, Long nose, Mandibular prognathia, Thin upper lip ... OMIM:300486
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Myopathy, Hydrocephalus ORPHA:588
Trisomy 13
Long philtrum, Cryptorchidism, Deeply set eye, Abnormality of the dentition, Optic atrophy, Cleft... ORPHA:3378
W Syndrome
Hypertelorism, Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Depressed nasal... ORPHA:2804
Hermansky-Pudlak Syndrome 10
Apnea, Cerebral atrophy, Smooth philtrum, Abnormal pulmonary interstitial morphology, Microcephal... OMIM:617050
Vici Syndrome
Depressed nasal tip, Hypertelorism, Death in infancy, Recurrent respiratory infections, Cerebral ... ORPHA:1493
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Holoprosencephaly, Iris coloboma, Overriding aorta, Microcephaly, Tetralogy of Fallot, ... ORPHA:3186
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Aplasia/Hyp... ORPHA:2759
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
16P11.2P12.2 Microdeletion Syndrome
Sleep apnea, Bulbous nose, Open mouth, Absent nasal bridge, Short nose, Microretrognathia, Deeply... ORPHA:261211
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Cryptorchidism, Hypertelorism, Narrow mouth, Incisor macrod... OMIM:615502
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Pallister-Hall Syndrome
Cryptorchidism, Natal tooth, Choanal atresia, Decreased testicular size, Precocious puberty, Depr... OMIM:146510
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Pachygyria, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Hy... OMIM:619091
Trisomy 1Q
Cryptorchidism, Hypertelorism, Narrow mouth, Agenesis of corpus callosum, Microretrognathia, Anal... ORPHA:261344
Multiple Pterygium-Malignant Hyperthermia Syndrome
Long philtrum, Cryptorchidism, Dyspnea, Narrow mouth, Downturned corners of mouth, Prominence of ... ORPHA:2215
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Short philtrum, Deeply set eye, Microcephaly, Hypotelorism OMIM:603585
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated circulating thyroid-stimulating hormone concentration, Elevated broncho... OMIM:610978
Clark-Baraitser syndrome
Macroorchidism, Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerated median tongue... OMIM:300602
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Abnormal corpus striatum morphology, Respiratory distress, Respiratory ins... ORPHA:238329
Giacheti Syndrome
Hypotelorism OMIM:612917
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Oligodontia, Narrow mouth, Downturned corners of mouth, Micrognathia, Hypoplasia ... OMIM:616817
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Micrognathia, Abnormal palate morphology, Mandibular prognathia, Hypotelorism, Na... ORPHA:3082
Braddock Syndrome
Pulmonary fibrosis, Micrognathia, Neonatal respiratory distress, Laryngeal web, Pulmonary arteria... ORPHA:52047
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Pachygyria, Type II lissencephaly, Hydrocephalus, Myocardial fibrosis, Cong... OMIM:253800
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Prominent metopic ridge OMIM:275595
Trigonocephaly 1
Meckel diverticulum, Microcephaly, Hypotelorism OMIM:190440
Orofaciodigital Syndrome Type 2
Hypoplasia of teeth, Tongue nodules, Natal tooth, Hamartoma of tongue, High palate, Micrognathia,... ORPHA:2751
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Narrow mouth, Micrognathia, Deeply set eye, High palate, Hypotelorism, Malar flat... OMIM:602471
Kennerknecht Syndrome
Convex nasal ridge, Deeply set eye, Hypodontia, Malrotation of colon, High palate, Hypotelorism OMIM:600908
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Depressed nasal tip, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callosu... OMIM:612651
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus, Iris colob... ORPHA:77298
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Aplasia/Hypoplasia of the corp... ORPHA:2409
Odontochondrodysplasia
Delayed eruption of teeth, Respiratory distress, Short nose, Death in infancy, Dentinogenesis imp... ORPHA:166272
Alkuraya-Kucinskas Syndrome
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Short nose, High palate, Hypotelorism, ... OMIM:617822
Mitochondrial Pyruvate Carrier Deficiency
Thin upper lip vermilion, Long philtrum, Progressive microcephaly, Respiratory distress OMIM:614741
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, Short philtrum, Dyspnea, Respiratory distress, Micrognathia, Smooth philtr... ORPHA:2707
Microphthalmia, Syndromic 3
Cryptorchidism, Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Esophageal atresia, An... OMIM:206900
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m... OMIM:300580
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Underdeveloped nasal alae, Mandibular prognathi... ORPHA:2710
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:610680
Bardet-Biedl Syndrome 16
Hypogonadism, Recurrent respiratory infections, Respiratory distress, Bronchiolitis OMIM:615993
Alobar Holoprosencephaly
Central hypothyroidism, Solitary median maxillary central incisor, High palate, Abnormality of th... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Solitary median maxillary central incisor, High palate, Abnormality of th... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Solitary median maxillary central incisor, High palate, Abnormality of th... ORPHA:93924
Semilobar Holoprosencephaly
Central hypothyroidism, Solitary median maxillary central incisor, High palate, Abnormality of th... ORPHA:220386
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Sleep apnea, Narrow mouth, Bulbous nose, Short nose, Micrognathia, Hypoth... OMIM:614114
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Ectopic posterio... ORPHA:67045
Distal Monosomy 10Q
Cavum septum pellucidum, Facial diplegia, Short nose, Micrognathia, Smooth philtrum, Proptosis, W... ORPHA:96148
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Cryptorchidism, Open mouth, Dental crowding, Anterior pituitary hypoplasia, Delayed puberty, High... ORPHA:466791
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central sleep apnea, Downturned corners of mouth, Premature pubarche, Premature a... ORPHA:398079
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Cerebral atrophy, Simplified gyral pattern, Microcephaly, Hypo... OMIM:615760
Craniosynostosis 2
Cleft soft palate, Hypotelorism, Supernumerary tooth OMIM:604757
Pfeiffer Syndrome Type 2
Hypertelorism, Respiratory distress, Short nose, Intestinal malrotation, Choanal atresia, Tracheo... ORPHA:93259
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Underdeveloped nasal alae, Anteverted nares, Incisor macrodontia, Abnormali... ORPHA:438216
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Sleep apnea, El... ORPHA:300373
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Chand Syndrome
Commissural lip pit, Hypertelorism, Agenesis of permanent teeth, Agenesis of maxillary incisor, A... ORPHA:1401
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Short nose, Anterior hypopituitarism, Death in infancy, Microglossia, Pul... OMIM:241800
Hypoglossia With Situs Inversus
Respiratory distress, Narrow mouth, Hypodontia, Upper airway obstruction, Microglossia, High pala... OMIM:612776
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Basal ganglia gliosis, Death in infancy, Respiratory distress OMIM:604377
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Concave nasal ridge, Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response... OMIM:245590
Lissencephaly Syndrome, Norman-Roberts Type
Hypertelorism, Respiratory distress, Agenesis of corpus callosum, Microretrognathia, Hypoplasia o... ORPHA:89844
Holoprosencephaly 1
Single ventricle, Cyclopia, Ethmocephaly, Alobar holoprosencephaly, Microcephaly, Hypotelorism, A... OMIM:236100
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Hypertelorism, Holoprosencephaly, Natal tooth, Hamartoma of tongue, ... OMIM:269860
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Narrow mouth, Abnormal periventricular white matter morphology, Cortical dysplasi... ORPHA:468631
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Saethre-Chotzen Syndrome
Open bite, Cryptorchidism, Convex nasal ridge, Sleep apnea, Narrow palate, Hypertelorism, Hypopla... ORPHA:794
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... OMIM:617395
X-Linked Mandibulofacial Dysostosis
Webbed neck, Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology ORPHA:1131
Idiopathic Bronchiectasis
Respiratory tract infection, Halitosis, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased p... ORPHA:60033
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Hypotelorism ORPHA:1952
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Dyspnea, Respiratory distress, Goiter, Cough, Laryngotracheal steno... ORPHA:142
Camptodactyly Syndrome, Guadalajara, Type Ii
Micrognathia, Long philtrum, Hypotelorism, Microcephaly OMIM:211920
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Depressed nasal bridge, Supernumerary tooth, Bifid uvula, High... OMIM:617412
Cohen Syndrome
Convex nasal ridge, Short philtrum, Open mouth, Micrognathia, Hypoplasia of the maxilla, Macrodon... OMIM:216550
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Dyspnea, Respiratory distress, Pulmonary infiltrates, Parenchymal consolidation,... ORPHA:36238
Orofaciodigital Syndrome Iii
Hypertelorism, Bulbous nose, Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Micr... OMIM:258850
Trichorhinophalangeal Syndrome Type 2
Long philtrum, Bulbous nose, Abnormal palate morphology, Deep philtrum, Abnormality of the dentit... ORPHA:502
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Hypertelorism, Bulbous nose, Wide mouth, Hypodontia, Anterio... ORPHA:3473
Congenital Disorder Of Glycosylation, Type Ie
Hypertelorism, Respiratory distress, Micrognathia, Smooth philtrum, Secondary microcephaly, High,... OMIM:608799
Baller-Gerold Syndrome
Hypertelorism, Narrow mouth, Hypotelorism, Short nose, Micrognathia, Proptosis, Anal atresia, Cle... ORPHA:1225
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... ORPHA:1302
Galloway-Mowat Syndrome
Hiatus hernia, Hypertelorism, Pachygyria, Micrognathia, Abnormality of the dentition, Aqueductal ... ORPHA:2065
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Breast hypoplasia, Hypoplasia of the corpus callosum, Deeply set eye, Narrow nasa... ORPHA:464306
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Deep philtrum, Tented upper lip vermili... ORPHA:314655
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Hypertelorism, Deep philtrum, Diastema, Cleft palate, Microdontia, Optic atrophy OMIM:605282
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Lobulated tongue, Al... OMIM:311200
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Hypertelorism, Respiratory distress, Downturned corners of mouth, Short nose, Pie... OMIM:217980
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Nephrogenic diabetes insipidus, Delayed puberty, Cerebral calcification, Supernume... ORPHA:3145
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:90695
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Hypotelorism, Neonatal respiratory distress OMIM:619053
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Long philtrum, Cavum septum pellucidum, Hypertelorism, Respiratory distress, Short nose, Hypoplas... OMIM:619383
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngeal stridor, Laryngomalaci... OMIM:616202
Hyperphosphatasia With Mental Retardation Syndrome 4
Hypertelorism, Broad nasal tip, Tented upper lip vermilion, Wide nasal bridge, Thin upper lip ver... OMIM:615716
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Respiratory distress, Ventilator dependence with inability to wean, Respiratory fai... ORPHA:254864
Seckel Syndrome 7
Central hypothyroidism, Microcephaly, Hypotelorism, Prominent nose OMIM:614851
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Narrow palate, Narrow mouth, Respiratory distress, Hypertelorism, Choanal atresia... ORPHA:1555
Trichorhinophalangeal Syndrome, Type Iii
Pear-shaped nose, Long philtrum, Underdeveloped nasal alae, Dental crowding, Smooth philtrum, Thi... OMIM:190351
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Sleep apnea, Central sleep apnea, Downturned corners of mouth, Premature pubarche... ORPHA:398069
Lig4 Syndrome
Cryptorchidism, Hypothyroidism, Microcephaly, Hypotelorism, Prominent nose OMIM:606593
Prader-Willi Syndrome
Cryptorchidism, Downturned corners of mouth, Central hypothyroidism, Decreased circulating gonado... ORPHA:739
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Micrognathia, Thick vermi... OMIM:618651
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Conical mandibular incisor, Discolored lateral incisors OMIM:601668
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Maternal Phenylketonuria
Long philtrum, Deviated nasal septum, Anteverted nares, Micrognathia, Hypoplasia of the corpus ca... ORPHA:2209
Jacobsen Syndrome
Cryptorchidism, Hypertelorism, Short nose, Micrognathia, Holoprosencephaly, Recurrent respiratory... OMIM:147791
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Respiratory distress, Hypoplasia of the corpus callosum, Wide nasal bridge, Widely... OMIM:617102
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Dental crowding, Aqueductal stenosis, Shovel-shaped maxillary central incisors... OMIM:600907
Bloom Syndrome
Cryptorchidism, Agenesis of maxillary lateral incisor, Bronchiectasis, Recurrent upper respirator... OMIM:210900
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Hypertelorism, Narrow mouth, Underdeveloped nasal alae, Ma... OMIM:608572
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Cryptorchidism, Respiratory distress, Abnormal periventri... ORPHA:1145
Isolated Brachycephaly
Midface retrusion, Metacarpal synostosis, Brachydactyly, Brachycephaly ORPHA:35099
Retinal Dystrophy With Leukodystrophy
Hypotelorism, Progressive microcephaly, Cleft palate OMIM:618863
Gaucher Disease Type 2
Cough, Recurrent respiratory infections, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Bulbous nose, Unilateral cleft lip, Supernumerary tooth, Spina bifida occulta, High,... ORPHA:1787
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Sleep apnea, Hypertelorism, Bulbous nose, Anteverted nares, Micrognathia, Hypopla... OMIM:616975
Hallermann-Streiff Syndrome
Cryptorchidism, Thin vermilion border, Narrow palate, Narrow mouth, Underdeveloped nasal alae, Na... OMIM:234100
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Long philtrum, Hypertelorism, Bulbous nose, Short nose, Hypoplasia of the corpus callosum, Tented... OMIM:614105
Beare-Stevenson Cutis Gyrata Syndrome
Hypertelorism, Narrow palate, Narrow mouth, Respiratory distress, Agenesis of corpus callosum, Ch... OMIM:123790
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Sleep apn... ORPHA:1452
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Temple-Baraitser Syndrome
Long philtrum, Delayed eruption of teeth, Hypertelorism, Open mouth, Anteverted nares, Everted lo... ORPHA:420561
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Respiratory distress, Snoring, Man... ORPHA:137888
Nance-Horan Syndrome
Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth, Prominent nasal bridge,... ORPHA:627
Marshall Syndrome
Long philtrum, Hypertelorism, Absent frontal sinuses, Short nose, Pierre-Robin sequence, Microgna... OMIM:154780
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Short philtrum, Tented upper lip vermilion, Proptosis, Depressed nasal bridge, Microcephaly, Opti... OMIM:618346
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:300064
Craniopharyngioma
Sleep apnea, Abnormal hypothalamus morphology, Enlarged pituitary gland, Papilledema, Pituitary h... ORPHA:54595
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Convex nasal ridge, Tooth malposition, Broad nasal tip, Hypothyroidism, Deeply se... OMIM:616541
Koolen-De Vries Syndrome
Pear-shaped nose, Cryptorchidism, Narrow palate, Bulbous nose, Open mouth, Hypotelorism, Hypoplas... OMIM:610443
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Microcephaly, Hypotelorism ORPHA:2163
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Macroglossia, Abnormal periventricular white matter morphology, Bulbous nose, Hypoplasia of the c... OMIM:616900
Lethal Recessive Chondrodysplasia
Macroglossia, Micrognathia, Respiratory distress ORPHA:1423
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Moebius Syndrome
Hypertelorism, Respiratory distress, Abnormal nasopharynx morphology, Micrognathia, Decreased tes... OMIM:157900
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Micrognathia, Hyperintensity of cerebral white matter on MRI, Increased circulating prolactin con... ORPHA:502423
Pilodental Dysplasia With Refractive Errors
Conical incisor, Wide nasal bridge, Hypodontia OMIM:262020
Tetrasomy 5P
Long philtrum, Hypertelorism, Respiratory distress, Short nose, Lipoma of corpus callosum, Recurr... ORPHA:3309
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95513
Ring Chromosome 7 Syndrome
Hydrocele testis, Thin vermilion border, Short philtrum, Narrow naris, Narrow mouth, Anteverted n... ORPHA:1449
Intellectual Developmental Disorder, X-Linked 21
Hypertelorism, Short nose, Open mouth, Dental crowding, Mandibular prognathia, Macroorchidism, Te... OMIM:300143
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Long philtrum, ... ORPHA:818
Pfeiffer Syndrome Type 3
Hypertelorism, Respiratory distress, Short nose, Intestinal malrotation, Choanal atresia, Tracheo... ORPHA:93260
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Respiratory distress, Proptosis, Pulmonary hypoplasia, Respiratory failure, Depres... OMIM:617895
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Hypertelorism, Micrognathia, Cleft lip, Cleft palate, Microcephaly, Hypotelorism OMIM:619123
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Widely-spaced maxillary central incisor... ORPHA:363417
Lymphedema, Primary, With Myelodysplasia
Hypotelorism OMIM:614038
Opitz Gbbb Syndrome, Type I
Cryptorchidism, Hypertelorism, Agenesis of corpus callosum, Abnormal nasopharynx morphology, Smoo... OMIM:300000
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Mosaic Trisomy 9
Cryptorchidism, Spina bifida, Hypertelorism, Bulbous nose, Micrognathia, Intestinal malrotation, ... ORPHA:99776
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Spina bifida occulta, Depressed nasal b... OMIM:235510
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Autoimmune Polyendocrinopathy Type 3
Graves disease, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Hashimoto thyroidi... ORPHA:227982
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Aplasia/Hypoplasia of the gallbladder, Intestinal malrotation, Anterior pituitary agenesis, Pancr... ORPHA:2255
Stormorken Syndrome
Deeply set eye, Hypotelorism, Epistaxis, Prominent nose OMIM:185070
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Cranial nerve motor loss, Respiratory insufficiency, Facial palsy,... OMIM:211530
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Abnormality of the sphenoid sinus, Adrenocorticotropin deficient adrenal insu... ORPHA:91350
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Respiratory distress, Decreased circulating T4 level, Elevated circulating ... ORPHA:226313
Short Chain Acyl-Coa Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Respiratory distress ORPHA:26792
Mental Retardation, Autosomal Dominant 38
Downturned corners of mouth, Deeply set eye, Everted lower lip vermilion, Tented upper lip vermil... OMIM:616393
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cryptorchidism, Oligodontia, Narrow mouth, Bulbous nose, High palate, Micrognathia, Depressed nas... OMIM:309590
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Prominent... OMIM:302350
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Meckel Syndrome, Type 1
Cryptorchidism, Natal tooth, Intestinal malrotation, Anencephaly, Lobulated tongue, Cerebral hypo... OMIM:249000
Charge Syndrome
Cryptorchidism, Narrow mouth, Choanal atresia, Respiratory insufficiency, Delayed puberty, Depres... ORPHA:138
Craniosynostosis And Dental Anomalies
Craniosynostosis, Lambdoidal craniosynostosis, Short phalanx of finger, Sagittal craniosynostosis... OMIM:614188
Ulnar-Mammary Syndrome
Anal stenosis, Breast hypoplasia, Axillary apocrine gland hypoplasia, Ectopic posterior pituitary... OMIM:181450
Meconium Aspiration Syndrome
Wheezing, Maternal diabetes, Respiratory distress, Abnormal pulmonary thoracic imaging finding, A... ORPHA:70588
Cutis Laxa, Autosomal Recessive, Type Iiia
Narrow nasal ridge, Cryptorchidism, Hypertelorism, Narrow mouth, Hypotelorism OMIM:219150
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress, Cleft palate ORPHA:66637
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Anteverted nares, Short nose, Deep philtrum, Choanal atresia, Esophageal at... OMIM:610536
Autoimmune Polyendocrinopathy Type 4
Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Chronic atrophic gastritis, Abnorm... ORPHA:227990
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Oral ulcer, Pleural effusion, C... ORPHA:3392
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Carious teeth, Oligodontia, Choanal atresia, Xerostomia, Rectovaginal fistula, Hy... OMIM:129900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Emphysema, Cough, Intestinal malrotation, Deeply set eye, Respiratory insufficiency, C... OMIM:613658
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95512
Gómez-López-Hernández Syndrome
Midface retrusion, Hydrocephalus, Brachycephaly, Turricephaly ORPHA:1532
10Q22.3Q23.3 Microdeletion Syndrome
Hypertelorism, Microretrognathia, Breast aplasia, Intestinal polyposis, Microcephaly, Hypoteloris... ORPHA:276413
Steinfeld Syndrome
Retinal coloboma, Holoprosencephaly, Iris coloboma, Abnormal heart morphology OMIM:184705
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Ramos-Arroyo Syndrome
Long philtrum, Carious teeth, Hypertelorism, Narrow mouth, Respiratory distress, Choanal stenosis... ORPHA:1051
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Cough, Elevated broncho... OMIM:178500
Glutamine Deficiency, Congenital
Apnea, Thin vermilion border, Short nose, Hypoplasia of the corpus callosum, Wide nasal bridge, N... OMIM:610015
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Short philtrum, Narrow palate, Open mouth, Hypoplasia of the corpus callosum, Dee... ORPHA:364028
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Iniencephaly
Spina bifida, Arthrogryposis multiplex congenita, Holoprosencephaly, Spinal dysraphism, Anencepha... ORPHA:63259
Diaphanospondylodysostosis
Hypertelorism, Respiratory distress, Short nose, Depressed nasal ridge, Tracheomalacia, Respirato... OMIM:608022
Mosaic Variegated Aneuploidy Syndrome
Apnea, Abnormal lung lobation, Aplasia/Hypoplasia of the corpus callosum, Depressed nasal ridge, ... ORPHA:1052
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory crackles, Pulmonary fi... ORPHA:2302
Genitourinary And/Or Brain Malformation Syndrome
Long philtrum, Cryptorchidism, Hypertelorism, Agenesis of corpus callosum, Short nose, Absent sep... OMIM:618820
Odontochondrodysplasia 1
Long philtrum, Delayed eruption of teeth, Respiratory distress, Death in infancy, Pulmonary hypop... OMIM:184260
Cog2-Cdg
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... ORPHA:435934
Pallister-Hall Syndrome
Cryptorchidism, Natal tooth, Choanal atresia, Pituitary hypothyroidism, Respiratory insufficiency... ORPHA:672
Oromandibular Dystonia
Respiratory distress, Abnormality of the nose, Impaired mastication, Abnormality of the temporoma... ORPHA:93958
Macrocephaly And Epileptic Encephalopathy
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Abnormality ... OMIM:606369
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Dental crowding, Aqueductal stenosis, Wide nasal bridge, Shovel-shaped maxillary cent... OMIM:600906
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Hypertelorism, Underdeveloped nasal alae, Hypodontia, Wide nas... ORPHA:90024
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Solitary Bone Cyst
Prominent calcaneus, Abnormality of tibia morphology, Muscular edema, Abnormality of the medullar... ORPHA:83468
Keppen-Lubinsky Syndrome
Short philtrum, Open mouth, Underdeveloped nasal alae, Tented upper lip vermilion, Proptosis, Hig... OMIM:614098
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Short philtrum, Short nose, Downturned corners of mouth, Dental crow... OMIM:301044
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Trichorhinophalangeal Syndrome Type 1 And 3
Long philtrum, Bulbous nose, Long upper lip, Abnormality of the dentition, Supernumerary tooth, H... ORPHA:77258
Trichothiodystrophy
Enamel hypoplasia, Cryptorchidism, Carious teeth, Hypertelorism, Bronchospasm, Recurrent bronchop... ORPHA:33364
Orofaciodigital Syndrome Xiv
Cryptorchidism, Micrognathia, Hypoplasia of the corpus callosum, Microretrognathia, Natal tooth, ... OMIM:615948
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism OMIM:616937
Microlissencephaly-Micromelia Syndrome
Long philtrum, Respiratory distress, Abnormal calcium-phosphate regulating hormone level, Short n... ORPHA:50810
Robin Sequence With Cleft Mandible And Limb Anomalies
Abnormal aryepiglottic fold morphology, Narrow mouth, Pierre-Robin sequence, Cleft lower alveolar... OMIM:268305
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... ORPHA:133
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of the dentition, Supernumerary tooth ORPHA:1264
Hereditary Angioedema Type 1
Intestinal edema, Dyspnea, Abnormal soft palate morphology, Respiratory distress, Abnormal respir... ORPHA:100050
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Hyperlysinemia
Smooth philtrum, Pulmonary artery hypoplasia, Recurrent pneumonia, High palate, Hypotelorism, Mic... ORPHA:2203
Gaucher Disease, Perinatal Lethal
Apnea, Hypertelorism, Respiratory distress, Narrow mouth, Open mouth, Short nose, Everted lower l... OMIM:608013
Isolated Sedoheptulokinase Deficiency
Steatorrhea, Subcortical cerebral atrophy, Neonatal asphyxia, Shallow orbits, Hypotelorism, Abnor... ORPHA:440713
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome
Convex nasal ridge, Deep philtrum, Tented upper lip vermilion, Depressed nasal ridge, Malar flatt... ORPHA:2104
Meningioma
Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Hydrocephalus, Abnormality on pu... ORPHA:2495
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Dental crowding, Intestinal malrotation, Micrognathia, Precocious puberty, Hydroc... OMIM:270400
Thyroid Lymphoma
Dyspnea, Respiratory distress, Goiter, Hypothyroidism, Hashimoto thyroiditis, Upper airway obstru... ORPHA:97285
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Succinic Acidemia
Respiratory distress OMIM:600335
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Wide anterior fontanel, Recurrent mandibular subluxations, Everted lower lip v... OMIM:225410
Radio-Renal Syndrome
Convex nasal ridge, Dyspnea, Respiratory distress, Downturned corners of mouth, Pleural effusion,... ORPHA:3015
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed eruption of primary teeth, Narrow palate, Respiratory distress, Hypert... OMIM:119600
Congenital Laryngeal Web
Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Neurogenic Arthrogryposis Multiplex Congenita
Micrognathia, Hypertelorism, Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Duplication Of The Pituitary Gland
Abnormality of the tongue, Abnormality of the pituitary gland, Hypertelorism, Abnormal hypothalam... ORPHA:314621
Distal Monosomy 12Q
Long philtrum, Maturity-onset diabetes of the young, Wide anterior fontanel, Bulbous nose, Annula... ORPHA:96149
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypertelorism, Respiratory... ORPHA:1134
Intellectual Developmental Disorder, Autosomal Dominant 65
Long philtrum, Short philtrum, Bulbous nose, Downturned corners of mouth, Dysgenesis of the hippo... OMIM:619320
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Respiratory distress, Taurodontia, Underdeveloped nasal alae, Short nose, Hypoplas... OMIM:305100
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Hyperphosphatasia With Mental Retardation Syndrome 3
Short nose, Cerebral atrophy, Tented upper lip vermilion, Wide nasal bridge, Cleft palate, Broad ... OMIM:614207
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Thin vermilion border, Maternal diabetes, Convex nasal ridge, Narrow mouth, Respi... OMIM:266910
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Atrial septal defect, Coloboma, Branchial anomaly, Abnormal heart morphology, Ven... ORPHA:453499
Craniofacial Dyssynostosis With Short Stature
Abnormal shape of the occiput, Frontal bossing, Ventricular septal defect, Midface retrusion, Pat... OMIM:218350
Craniosynostosis 6
Craniosynostosis, Plagiocephaly, Delayed cranial suture closure, Brachycephaly, Spina bifida occu... OMIM:616602
Mental Retardation, Autosomal Dominant 36
Hypertelorism, Open mouth, Hypoplasia of the corpus callosum, Tented upper lip vermilion, Microce... OMIM:616362
Kniest Dysplasia
Respiratory distress, Proptosis, Tracheomalacia, Cleft palate, Malar flattening, Depressed nasal ... OMIM:156550
Hennekam Syndrome
Delayed eruption of teeth, Short philtrum, Hypertelorism, Narrow mouth, Abnormality of dental mor... ORPHA:2136
Osteoglophonic Dysplasia
Long philtrum, Cryptorchidism, Hypertelorism, Respiratory distress, Abnormal nasopharynx morpholo... OMIM:166250
Developmental And Epileptic Encephalopathy 80
Long philtrum, Hypertelorism, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... OMIM:618580
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Microdontia, Supernumerary tooth OMIM:191482
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Cavum septum pellucidum, Agenesis of corpus callosum, Respiratory dis... ORPHA:209905
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Hypertelorism, Broad nasal tip, Downturned corners of mouth, Short nose, Mandibul... OMIM:239300
Microtia-Anotia
Holoprosencephaly OMIM:600674
Joubert Syndrome 14
Short philtrum, Hypertelorism, Open mouth, Deeply set eye, Tented upper lip vermilion, Malar flat... OMIM:614424
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Mandibular prognathia, Re... ORPHA:98915
Choanal Atresia
Respiratory distress, Nasal congestion, Abnormal nasal mucus secretion, Tracheomalacia, Laryngoma... ORPHA:137914
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Flat occiput, Brachyceph... OMIM:618736
Crisponi/Cold-Induced Sweating Syndrome 1
Long philtrum, Carious teeth, Dyspnea, Narrow mouth, Trismus, Facial palsy, High palate, Retrogna... OMIM:272430
Keipert Syndrome
Hypertelorism, Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow, Pr... ORPHA:2662
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Cerebra... ORPHA:2177
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Everted lower lip vermilion, Anodontia, Hypodontia, Wide nasal bridge, Microdo... OMIM:218330
Campomelic Dysplasia
Apnea, Hypertelorism, Respiratory distress, Depressed nasal ridge, Tracheobronchomalacia, Cleft p... OMIM:114290
Coffin-Siris Syndrome 1
Cryptorchidism, Intestinal malrotation, Choanal atresia, Spina bifida occulta, High palate, Depre... OMIM:135900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Short nose, Hypoplasia of the corpus callosum, Hypodontia, Microcephaly, Na... ORPHA:544503
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Pentasomy X
Camptodactyly of finger, Radioulnar synostosis, Patent ductus arteriosus, Plagiocephaly, Small ha... ORPHA:11
Monosomy 13Q14
Hypertelorism, Holoprosencephaly, Hypoplasia of the corpus callosum, Wide nasal bridge, Microceph... ORPHA:1587
Scalp-Ear-Nipple Syndrome
Abnormality of the endocrine system, Agenesis of permanent teeth, Short columella, Mandibular pro... OMIM:181270
Potocki-Shaffer Syndrome
Wormian bones, Parietal foramina, Cutaneous syndactyly between fingers 2 and 5, Brachycephaly, Br... OMIM:601224
X-Linked Intellectual Disability, Cantagrel Type
Short philtrum, Short nose, Hypoplasia of the corpus callosum, Tented upper lip vermilion, Cerebr... ORPHA:85277
Charge Syndrome
Cryptorchidism, Choanal atresia, Delayed puberty, Micrognathia, Anal stenosis, Arrhinencephaly, E... OMIM:214800
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Choanal stenosis, Mandibular prognathia, Natal tooth, Choanal at... OMIM:259775
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Respiratory distress, Death in childhood, Microcephaly, Optic atrophy OMIM:615597
Autosomal Recessive Robinow Syndrome
Open bite, Cryptorchidism, Downturned corners of mouth, Death in infancy, Oral cleft, Exaggerated... ORPHA:1507
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Breast hypoplasia... ORPHA:2232
Hallermann-Streiff Syndrome
Abnormality of the tongue, Cryptorchidism, Convex nasal ridge, Narrow mouth, Underdeveloped nasal... ORPHA:2108
Chromosome 15Q11.2 Deletion Syndrome
Slender finger, Abnormal heart morphology, Plagiocephaly OMIM:615656
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent bronchitis, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal ins... ORPHA:293978
Coffin-Siris Syndrome 12
Cryptorchidism, Bulbous nose, Underdeveloped nasal alae, Hippocampal atrophy, High palate, Microg... OMIM:619325
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Intestinal malrotation, Respiratory distress ORPHA:2140
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Flat occiput, Brachycephaly, Plagiocephaly ORPHA:2898
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Bulbous nose, Short nose, Excessive salivation, Everted lower lip vermilion, Mandib... ORPHA:261144
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Open mouth, Choanal atresia, Anencephaly, High palate, Micrognathia, Anal atresia... OMIM:619148
Meckel Syndrome
Cryptorchidism, Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Pancreati... ORPHA:564
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, Tented upper lip vermilion, Wide nasal bridge OMIM:616025
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Prominent nose, Microcephaly, Hypotelorism, Subglottic stenosis ORPHA:319675
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Toe syndactyly, Radioulnar synostosis, Large fontanelles, Short palm, Bowing of... ORPHA:171839
Pituicytoma
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... ORPHA:251623
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Long philtrum, Narrow mouth, Bulbous nose, Mesiodens, Hypoplastic hippocampus, Deeply set eye, Ce... ORPHA:314647
Isolated Plagiocephaly
Midface retrusion, Frontal bossing, Plagiocephaly ORPHA:35098
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:91355
Doors Syndrome
Narrow palate, Bulbous nose, Open mouth, Downturned corners of mouth, Congenital hypothyroidism, ... ORPHA:79500
Microtia
Holoprosencephaly ORPHA:83463
Mental Retardation, Autosomal Dominant 40
Short philtrum, Open mouth, Everted lower lip vermilion, Tented upper lip vermilion, High palate,... OMIM:616579
Smith-Magenis Syndrome
Open mouth, Mandibular prognathia, Abnormal tracheobronchial morphology, Delayed puberty, Microgn... ORPHA:819
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Thin calvarium, Limb undergrowth, Brachycephaly, Brachydactyly, Micromelia OMIM:122900
Autosomal Dominant Robinow Syndrome
Open bite, Cryptorchidism, Oligodontia, Downturned corners of mouth, High, narrow palate, Microgn... ORPHA:3107
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Respiratory distress, Thick vermilion border, Recurrent bronchopulmonary infections... OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Narrow palate, Respiratory distress, Bulbous nose, Respiratory insuff... OMIM:608836
Geleophysic Dysplasia 3
Long philtrum, Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Thick vermilion border, P... OMIM:617809
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Spina bifida occulta, Finger syndactyly ORPHA:1514
Mitochondrial Complex I Deficiency, Nuclear Type 37
Corpus callosum atrophy, Respiratory distress, Cerebral atrophy, Cerebral cortical atrophy, Pulmo... OMIM:619272
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Thin vermilion border, Thick vermilion border, Malar flattening, Supernumerary tooth, Anteverted ... ORPHA:86818
Esophageal Atresia
Laryngotracheomalacia, Intestinal malrotation, Choanal atresia, Maternal diabetes, Respiratory di... ORPHA:1199
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Cryptorchidism, Hypertelorism, Agenesis of permanent teeth, Hypoplasia... OMIM:268400
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Craniosynostosis, Camptodactyly of finger, Finger syndactyly, ... ORPHA:3210
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hypertelorism, Agenesis of corpus callosum, Hypotelorism, Hypergonadotropic hypog... OMIM:227646
Muenke Syndrome
Broad thumb, Short middle phalanx of toe, Midface retrusion, Short middle phalanx of finger, Plag... OMIM:602849
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Pulmonar... ORPHA:70587
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Plagiocephaly, Brachycephaly, Dilated cardiomyopathy, Dolichocephaly, Hy... ORPHA:272
Cerebellar-Facial-Dental Syndrome
Long philtrum, Cryptorchidism, Taurodontia, Hypoplasia of the corpus callosum, Macrodontia of per... ORPHA:444072
Schwartz-Jampel Syndrome
Pursed lips, Narrow mouth, Odontogenic neoplasm, Death in infancy, Respiratory insufficiency, Pul... ORPHA:800
Peters-Plus Syndrome
Long philtrum, Thin vermilion border, Cryptorchidism, Agenesis of maxillary lateral incisor, Wide... OMIM:261540
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Abnormality of the anterior pituitary, Everted lower lip vermilion, Pulmonary arte... ORPHA:75389
Malaria
Respiratory distress ORPHA:673
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Brachycephaly, Arachnodactyly OMIM:614416
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Ctcf-Related Neurodevelopmental Disorder
Cryptorchidism, Thin vermilion border, Narrow mouth, Pulmonary arterial hypertension, Long philtr... ORPHA:363611
Rodrigues Blindness
Nasal flaring, Tooth malposition, Narrow nasal bridge OMIM:268320
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hyperpituitaris... ORPHA:91351
20P13 Microdeletion Syndrome