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Gene: Irx1 MGI:1197515

Gene Summary

Name:

Iroquois homeobox 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal craniofacial morphology	Irx1^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00
decreased locomotor activity	Irx1^{tm1.1(KOMP)Vlcg}	HET	Early adult	2.37×10^-05
abnormal embryo size	Irx1^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00
preweaning lethality, complete penetrance	Irx1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal abdominal wall morphology	Irx1^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00
decreased thigmotaxis	Irx1^{tm1.1(KOMP)Vlcg}	HET	Early adult	3.07×10^-05
embryonic growth retardation	Irx1^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	Section images	heterozygote	100% (2 of 2)
Brainstem	Section images	heterozygote	100% (2 of 2)
Cartilage tissue	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Heart	Section images	heterozygote	0.0% (0 of 2)
Hypothalamus	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Liver	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Mammary gland	Section images	heterozygote	50% (1 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	100% (2 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Pituitary gland	Section images	heterozygote	50% (1 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Small intestine	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thalamus	Section images	heterozygote	100% (2 of 2)
Thymus	Section images	heterozygote	Ambiguous
Trachea	Section images	heterozygote	100% (2 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	Not available
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	Ambiguous
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	Ambiguous
Dorsal root ganglion	N/A	heterozygote	50% (1 of 2)
Dorsal root ganglion	N/A	homozygote	Ambiguous
Ear	N/A	heterozygote	100% (2 of 2)
Ear	N/A	homozygote	Ambiguous
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	Ambiguous
Fronto-nasal process	N/A	heterozygote	Ambiguous
Fronto-nasal process	N/A	homozygote	Ambiguous
Handplate	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	100% (2 of 2)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	Ambiguous
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	100% (2 of 2)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	100% (2 of 2)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	50% (1 of 2)
Nose	N/A	homozygote	Ambiguous
Oral cavity	N/A	heterozygote	Ambiguous
Oral cavity	N/A	homozygote	Ambiguous
Skin	N/A	heterozygote	50% (1 of 2)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	homozygote	Ambiguous
Tail somite	N/A	heterozygote	Ambiguous
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
epididymis	14.29% (21 of 147)
esophagus	1.66% (7 of 422)
eye	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
submandibular gland	1.38% (2 of 145)
testis	1% (6 of 598)
thalamus	0.0%
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
urinary bladder	0.0%
uterus	0.33% (2 of 598)
vascular system	0.0%
vesicular gland	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
dorsal root ganglion	1.67% (1 of 60)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
fronto-nasal process	1.64% (1 of 61)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Adult LacZ

LacZ Images Section

28 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

View images

Gross Morphology Embryo E12.5

Images

6 Images

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Eye Morphology

Images Slit Lamp

2 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images

Eye Morphology

Images Ophthalmoscopy

2 Images

View images

Auditory Brain Stem Response

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

7 Images

View images

Human diseases caused by Irx1 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 Irx1 (0 diseases)
Human diseases predicted to be associated with Irx1 (1266 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Irx1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta...	ORPHA:83450
Dentin Dysplasia, Type I	Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss...	OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Amelogenesis Imperfecta	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa...	ORPHA:88661
Panic Disorder 1	Anxiety	OMIM:167870
Severe Primary Trimethylaminuria	Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity	ORPHA:468726
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Temporomandibular joint ankylosis, Micrognathia, Respiratory distress, Uppe...	ORPHA:141152
Amelogenesis Imperfecta, Type Ij	Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite	OMIM:617297
Mucus Inspissation Of Respiratory Tract	Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection...	OMIM:253240
Ciliary Dyskinesia, Primary, 21	Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re...	OMIM:615294
Dentinogenesis Imperfecta	Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi...	ORPHA:49042
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Otodental Dysplasia	Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age...	OMIM:166750
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op...	OMIM:125500
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta	OMIM:104530
Perching Syndrome	Cyanosis, High palate, Camptodactyly, Respiratory distress, Dysphagia, Joint contracture	OMIM:617055
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Tongue fasciculations, Respiratory failure, Recurrent respiratory infe...	OMIM:253300
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Chronic sinusitis, Atelectasis	OMIM:300455
Bronchopulmonary Dysplasia	Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo...	ORPHA:70589
Asbestos Intoxication	Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Diffuse reticular ...	ORPHA:2302
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel	OMIM:613211
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Mandibular aplasia, Micrognathia, Gingival fibromatosis, Respiratory distress, Medi...	ORPHA:1832
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol...	ORPHA:2972
Auriculocondylar Syndrome 2	Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath...	OMIM:614669
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2027
Obsessive-Compulsive Disorder	Skin-picking, Depression, Anxiety	OMIM:164230
Ciliary Dyskinesia, Primary, 20	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:615067
Dentin Dysplasia With Sclerotic Bones	Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth	OMIM:125440
Dentin Dysplasia, Type Ii	Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth	OMIM:125420
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp...	OMIM:301200
Catifa Syndrome	Long philtrum, Delayed eruption of teeth, Asthma, Camptodactyly, Inguinal hernia, Attention defic...	OMIM:618761
Familial Nasal Acilia	Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp...	ORPHA:922
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Pierre Robin Syndrome	Pierre-Robin sequence, Micrognathia, Upper airway obstruction, Neonatal respiratory distress, Cle...	OMIM:261800
Recurrent Respiratory Papillomatosis	Respiratory insufficiency, Choking episodes, Respiratory distress, Recurrent pneumonia, Upper air...	ORPHA:60032
48,Xyyy Syndrome	Enamel hypoplasia, High palate, Long philtrum, Asthma, Thick lower lip vermilion, Impulsivity, Re...	ORPHA:99329
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Carious teeth	OMIM:226650
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Death in infancy, Delayed eruption of teeth, Respiratory...	ORPHA:166272
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Cleft Lip/Palate	Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat...	ORPHA:199306
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth	ORPHA:71267
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Tongue fasciculations, Respiratory failure, Death in childhood, Joint ...	OMIM:616081
Congenital Myopathy 14	Knee flexion contracture, Flexion contracture, High palate, Hip contracture, Death in infancy, El...	OMIM:618414
Splenogonadal Fusion With Limb Defects And Micrognathia	Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth	OMIM:183300
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:603641
Neuralgic Amyotrophy	Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis	ORPHA:2901
Isolated Pierre Robin Syndrome	Micrognathia, Upper airway obstruction, Neonatal respiratory distress, Cleft palate, Glossoptosis	ORPHA:718
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Cutis marmorata, Thin uppe...	OMIM:619719
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2026
Dentin Dysplasia	Abnormality of dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ...	OMIM:616221
Ectodermal Dysplasia/Short Stature Syndrome	Enamel hypoplasia, Delayed eruption of teeth, Asthma, Hypodontia, Dysphagia	OMIM:616029
Acute Interstitial Pneumonia	Cyanosis, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho...	ORPHA:79126
Gingival Fibromatosis-Facial Dysmorphism Syndrome	High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ...	ORPHA:2025
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Recurrent respiratory infections, Thick vermilion border	ORPHA:363523
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ...	ORPHA:2228
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Surfactant Metabolism Dysfunction, Pulmonary, 3	Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par...	OMIM:610921
Immunodeficiency 95	Respiratory distress, Ground-glass opacification, Respiratory failure, Recurrent viral upper resp...	OMIM:619773
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec...	OMIM:619466
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, High palate, Death in infancy, Respiratory distress, Neonatal death, Atelectasis	OMIM:300219
Amelogenesis Imperfecta, Type Iv	Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:104510
Myasthenic Syndrome, Congenital, 8	Respiratory insufficiency, High palate	OMIM:615120
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Discolored lateral inci...	OMIM:601668
Autosomal Dominant Hyper-Ige Syndrome	Gingivitis, Delayed eruption of teeth, Cellulitis, Cough, Cleft palate, Recurrent respiratory inf...	ORPHA:2314
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Camptodactyly of finger, High palate, Tongue fasciculations, Respirato...	OMIM:614399
Amelogenesis Imperfecta, Type If	Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta	OMIM:616270
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia, Atrophic scars, Death in infancy	OMIM:226700
Intellectual Disability, Birk-Barel Type	Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Hyperactivit...	ORPHA:166108
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Enamel hypoplasia, Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Neonat...	OMIM:226670
Anti-Glomerular Basement Membrane Disease	Respiratory insufficiency, Pulmonary infiltrates, Purpura, Cough, Persistence of primary teeth	ORPHA:375
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth, Death in infancy, Pulmonary ...	OMIM:184260
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth, Scarring alopecia of scalp	OMIM:619787
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita, Natal tooth	OMIM:217150
Pyle Disease	Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absent paranasal s...	OMIM:265900
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Ectodermal dysplasia, Thin upper lip vermilion	OMIM:613576
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy...	OMIM:267450
Lowry-Maclean Syndrome	Cleft palate, Delayed eruption of teeth	OMIM:600252
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi...	OMIM:615872
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp	ORPHA:79402
Congenital Arthrogryposis With Anterior Horn Cell Disease	Retrognathia, High palate, Micrognathia, Respiratory failure, Neonatal death, Arthrogryposis mult...	OMIM:611890
Primary Pulmonary Hypoplasia	Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Micrognathia, Hypoxemia, Pulmonary hypopla...	ORPHA:2257
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Parenchymal c...	OMIM:610978
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel	OMIM:203550
Junctional Epidermolysis Bullosa Inversa	Enamel hypoplasia, Keloids, Atrophic scars, Fragile skin, Oral mucosal blisters, Carious teeth	ORPHA:79405
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Retrognathia, Enamel hypoplasia, High palate	OMIM:617915
Infant Acute Respiratory Distress Syndrome	Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai...	ORPHA:70587
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental...	ORPHA:2325
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth, Recurrent respiratory infections	ORPHA:2643
Atkin-Flaitz Syndrome	Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,...	ORPHA:1193
Trichodental Dysplasia	Conical tooth, Hypodontia, Odontodysplasia	OMIM:601453
17Q11.2 Microduplication Syndrome	Enamel hypoplasia, Malar flattening, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Pilodental Dysplasia With Refractive Errors	Conical incisor, Hypodontia, Ectodermal dysplasia	OMIM:262020
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Idiopathic Chronic Eosinophilic Pneumonia	Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Hypoxemia, Pleura...	ORPHA:2902
Rubinstein-Taybi Syndrome 2	Retrognathia, Dental malocclusion, Talon cusp, Hyperactivity, Narrow palate, High palate, Microgn...	OMIM:613684
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Delayed eruption of teeth	ORPHA:63442
Ciliary Dyskinesia, Primary, 33	Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low...	OMIM:616726
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper res...	OMIM:263000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology	ORPHA:3196
Surfactant Metabolism Dysfunction, Pulmonary, 1	Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Neonatal deat...	OMIM:265120
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Micrognathia, Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Meconium Aspiration Syndrome	Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Abnormal pulmonary thoracic ...	ORPHA:70588
Filippi Syndrome	Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum, Thin vermilion border,...	OMIM:272440
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Late-Onset Junctional Epidermolysis Bullosa	Enamel hypoplasia, Keloids, Atrophic scars, Fragile skin, Oral mucosal blisters, Carious teeth	ORPHA:79406
Waardenburg Syndrome Type 3	Camptodactyly of finger, Acrocyanosis, Tented upper lip vermilion, Tracheomalacia, Atelectasis	ORPHA:896
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Hemifacial Atrophy, Progressive	Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Enamel hypoplasia, Telangiectasia, Facial telangiectasia, Livedo, Carious teeth, Conical incisor	OMIM:614564
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure, Tongue fasciculations	OMIM:600561
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies	Respiratory insufficiency, Distal arthrogryposis, Respiratory failure, Arthrogryposis multiplex c...	OMIM:208081
Self-Improving Dystrophic Epidermolysis Bullosa	Enamel hypoplasia, Atrophic scars, Fragile skin, Oral mucosal blisters, Carious teeth, Generalize...	ORPHA:79411
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Tongue fasciculations, Dysphagia, Tongue atrophy	OMIM:613435
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Enamel hypoplasia, Mandibular prognathia, High palate, Pierre-Robin sequence, Hip contracture, Mi...	OMIM:618363
Lethal Congenital Contracture Syndrome 11	Retrognathia, Pulmonary hypoplasia	OMIM:617194
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory insufficiency, Increased connective tissue, Tongue fasciculations, Respiratory distress	ORPHA:238329
Immunodeficiency 33	Conical tooth, Hypodontia, Delayed eruption of teeth	OMIM:300636
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre...	OMIM:610913
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio...	OMIM:204700
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Enamel hypoplasia, Scarring alopecia of scalp, Fragile skin, Limb joint contr...	ORPHA:251393
Hyperekplexia 4	Distal arthrogryposis, Flexion contracture, High palate, Camptodactyly, Inguinal hernia, Respirat...	OMIM:618011
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l...	OMIM:618729
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, High palate, Delayed eruption of teeth, Micrognathia, Narrow mouth, Ma...	OMIM:613849
Hall-Riggs Mental Retardation Syndrome	Enamel hypoplasia, Thick lower lip vermilion, Microdontia of primary teeth, U-Shaped upper lip ve...	OMIM:234250
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Dyspnea, Cough, Dysphagia, Respiratory failure, Respiratory failure requiri...	ORPHA:90117
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er...	OMIM:273050
Otodental Syndrome	Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul...	ORPHA:2791
Congenital Disorder Of Glycosylation, Type Iy	Micrognathia, Respiratory distress, Wide mouth, Widely spaced teeth	OMIM:300934
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Respiratory insufficiency, Respiratory tract infection, High palate, Neonatal respiratory distres...	OMIM:616326
Brachydactyly, Type E2	Oligodontia, Delayed eruption of teeth	OMIM:613382
Choanal Atresia	Cyanosis, Abnormal nasal mucus secretion, Choking episodes, Respiratory distress, Chronic sinusit...	ORPHA:137914
Muscular Hypertonia, Lethal	Pneumonia, Respiratory distress, Umbilical hernia, Death in infancy	OMIM:254120
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Congenital Disorder Of Glycosylation, Type Iu	High palate, Death in infancy, Micrognathia, Respiratory distress, Thin upper lip vermilion, Neon...	OMIM:615042
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Telangiectasia of the skin, Abno...	ORPHA:3019
Tracheobronchopathia Osteochondroplastica	Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator...	ORPHA:3348
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,...	OMIM:204650
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ...	ORPHA:1028
Ciliary Dyskinesia, Primary, 5	Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,...	OMIM:608647
Clark-Baraitser syndrome	Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi...	OMIM:300602
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea	OMIM:611722
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Intellectual Developmental Disorder, Autosomal Dominant 21	Incisor macrodontia, Long philtrum, Narrow mouth, Thin vermilion border, Cleft palate	OMIM:615502
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon...	ORPHA:3352
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	High palate, Recurrent sinopulmonary infections, Recurrent pneumonia, Persistence of primary teet...	OMIM:147060
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612463
Laryngotracheoesophageal Cleft	Cyanosis, Aspiration, Choking episodes, Impaired oropharyngeal swallow response, Cough, Dyspnea, ...	ORPHA:2004
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Exertional dyspnea, Achilles tendon contracture, Decreased cervical spine flexion due to contract...	ORPHA:254361
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys...	ORPHA:266
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Mulibrey Nanism	Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Hypodontia, Absent frontal s...	OMIM:253250
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Shagreen patch, Delayed eruption of teeth	ORPHA:1816
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory failure, Flexion contracture, Death in adolescence, Respiratory insufficiency due to ...	OMIM:300717
Primary Ciliary Dyskinesia	Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova...	ORPHA:244
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Asthma, Thick lower lip vermilion, Taurodontia, Apnea, Ingu...	ORPHA:10
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Pleural Mesothelioma	Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural...	ORPHA:50251
Nemaline Myopathy 9	Respiratory insufficiency, High palate, Micrognathia, Cleft palate, Arthrogryposis multiplex cong...	OMIM:615731
Bronchogenic Cyst	Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Dyspnea,...	ORPHA:2357
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Central sleep apnea, Open mouth, Macrodontia of permanent maxillary central incisor, Thick vermil...	OMIM:620114
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Respiratory insufficiency, Recurrent respiratory infections, Median cleft palate	ORPHA:2432
Atkin-Flaitz Syndrome	Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi...	OMIM:300431
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Umbilical hernia	OMIM:606893
Cryptogenic Organizing Pneumonia	Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect...	ORPHA:1302
Phosphoserine Aminotransferase Deficiency	Apnea, Cyanotic episode, Death in infancy	OMIM:610992
Lethal Recessive Chondrodysplasia	Micrognathia, Respiratory distress, Macroglossia	ORPHA:1423
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Hyperactivity, High palate, Thick lower lip vermilion, Micrognathia, Hypodontia, Sh...	OMIM:618342
Pneumocystosis	Respiratory insufficiency, Parenchymal consolidation, Exertional dyspnea, Combined cystic and gro...	ORPHA:723
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Premature loss of primary teeth, Abnormality of dental morphology, Hypoplasia of teeth	ORPHA:248
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Neonatal respiratory distress...	OMIM:618781
Nemaline Myopathy 8	Respiratory failure, Flexion contracture, Death in infancy, Dysphagia	OMIM:615348
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Enamel hypoplasia, Ectodermal dysplasia, Widely spaced teeth	OMIM:613573
Intermediate Nemaline Myopathy	Flexion contracture, Long philtrum, Dysphagia, Respiratory failure, High, narrow palate, Arthrogr...	ORPHA:171433
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea, Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth	OMIM:619797
Staphylococcal Necrotizing Pneumonia	Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural empyema, Hypoxemia, Respi...	ORPHA:36238
Hypoglossia With Situs Inversus	High palate, Hypodontia, Micrognathia, Respiratory distress, Upper airway obstruction, Narrow mou...	OMIM:612776
Neurogenic Arthrogryposis Multiplex Congenita	Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Microg...	ORPHA:1143
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted lower lip vermilion, Microdontia, Everted upper lip vermilion, Delayed eruption of teeth	ORPHA:181
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Flexion contracture,...	ORPHA:258
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Carious teeth, Dentinogenesis imperfecta	OMIM:604922
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Distal arthrogryposis, Plantar flexion contracture, High palate, Paradoxical respiration, Respira...	OMIM:620011
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	High palate, Bronchiectasis, Asthma, Supernumerary tooth, Recurrent pneumonia, Recurrent upper re...	OMIM:619752
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Retrognathia, Knee flexion contracture, Distal arthrogryposis, Flexion contracture, High palate, ...	OMIM:617468
Teebi Hypertelorism Syndrome 2	High palate, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion, Thin upper lip ...	OMIM:619736
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Acute Lung Injury	Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distres...	ORPHA:178320
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Natal tooth	ORPHA:99811
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Abnormality of the philtrum, High palate, Delayed eruption of teeth, Mic...	ORPHA:2863
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Knee flexion contracture, Unilateral wrist flexion contracture, Micrognathia, Pulmonary hypoplasi...	OMIM:616531
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
X-Linked Centronuclear Myopathy	High palate, Recurrent respiratory infections, Respiratory distress, Respiratory failure requirin...	ORPHA:596
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Swollen lip, Upper airway obstruction, Erythema, Tongue edema, Angioedema, ...	ORPHA:100057
Growth Hormone Insensitivity Syndrome	Everted lower lip vermilion, Delayed eruption of teeth	ORPHA:181393
Blepharophimosis-Impaired Intellectual Development Syndrome	Enamel hypoplasia, Dental malocclusion, Flexion contracture, Wide mouth, Widely spaced teeth, Mic...	OMIM:619293
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth	OMIM:180900
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Respirato...	ORPHA:2759
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Delayed eruption of permanent teeth, Wide mouth, Thick vermilion border	OMIM:618506
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	High palate, Ventilator dependence with inability to wean, Respiratory distress, Macroglossia, Re...	ORPHA:254864
Congenital Muscular Dystrophy, Ullrich Type	Knee flexion contracture, Flexion contracture, Micrognathia, Elbow flexion contracture, Abnormal ...	ORPHA:75840
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Restrictive Dermopathy 2	Cyanosis, Hypoplastic facial bones, Respiratory distress, Microretrognathia	OMIM:619793
Scedosporiosis	Bronchitis, Apical pulmonary opacity, Pleural empyema, Pleuritis, Abnormal respiratory system phy...	ORPHA:449280
Gaucher Disease Type 2	Flexion contracture, Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia, Rec...	ORPHA:77260
Auriculocondylar Syndrome	Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,...	ORPHA:137888
Acrofacial Dysostosis, Weyers Type	Conical tooth, Hypodontia, Advanced eruption of teeth, Abnormal oral frenulum morphology, Solitar...	ORPHA:952
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Retrognathia, Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia, Thin vermili...	ORPHA:2631
Chronic Pneumonitis Of Infancy	Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress...	ORPHA:91359
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, High palate, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vit...	ORPHA:98913
Apnea, Central Sleep	Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration	OMIM:207720
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Crowded maxillary incisors, Narrow palate, Aplasia/Hypoplasia of the lungs, Micrognathia, Abnorma...	ORPHA:2063
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Attention deficit hyperactivit...	OMIM:618825
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Retrognathia, High palate, Respiratory failure, Arthrogryposis multipl...	OMIM:615330
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia, Scarring alopecia of scalp, Facial erythema	OMIM:612843
Congenital Myasthenic Syndrome	Cyanosis, Episodic respiratory distress, High palate, Central sleep apnea, Choking episodes, Micr...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Episodic respiratory distress, High palate, Central sleep apnea, Choking episodes, Micr...	ORPHA:98914
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Abnormality of connective tissue, Multiple joint contractures, Abnorma...	ORPHA:370968
Oculocerebrofacial Syndrome, Kaufman Type	Retrognathia, Wide mouth, Micrognathia, Abnormal lip morphology, Microdontia, Short philtrum, Res...	ORPHA:2707
Immunodeficiency 9	Ectodermal dysplasia, Recurrent aphthous stomatitis, Death in infancy, Stomatitis, Amelogenesis i...	OMIM:612782
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Dysphagia, Death in infancy, Congenital contracture	OMIM:225753
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Macroglossia, Delayed eruption of teeth	OMIM:614450
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy	OMIM:613869
Ectodermal Dysplasia With Adrenal Cyst	Ectodermal dysplasia, Delayed eruption of teeth	OMIM:129550
Seckel Syndrome 5	Retrognathia, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Hypodontia,...	OMIM:613823
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema	OMIM:302350
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Recurrent upper respiratory tract infections, Persistence of primary teeth, ...	OMIM:619769
Ciliary Dyskinesia, Primary, 1	Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Absent...	OMIM:244400
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration	OMIM:618328
Oculodentodigital Dysplasia, Autosomal Recessive	Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e...	OMIM:257850
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L...	OMIM:610910
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Microdontia, Tooth agenesis, Prematurely aged appearance	ORPHA:633
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Incisor macrodontia, High palate, Respiratory distress, Thin upper lip vermilion, Tented upper li...	ORPHA:438216
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Agnathia-Otocephaly Complex	Mandibular aplasia, Micrognathia, Respiratory distress, Pulmonary hypoplasia, Microglossia, Narro...	OMIM:202650
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Long philtrum, Joint contracture of the hand, Dela...	OMIM:214150
Sulfite Oxidase Deficiency, Isolated	Death in infancy, Agitation, Delayed eruption of teeth	OMIM:272300
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re...	ORPHA:254875
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Deep philtrum, Microdontia, Diastema, Cleft palate	OMIM:605282
Cockayne Syndrome Type 2	Enamel hypoplasia, Mandibular prognathia, Flexion contracture, Delayed eruption of primary teeth,...	ORPHA:90322
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Respiratory failure, Flexion contracture, Pulmonary hypoplasia, Dysphagia, Neonatal respiratory d...	OMIM:616867
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Everted lowe...	OMIM:618067
Impacted Teeth, Multiple	Multiple impacted teeth, Supernumerary tooth	OMIM:308280
Odontomicronychial Dysplasia	Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition	ORPHA:1811
Brown-Vialetto-Van Laere Syndrome 1	Respiratory insufficiency, Nocturnal hypoventilation, Tongue atrophy, Respiratory distress, Dyspn...	OMIM:211530
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE...	ORPHA:1303
Short-Rib Thoracic Dysplasia 12	Respiratory insufficiency, Lobulated tongue, Natal tooth, Pulmonary hypoplasia, Median cleft lip ...	OMIM:269860
Jalili Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology	ORPHA:1873
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Arthro...	OMIM:254210
Trichothiodystrophy 2, Photosensitive	Cutaneous photosensitivity, Agenesis of maxillary lateral incisor	OMIM:616390
Pachyonychia Congenita	Angular cheilitis, Natal tooth, Advanced eruption of teeth, Respiratory distress, Oral leukoplakia	ORPHA:2309
Hereditary Methemoglobinemia	Cyanosis, Lip discoloration, Exertional dyspnea	ORPHA:621
Mitochondrial Pyruvate Carrier Deficiency	Long philtrum, Thin upper lip vermilion, Respiratory distress	OMIM:614741
Dental Anomalies And Short Stature	Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ...	OMIM:601216
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Inguinal hernia, Attention defi...	OMIM:618205
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Atelectasis, Long philtrum, Morgagni diaphragmatic hernia, Death in infancy, Microg...	OMIM:613177
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Specific Granule Deficiency 2	Conical tooth, Death in infancy, Recurrent pneumonia, Amelogenesis imperfecta, Death in childhood...	OMIM:617475
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b...	ORPHA:1946
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Flexion contracture, Recurrent aspiration pneumonia, Dysphagia, Respiratory failure, Respiratory ...	ORPHA:2590
Laryngotracheal Angioma	Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing	ORPHA:137935
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Retrognathia, Flexion contracture, Wide mouth, Death in infancy, Short p...	ORPHA:1194
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Camptodactyly, Respiratory distress, Death in adolescence, Still...	OMIM:619751
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Contractures of the large joints, High palate, Deep philtrum, Micrognathia, ...	ORPHA:329178
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Enamel hypoplasia, Death in infancy, Atrophic scars, Fragile skin, Oral mucosal blisters, Arthrog...	OMIM:226730
Paroxysmal Non-Kinesigenic Dyskinesia	Dyspnea, Trismus	ORPHA:98810
Autosomal Recessive Spastic Paraplegia Type 77	Retrognathia, Neuromuscular dysphagia, Macrodontia of permanent maxillary central incisor, Sudden...	ORPHA:466722
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Dentinogenesis imperfecta, High palate, Long philtrum, Repeated pneumo...	ORPHA:536467
Cenani-Lenz Syndactyly Syndrome	Enamel hypoplasia, Micrognathia, Hypodontia, Malar flattening, Premature loss of permanent teeth	OMIM:212780
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Enamel hypoplasia, Tracheobronchomalacia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental ...	OMIM:619184
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension, Micrognathia, Dentinogenesis imperfecta	OMIM:259420
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
Lethal Acantholytic Erosive Disorder	Natal tooth, Camptodactyly of toe, Fragile skin, Respiratory failure, Cleft palate	ORPHA:158687
Recessive Dystrophic Epidermolysis Bullosa Inversa	Enamel hypoplasia, Atrophic scars, Fragile skin, Oral mucosal blisters, Carious teeth	ORPHA:79409
Hereditary Pulmonary Alveolar Proteinosis	Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz...	ORPHA:264675
4H Leukodystrophy	Dysphagia, Hypodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:289494
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Tooth malposition, Micrognathia, Microdontia, Hypodontia, Oligodontia, Hypoplasia of ...	ORPHA:363417
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Palmoplantar cutis laxa, Atypical scarring of skin	OMIM:229200
Odontotrichoungual-Digital-Palmar Syndrome	Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border	OMIM:601957
Atelosteogenesis, Type Ii	Respiratory insufficiency, Death in infancy, Micrognathia, Pulmonary hypoplasia, Stillbirth, Mala...	OMIM:256050
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Diffuse reticular or finely nodular infiltrations, Respiratory tract infection, Chronic bronchiti...	ORPHA:79127
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Enamel hypoplasia, Keloids, Atrophic scars, Fragile skin, Oral mucosal blisters, Carious teeth, A...	ORPHA:79410
Frank-Ter Haar Syndrome	Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Short phil...	ORPHA:137834
Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Pycnodysostosis	Dental malocclusion, Obtuse angle of mandible, Enamel hypoplasia, High palate, Delayed eruption o...	ORPHA:763
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Micrognathia, Short philtrum, Respiratory distress, Thin vermilion border, Lipoatrophy	ORPHA:261304
Microphthalmia, Syndromic 12	Retrognathia, Micrognathia, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:615524
Oromandibular Dystonia	Abnormal mandible morphology, Abnormal lip morphology, Respiratory distress, Dysphagia, Abnormali...	ORPHA:93958
Combined Oxidative Phosphorylation Deficiency 51	Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress	OMIM:619057
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Micrognathia, Respiratory distress, Recurrent pneumonia, Inguinal hern...	OMIM:613848
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia, Arthrogryposis multiplex congenita	OMIM:601809
Radio-Renal Syndrome	Retrognathia, Micrognathia, Respiratory distress, Pleural effusion, Downturned corners of mouth, ...	ORPHA:3015
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Carious teeth, Respiratory distress, Widely spaced teeth, Thick vermilion border	OMIM:617102
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Respiratory distress, Tracheomalacia, Recurrent respi...	OMIM:617180
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Retrognathia, Dentinogenesis imperfecta, Periodontitis, Asthma, Delayed eruption of permanent tee...	OMIM:619269
Severe Acute Respiratory Syndrome	Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati...	ORPHA:140896
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Long philtrum, Respiratory distress, Pulmonary hypoplasia, Respiratory failure, Omphalocele	OMIM:617895
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Idiopathic Pulmonary Hemosiderosis	Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular ...	ORPHA:99931
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon...	OMIM:313500
Naegeli-Franceschetti-Jadassohn Syndrome	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Abnormality of dental morphology, Sup...	ORPHA:69087
Adducted Thumbs Syndrome	Respiratory insufficiency, High palate, Velopharyngeal insufficiency, Dysphagia, Cleft palate, Hi...	OMIM:201550
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Oligodontia, Jaundice, Scarring alopecia of scalp, Abnormal dental enamel morphology	ORPHA:59303
Braddock-Carey Syndrome 1	Enamel hypoplasia, Pierre-Robin sequence, Camptodactyly, Everted lower lip vermilion, U-Shaped up...	OMIM:619980
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Scarring alopeci...	OMIM:618727
Snakebite Envenomation	Neuromuscular dysphagia, Respiratory paralysis, Pseudobulbar paralysis, Ecchymosis, Epistaxis, Gi...	ORPHA:449285
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Micrognathia, Arthrogryposis multiplex congenita	OMIM:607598
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Enamel hypoplasia, Flexion contracture, Corneal scarring, Atrophic scars, Fragile skin, Narrow mo...	OMIM:226600
Ciliary Dyskinesia, Primary, 23	Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,...	OMIM:615451
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4	Apnea, Neonatal death, Pulmonary hypoplasia	OMIM:615228
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Dysphagia	OMIM:618637
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Microdontia, Narrow mouth, Delayed eruption of permanent teeth, Open mouth	OMIM:619356
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Cleft soft palate, Oligodontia of primary teeth	OMIM:216300
Taurodontism	Taurodontia	OMIM:272700
Ciliary Dyskinesia, Primary, 2	Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Recurrent respiratory infections...	OMIM:606763
Chand Syndrome	Bifid tongue, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of permanent teeth...	ORPHA:1401
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Retrognathia, Hyperactivity, Narrow palate, Joint contracture of the hand, Delayed eruption of te...	OMIM:235510
Tularemia	Pulmonary infiltrates, Oral ulcer, Abnormal pulmonary thoracic imaging finding, Respiratory distr...	ORPHA:3392
Coffin-Siris Syndrome 2	Hyperactivity, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thick lower lip...	OMIM:614607
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Idiopathic Acute Eosinophilic Pneumonia	Respiratory insufficiency, Pulmonary infiltrates, Abnormal pleura morphology, Restrictive ventila...	ORPHA:724
Melnick-Needles Syndrome	Respiratory insufficiency, Delayed eruption of teeth, Micrognathia, Craniofacial hyperostosis, Om...	ORPHA:2484
Oculoskeletodental Syndrome	Retrognathia, Enamel hypoplasia, Microdontia, Oligodontia, Abnormality of the dentition	ORPHA:557003
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Respiratory distress	OMIM:615993
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:605809
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Dental malocclusion, High palate, Joint contracture of the hand, Delayed...	OMIM:612350
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Oligodontia, Ectodermal dysplasia, Natal tooth	OMIM:601345
Tetrasomy 12P	Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion,...	ORPHA:884
Sjögren-Larsson Syndrome	Urticaria, Erythema, Abnormal dental enamel morphology	ORPHA:816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Achilles tendon contracture, Elbow contracture, Macroglossia, Restrictive ventilatory defect, Dys...	OMIM:606612
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Micrognathia, Narrow mouth, Thin verm...	ORPHA:1046
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress, Long philtrum	OMIM:312170
Tetrasomy 5P	Pulmonary arterial hypertension, Cyanosis, High palate, Long philtrum, Micrognathia, Respiratory ...	ORPHA:3309
Ciliary Dyskinesia, Primary, 27	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615504
Lowry-Maclean Syndrome	Retrognathia, Talon cusp, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi...	ORPHA:2409
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Flexion contracture, Multiple joint contractures, Micrognathia, Central apnea, Respiratory failur...	OMIM:618291
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor, Tongue fasciculations, Arthrogryposis multiple...	ORPHA:2254
Avian Influenza	Pulmonary infiltrates, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarria...	ORPHA:454836
Raine Syndrome	Enamel hypoplasia, Mandibular prognathia, High palate, Neonatal death, Wide mouth, Natal tooth, D...	OMIM:259775
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Micrognathia, Ankle flexion contracture, Dysphagia, Recurrent lower respiratory trac...	OMIM:617802
Cranioectodermal Dysplasia	Microdontia, Hypodontia, Taurodontia, Everted lower lip vermilion, Abnormality of the dentition, ...	ORPHA:1515
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the lungs, Microdontia, Hypodontia, Abnormal ora...	ORPHA:289
Ciliary Dyskinesia, Primary, 42	Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr...	OMIM:618695
Aredyld Syndrome	Mandibular prognathia, Advanced eruption of teeth, Craniofacial hyperostosis, Narrow mouth, Smoot...	ORPHA:1133
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
48,Xxxy Syndrome	Pulmonary embolism, Mandibular prognathia, Delayed eruption of teeth, Asthma, Taurodontia, Inguin...	ORPHA:96263
Aarskog-Scott Syndrome	Camptodactyly of finger, Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower...	ORPHA:915
Proximal Spinal Muscular Atrophy	Knee flexion contracture, Respiratory failure, Hypoventilation, Flexion contracture, Recurrent as...	ORPHA:70
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P...	ORPHA:2414
Glycine Encephalopathy With Normal Serum Glycine	Retrognathia, Flexion contracture, Hip contracture, Elbow flexion contracture, Apnea, Dysphagia, ...	OMIM:617301
Ciliary Dyskinesia, Primary, 3	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress,...	OMIM:608644
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Dental malocclusion, Mandibular prognathia, High palate, Abnormality of ...	ORPHA:1327
Cardiospondylocarpofacial Syndrome	High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition	ORPHA:3238
Oculofaciocardiodental Syndrome	Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Flexion contracture of ...	ORPHA:2712
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Ce...	ORPHA:199241
Malan Syndrome	Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Cutis marmorata, Hyperplasia of ...	OMIM:614753
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Respiratory distress	ORPHA:91130
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Achilles tendon contracture	OMIM:604801
Rapp-Hodgkin Syndrome	Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon...	OMIM:129400
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Malar flattening	OMIM:614727
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Microretrognathia, Dysphagia	ORPHA:89844
Coffin-Siris Syndrome 3	Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, Inguinal hern...	OMIM:614608
49,Xxxxy Syndrome	Pulmonary embolism, Mandibular prognathia, Delayed eruption of teeth, Asthma, Taurodontia, Attent...	ORPHA:96264
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi...	ORPHA:411703
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Abnormality of the dentition	OMIM:610968
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis	OMIM:302000
Kohlschutter-Tonz Syndrome-Like	Enamel hypoplasia, Delayed eruption of teeth, Widely spaced teeth, Abnormality of dental morpholo...	OMIM:619229
Ameloonychohypohidrotic Syndrome	Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis...	OMIM:104570
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory insufficiency, Knee flexion contracture, High palate, Hip contracture, Elbow flexion ...	ORPHA:1145
Genitopatellar Syndrome	Knee flexion contracture, Hip contracture, Long philtrum, Delayed eruption of teeth, Micrognathia...	ORPHA:85201
Interstitial Lung Disease 1	Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev...	OMIM:619611
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory insufficiency, Difficulty in tongue movements, Respiratory tract infection, Flexion c...	ORPHA:365
Synaptic Congenital Myasthenic Syndromes	Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Mandibular prognathi...	ORPHA:98915
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Petechiae, Micrognathia, Purpura, Respiratory distress...	OMIM:608013
Ciliary Dyskinesia, Primary, 11	Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus...	OMIM:612649
Fetal Akinesia Deformation Sequence 2	Respiratory insufficiency, Flexion contracture, High palate, Micrognathia, Tented upper lip vermi...	OMIM:618388
Diaphanospondylodysostosis	Cleft palate, Respiratory distress	ORPHA:66637
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure	OMIM:610127
Diffuse Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Pulmonary infiltrates, Flexion contracture, Dysphagia, Dyspnea, ...	ORPHA:220393
Lethal Congenital Contracture Syndrome 1	Micrognathia, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita	OMIM:253310
Spinocerebellar Ataxia, Autosomal Recessive 20	High palate, Long philtrum, Delayed eruption of teeth, Camptodactyly, Macroglossia, Dental crowdi...	OMIM:616354
Cleidocranial Dysplasia	Mandibular prognathia, Recurrent respiratory infections, Delayed eruption of teeth, Micrognathia,...	ORPHA:1452
Developmental And Epileptic Encephalopathy 100	Enamel hypoplasia, Bilateral camptodactyly, High palate, Aspiration, Central sleep apnea, Microgn...	OMIM:619777
Sandestig-Stefanova Syndrome	Retrognathia, High palate, Camptodactyly, Respiratory failure, Orofacial cleft	OMIM:618804
Congenital Disorder Of Glycosylation, Type Ie	Knee flexion contracture, Telangiectasia, Micrognathia, Camptodactyly, Respiratory distress, Smoo...	OMIM:608799
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Aspiration pneumonia, High palate, Deep philtrum, Micrognathia, Respiratory dist...	ORPHA:314655
Cole-Carpenter Syndrome 1	Micrognathia, Microdontia, Dentinogenesis imperfecta	OMIM:112240
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, Micrognathia, Short philtrum, Hypoplasia of t...	OMIM:216550
Orofaciodigital Syndrome Type 2	Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ...	ORPHA:2751
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Respiratory insufficiency, Abnormal lower lip morphology, Micrognathia, Abnormality of the pulmon...	ORPHA:1166
Chronic Mucocutaneous Candidiasis	Abnormal lip morphology, Cough, Erythema, Recurrent respiratory infections, Cheilitis, Abnormal d...	ORPHA:1334
Brain-Lung-Thyroid Syndrome	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Hyperactivity, Abnor...	ORPHA:209905
Qazi-Markouizos Syndrome	Open mouth, High, narrow palate, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Mucopolysaccharidosis, Type Ii	Tracheobronchomalacia, Flexion contracture, Delayed eruption of teeth, Asthma, Widely spaced teet...	OMIM:309900
Kleefstra Syndrome 1	Tracheobronchomalacia, Mandibular prognathia, Natal tooth, Macroglossia, Everted lower lip vermil...	OMIM:610253
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612462
Momo Syndrome	Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermi...	OMIM:157980
Solar Urticaria	Dermatographic urticaria, Abnormal lip morphology, Abnormal tongue morphology, Dyspnea, Angioedem...	ORPHA:97230
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Apnea, Respiratory failure, Death in infancy	OMIM:616277
Adult Acute Respiratory Distress Syndrome	Pulmonary infiltrates, Pulmonary edema, Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory...	ORPHA:70578
Fibrodysplasia Ossificans Progressiva	Respiratory insufficiency, Respiratory failure, Widely spaced teeth	OMIM:135100
Craniometaphyseal Dysplasia, Autosomal Recessive	Broad alveolar ridges, Facial hyperostosis, Mandibular prognathia, Delayed eruption of permanent ...	OMIM:218400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Micrognathia, Death in childhood, Natal tooth, Death in infancy	OMIM:616901
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Spondylometaphyseal Dysplasia, X-Linked	Respiratory insufficiency, Respiratory failure, Hip contracture, Knee flexion contracture	OMIM:313420
Seckel Syndrome 1	Enamel hypoplasia, Dental malocclusion, Hyperactivity, High palate, Selective tooth agenesis, Mic...	OMIM:210600
Ciliary Dyskinesia, Primary, 28	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615505
X-Linked Intellectual Disability Due To Gria3 Mutations	Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central...	ORPHA:364028
Andersen Cardiodysrhythmic Periodic Paralysis	Enamel hypoplasia, High palate, Prominent frontal sinuses, Micrognathia, Oligodontia, Dental crow...	OMIM:170390
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Difficulty in tongue movements, Respiratory tract infection, Respirato...	ORPHA:308552
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Flexion contracture, Hypoplasia of teeth, Accessory oral frenulum	ORPHA:88630
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Temple-Baraitser Syndrome	High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of teeth, Wide mouth, E...	ORPHA:420561
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio...	ORPHA:60025
Ciliary Dyskinesia, Primary, 30	Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp...	OMIM:616037
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Delayed eruption of teeth	OMIM:103580
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Everted lower lip vermilion, Hypoplasia of the m...	OMIM:616367
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Pica, Hyperactivity, Widely spaced teeth, Advanced eruption of teeth, Everted lower lip vermilion...	OMIM:617865
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Delayed eruption of teeth	OMIM:617105
Whim Syndrome	Respiratory tract infection, Bronchiectasis, Cellulitis, Severe periodontitis, Recurrent pneumoni...	ORPHA:51636
Oculocerebrorenal Syndrome Of Lowe	Respiratory insufficiency, Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Ever...	ORPHA:534
Congenital Tracheomalacia	Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy...	ORPHA:95430
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, High palate, Microretrognathia	OMIM:616294
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d...	ORPHA:747
Hall-Riggs Syndrome	Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morpho...	ORPHA:2107
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Microdontia, Cleft palate, Neonatal asphyxia, Hypoplasia of teeth	ORPHA:2728
Osteoglosphonic Dysplasia	Inguinal hernia, Micrognathia, Multiple unerupted teeth, Tooth agenesis	ORPHA:2645
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Enamel hypoplasia, Pulp calcification, Taurodontia	OMIM:211900
Pycnodysostosis	Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Absent frontal sinuse...	OMIM:265800
Meckel Syndrome 14	Retrognathia, Cyanosis, Pneumothorax, Micrognathia, Pulmonary hypoplasia, Microretrognathia, Card...	OMIM:619879
Char Syndrome	No permanent dentition, Short philtrum, Everted lower lip vermilion, Persistence of primary teeth...	ORPHA:46627
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Natal tooth, Delayed eruption of teeth, Hypodontia, Oligodontia, Dysphagia	OMIM:614381
Tetanus	Dysphagia, Trismus, Respiratory distress, Tachypnea	ORPHA:3299
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Hypoplasia of the zygomatic bone, Micrognathia, Carious teeth, Supernumerary tooth	ORPHA:3145
Tremor-Ataxia-Central Hypomyelination Syndrome	Dysphagia, Hypodontia, Oligodontia, Delayed eruption of teeth	ORPHA:447896
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia, Tooth malposition	OMIM:268320
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Central apnea	ORPHA:71277
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth, Chronic rhinitis d...	OMIM:259710
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Micrognathia, Pulmonary hypoplasia, Narrow mouth, Malar flattening, Ne...	OMIM:224410
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Hepatic Veno-Occlusive Disease	Respiratory failure, Jaundice	ORPHA:890
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Cutaneous photosensitivity, Mandibular prognathia, High palate, Malar flattening, Abnormal dental...	ORPHA:2180
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft upper lip, Ectodermal dysplasia, Recurrent respiratory infections, Micrognathia, Abnormalit...	ORPHA:3253
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Death in infancy, Congenital pulmonary airway malformation, Omphalocele, Recur...	OMIM:243150
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Myopathy, Centronuclear, 5	Respiratory insufficiency, Retrognathia, High palate, Hip contracture, Micrognathia, Bifid uvula,...	OMIM:615959
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Cleidocranial Dysplasia 1	Enamel hypoplasia, Narrow palate, High palate, Hypoplastic frontal sinuses, Delayed eruption of p...	OMIM:119600
Acrootoocular Syndrome	Dental malocclusion, Delayed eruption of teeth, Grayish enamel, Micrognathia, Anodontia, Choking ...	ORPHA:2980
Trichorhinophalangeal Syndrome, Type I	Dental malocclusion, Narrow palate, Long philtrum, Deep philtrum, Delayed eruption of teeth, Micr...	OMIM:190350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Asthma, Jaundice, Carious teeth, Allergic rhinitis	OMIM:612714
Congenital Multicore Myopathy With External Ophthalmoplegia	Flexion contracture, High palate, Recurrent respiratory infections, Increased connective tissue, ...	ORPHA:98905
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe...	OMIM:178500
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Natal tooth	OMIM:609638
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Thin vermilion border	OMIM:614856
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal palate morphology, Abnormal dental enamel morphology	ORPHA:3236
Bone Marrow Failure Syndrome 3	Enamel hypoplasia, Hyperactivity, Hernia, Micrognathia, Hypodontia, Microdontia, Amelogenesis imp...	OMIM:617052
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, Mandibular prognathia, High palate	OMIM:262190
Idiopathic Bronchiectasis	Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio...	ORPHA:60033
Jalili Syndrome	Enamel agenesis, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:217080
Dysosteosclerosis	Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:1782
Moebius Syndrome	High palate, Micrognathia, Bifid uvula, Camptodactyly, Respiratory distress, Dysphagia, Arthrogry...	OMIM:157900
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Pulmonary hypoplasia, Hypoxemia, Respiratory distress	ORPHA:2140
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Enamel hypoplasia, High palate, Ankyloglossia, Thin upper lip vermilion, Malar flattening, Bilate...	OMIM:618874
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Ectodermal dysplasia	OMIM:300291
Ciliary Dyskinesia, Primary, 32	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Chro...	OMIM:616481
Alopecia Antibody Deficiency	Recurrent respiratory infections, Abnormality of dental color	ORPHA:1006
Vitamin D-Dependent Rickets, Type 2A	Carious teeth, Enamel hypoplasia, Delayed eruption of teeth	OMIM:277440
Hypophosphatasia	Respiratory insufficiency, Abnormality of the dentition, Emphysema	ORPHA:436
Fetal Akinesia Deformation Sequence	Respiratory insufficiency, Camptodactyly of finger, Multiple joint contractures, Micrognathia, Pu...	ORPHA:994
Craniolenticulosutural Dysplasia	High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the...	ORPHA:50814
Xfe Progeroid Syndrome	Enamel hypoplasia, Cutaneous photosensitivity, Corneal scarring, Premature loss of teeth, Death i...	OMIM:610965
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Knee flexion contracture, Cyanotic episode, Micrognathia, Limb joint contracture, Ankle flexion c...	ORPHA:284417
Congenital Myopathy 17	Respiratory insufficiency, Dental malocclusion, Distal arthrogryposis, Mandibular prognathia, Hig...	OMIM:618975
Marbach-Rustad Progeroid Syndrome	Eruption failure, Delayed eruption of primary teeth, Hypodontia, Micrognathia, Reduced subcutaneo...	OMIM:619322
Primary Dystonia, Dyt4 Type	Open mouth, Movement abnormality of the tongue, Respiratory distress, Dysphagia	ORPHA:98805
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Ohdo Syndrome	Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b...	OMIM:249620
Craniometadiaphyseal Dysplasia	Mandibular prognathia, High palate, Natal tooth, Absent paranasal sinuses, Microdontia, Dental cr...	OMIM:269300
Congenital Myopathy 1B, Autosomal Recessive	Respiratory insufficiency, High palate, Increased connective tissue, Pulmonary hypoplasia, Recurr...	OMIM:255320
Brachydactyly, Type B1	Delayed eruption of permanent teeth, Camptodactyly, Joint contracture of the hand	OMIM:113000
Acrocraniofacial Dysostosis	Micrognathia, Natal tooth, Short philtrum, Cleft palate	OMIM:201050
Usher Syndrome Type 2	Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology	ORPHA:231178
Anaplastic Thyroid Carcinoma	Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Dysphagia, Neoplasm of t...	ORPHA:142
Emanuel Syndrome	Broad jaw, High palate, Long philtrum, Multiple joint contractures, Delayed eruption of teeth, Mi...	ORPHA:96170
Codas Syndrome	Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:1458
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Dyspnea, Delayed eruption of teeth	ORPHA:94089
Congenital Fiber-Type Disproportion Myopathy	Knee flexion contracture, Flexion contracture, Aspiration pneumonia, High palate, Hip contracture...	ORPHA:2020
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Micrognathia, Bifid uvula, Respiratory distress, Congenital diaphragmatic hernia, Cleft palate	OMIM:606164
Mandibuloacral Dysplasia With Type B Lipodystrophy	Flexion contracture, High palate, Micrognathia, Decreased adipose tissue around neck, Prominent s...	OMIM:608612
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Micrognathia, Hyperactivity, Attention deficit hyperactivity disorder, Delayed eruption of teeth	ORPHA:73272
Bent Bone Dysplasia Syndrome 1	Micrognathia, Malar flattening, Gingival overgrowth, Natal tooth	OMIM:614592
Teebi Hypertelorism Syndrome 1	Long philtrum, Natal tooth, Micrognathia, Pulmonary hypoplasia, Thin upper lip vermilion, Dental ...	OMIM:145420
Cockayne Syndrome Type 1	Enamel hypoplasia, Cutaneous photosensitivity, Mandibular prognathia, Foot joint contracture, Del...	ORPHA:90321
Esophageal Atresia	Cyanosis, Bronchitis, Oral aversion, Aspiration, Respiratory distress, Chronic pulmonary obstruct...	ORPHA:1199
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal death, Death in childh...	OMIM:245400
Niemann-Pick Disease, Type C2	Respiratory insufficiency, Death in infancy, Jaundice, Dysphagia, Respiratory failure, Prolonged ...	OMIM:607625
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Inguinal hernia, Hypocalcification of dental enamel, Umbilical ...	ORPHA:3134
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Respiratory insufficiency, Lobulated tongue, Bifid tongue, Natal tooth, Hypoplastic facial bones,...	OMIM:616300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Taurodontia, Short philtrum, High, narrow palate, Macrodontia	ORPHA:3214
Chronic Beryllium Disease	Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system...	ORPHA:133
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Enamel hypoplasia, Death in infancy	OMIM:614576
Branchioskeletogenital Syndrome	Mandibular prognathia, Periorbital wrinkles, Bifid uvula, Submucous cleft hard palate, Short phil...	ORPHA:1299
Achondrogenesis Type 2	Cardiorespiratory arrest, Pierre-Robin sequence, Pulmonary hypoplasia	ORPHA:93296
Odontoonychodermal Dysplasia	Palmoplantar erythema, Hypodontia, Widely spaced primary teeth, Agenesis of permanent teeth, Smoo...	OMIM:257980
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Neonatal death, Death in childhood, Arthrogryposis multipl...	OMIM:619334
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure	ORPHA:168486
Three M Syndrome 2	Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Malar flattening, Thi...	OMIM:612921
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Tented upper lip vermilion, Flexion contracture, Narrow palate	OMIM:616505
Glutamine Deficiency, Congenital	Flexion contracture, Neonatal death, Camptodactyly, Apnea, Erythema, Neonatal respiratory distres...	OMIM:610015
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Cleft palate, Short philtrum, Scarring alopecia of scalp, Natal tooth	OMIM:617337
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Bruising susceptibility	OMIM:166200
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia	OMIM:245650
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Flexion contracture, Hypodontia, Respiratory distress, Inguinal hernia, Restlessness	ORPHA:544503
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Central sleep apnea, Obstructive sleep apnea, Dysphagia	ORPHA:70472
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption of permanent teeth, Am...	OMIM:204690
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Central hypoventilation, Dysphagia, Respiratory failure, Sleep apnea	OMIM:618233
Diaphanospondylodysostosis	Respiratory insufficiency, Micrognathia, Respiratory distress, Pulmonary hypoplasia, Inguinal her...	OMIM:608022
Ciliary Dyskinesia, Primary, 15	Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Rhinorrhea, Cough, Ci...	OMIM:613808
Coenzyme Q10 Deficiency, Primary, 8	Pulmonary hypoplasia, Flexion contracture, Respiratory distress	OMIM:616733
Double Outlet Right Ventricle	Cyanosis, Submucous cleft hard palate, Narrow mouth, Pulmonary artery atresia, Cleft palate, Tach...	ORPHA:3426
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Delayed eruption of teeth	OMIM:264700
Aspergillosis	Pulmonary infiltrates, Diffuse reticular or finely nodular infiltrations, Parenchymal consolidati...	ORPHA:1163
Immunodeficiency 49	Natal tooth, Micrognathia, Short philtrum, Pulmonary artery stenosis, Umbilical hernia	OMIM:617237
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hypodontia, Enamel hypoplasia, Oligodontia, Jaundice	OMIM:607626
Coffin-Lowry Syndrome	Narrow palate, High palate, Wide mouth, Delayed eruption of teeth, Widely spaced teeth, Thick low...	ORPHA:192
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Flexion contracture, High palate, Pulmonary hypoplasia, Microretrognathia, Narrow mouth, Dysphagi...	OMIM:616866
Riddle Syndrome	Bronchitis, Abnormal pulmonary interstitial morphology, Telangiectasia, Recurrent sinusitis, Chro...	ORPHA:420741
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress	OMIM:619003
Geleophysic Dysplasia 3	Long philtrum, Dyspnea, Respiratory failure, Sleep apnea, Pneumonia, Thick vermilion border	OMIM:617809
Laryngeal Abductor Paralysis	Cyanosis, Stridor, Dysphagia	OMIM:150260
Eosinophilic Granulomatosis With Polyangiitis	Respiratory insufficiency, Pulmonary infiltrates, Abnormal pleura morphology, Asthma, Purpura, Ac...	ORPHA:183
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Enamel hypoplasia, Micrognathia, Recurrent respirator...	OMIM:618458
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Hyperactivity, High palate, Delayed eruption of teeth, Micrognathia, Advance...	OMIM:619148
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Tonne-Kalscheuer Syndrome	Widely spaced teeth, Micrognathia, Velopharyngeal insufficiency, Pulmonary hypoplasia, Congenital...	OMIM:300978
Crisponi/Cold-Induced Sweating Syndrome 1	Retrognathia, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, Camptodactyly,...	OMIM:272430
Momo Syndrome	Thick upper lip vermilion, Dental malocclusion, High palate, Long philtrum, Delayed eruption of t...	ORPHA:2563
Orofacial Cleft 15	Palate fistula, Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip	OMIM:616788
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Pneumonia, Hypocalcification of dental enamel	ORPHA:169090
Trisomy 9P	Non-midline cleft lip, Downturned corners of mouth, Impacted tooth, Dental crowding	ORPHA:236
Pallister-Hall-Like Syndrome	Death in infancy, Micrognathia, Pulmonary hypoplasia, Median cleft lip, Microglossia, Cleft palate	OMIM:241800
Slc35A1-Cdg	Pulmonary hemorrhage, Cellulitis, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Pneum...	ORPHA:238459
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Joint contracture, Respiratory distress	OMIM:617977
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Widely spaced teeth, Micrognathia, Recurrent pneumonia, Dysphagia, Respiratory failure, Respirato...	ORPHA:496641
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Farber Disease	Respiratory insufficiency, Flexion contracture, Nodular pattern on pulmonary HRCT, Respiratory di...	ORPHA:333
Kleefstra Syndrome	Mandibular prognathia, Hernia, Recurrent respiratory infections, Delayed eruption of teeth, Advan...	ORPHA:261494
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Long phi...	ORPHA:2215
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Pulmonary hypoplasia, Microretrognathia, Stillbirth, Neonatal death, Arthrogryposis multiplex con...	OMIM:236500
Yellow Nail Syndrome	Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Pleuritis, Dyspnea, Sinusitis, Cough, ...	ORPHA:662
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Neoplasm of the lung, Hypodontia, Abnormal oral mucosa morphology, Erythema, Carious teeth, Abnor...	ORPHA:659
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Flexion contracture, High palate, Long philtrum, Respiratory distress, Attention deficit hyperact...	OMIM:619383
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	High palate, Exertional dyspnea, Respiratory distress, Respiratory failure, Death in childhood, R...	OMIM:220110
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Wide mouth, Widely spaced teeth, Grayish enamel, Recurrent pneumonia, Ingu...	OMIM:253000
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Chst3-Related Skeletal Dysplasia	Flexion contracture, Long philtrum, Delayed eruption of teeth	ORPHA:263463
Trichothiodystrophy 3, Photosensitive	Carious teeth, Cutaneous photosensitivity, Eclabion, Natal tooth	OMIM:616395
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Narrow mouth, Mandibular aplasia, Microglossia, Respiratory distress	ORPHA:990
Marshall Syndrome	Thick upper lip vermilion, Pierre-Robin sequence, Long philtrum, Macrodontia of permanent maxilla...	OMIM:154780
Cherubism	Dental malocclusion, Narrow palate, Jaw swelling, Oligodontia, Macular scar, Alveolar ridge overg...	OMIM:118400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	High palate, Death in infancy, Irregular respiration, Respiratory distress, Inspiratory stridor	OMIM:604377
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Wrist flexion contracture, Omphalocele, Flexion contracture, Camptodactyly, Macrogl...	ORPHA:254528
Achondrogenesis, Type Ib	Respiratory insufficiency, Inguinal hernia, Stillbirth, Malar flattening, Umbilical hernia	OMIM:600972
Severe Congenital Nemaline Myopathy	Flexion contracture, Increased connective tissue, Pulmonary hypoplasia, Dysphagia, Respiratory fa...	ORPHA:171430
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Dental malocclusion, Wrist flexion contracture, Knee flexion contracture...	OMIM:305620
Hereditary Angioedema Type 1	Abnormal uvula morphology, Dermatographic urticaria, Respiratory distress, Abnormal soft palate m...	ORPHA:100050
Dysosteosclerosis	High palate, Natal tooth, Delayed eruption of teeth, Absent paranasal sinuses, Micrognathia, Olig...	OMIM:224300
Immunodeficiency 54	Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections	OMIM:609981
Temtamy Syndrome	Micrognathia, Dental crowding, Long philtrum, Hypoplasia of teeth	OMIM:218340
Succinic Acidemia	Respiratory distress	OMIM:600335
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Genera...	ORPHA:363400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Dysphagia, Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Eiken Syndrome	Eruption failure, Thick lower lip vermilion, Oligodontia, Short philtrum, Multiple unerupted teet...	OMIM:600002
Pachyonychia Congenita 2	Oral leukoplakia, Angular cheilitis, Natal tooth	OMIM:167210
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition	OMIM:615802
Hallermann-Streiff Syndrome	Pulmonary arterial hypertension, Dental malocclusion, Hyperactivity, Telangiectasia, Narrow palat...	OMIM:234100
Cole-Carpenter Syndrome	Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2050
Short Syndrome	Dental malocclusion, Delayed eruption of teeth, Hypodontia, Micrognathia, Premature skin wrinklin...	OMIM:269880
Hamamy Syndrome	Enamel hypoplasia, Dental malocclusion, High palate, Long philtrum, Wide mouth, Micrognathia, Hyp...	OMIM:611174
Lujo Hemorrhagic Fever	Rhinitis, Purpura, Respiratory distress, Ecchymosis, Crackles, Dysphagia, Nonproductive cough, At...	ORPHA:319213
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Respiratory distress, Umbilical hernia, Macroglossia	ORPHA:226313
Relapsing Polychondritis	Recurrent aphthous stomatitis, Purpura, Abnormal pattern of respiration, Dyspnea, Cough, Erythema...	ORPHA:728
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea	OMIM:614299
Pulmonary Hemosiderosis	Respiratory insufficiency, Transient pulmonary infiltrates, Pulmonary fibrosis, Recurrent intrapu...	OMIM:178550
Cranioectodermal Dysplasia 4	Decreased nasal nitric oxide, Taurodontia, Recurrent pneumonia, Smooth philtrum, Thin vermilion b...	OMIM:614378
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Respiratory failure, Central hypoventilation	OMIM:619483
Cerebellofaciodental Syndrome	Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor	OMIM:616202
Mandibuloacral Dysplasia	Contractures of the large joints, High palate, Lipoatrophy, Micrognathia, Increased adipose tissu...	ORPHA:2457
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Long philtrum, Micrognathia, Maxillary lateral incisor microdontia, Impulsiv...	ORPHA:73223
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, High palate, Natal tooth, Palmoplantar cutis laxa, Bifid uvula, Respiratory distre...	OMIM:123790
Pseudohypoparathyroidism Type 1C	Polyphagia, Enamel hypoplasia, Dyspnea, Delayed eruption of teeth	ORPHA:79444
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Dyspnea, Dysphagia, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Long philtrum, Micrognathia, Oligodontia, Short philtrum, Dorsocervical fat pad, Thin upper lip v...	ORPHA:391408
Hennekam Syndrome	Respiratory insufficiency, Retrognathia, Camptodactyly of finger, Delayed eruption of teeth, Abno...	ORPHA:2136
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Short Syndrome	Abnormal mandible morphology, Microdontia, Excessive wrinkled skin, Inguinal hernia, Lipodystroph...	ORPHA:3163
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Contractures of the large joints, Long philtrum, Wide mouth, Micrognathia, Abnormal...	ORPHA:96092
Lead Poisoning	Delayed eruption of teeth, Asthma, Abnormal respiratory system physiology, Miscarriage, Attention...	ORPHA:330015
Trichothiodystrophy	Retrognathia, Enamel hypoplasia, Cutaneous photosensitivity, Multiple joint contractures, Hypopla...	ORPHA:33364
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Lymphangioleiomyomatosis	Pulmonary infiltrates, Pneumothorax, Emphysema, Restrictive ventilatory defect, Dyspnea, Chylotho...	ORPHA:538
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Neuromuscular dysphagia, Respiratory distress	ORPHA:240085
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	High palate, Micrognathia, Thin upper lip vermilion, Cyanosis	ORPHA:3304
22Q11.2 Deletion Syndrome	Atelectasis, Long philtrum, Abnormality of the dentition, Asthma, Micrognathia, Abnormal lung lob...	ORPHA:567
Zygomycosis	Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Cellulitis, Fasciitis, Pleural ef...	ORPHA:73263
Tooth Agenesis, Selective, 4	Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o...	OMIM:150400
Johanson-Blizzard Syndrome	Death in infancy, Delayed eruption of teeth, Microdontia, Oligodontia, Abnormality of the dentition	ORPHA:2315
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Conical tooth, Rhinitis, Everted upper lip vermilion, Microdontia, Hypodontia, Taurodontia, Respi...	OMIM:305100
De Barsy Syndrome	High palate, Delayed eruption of teeth, Recurrent sinopulmonary infections, Emphysema, Inguinal h...	ORPHA:2962
Ellis-Van Creveld Syndrome	Cleft upper lip, Ectodermal dysplasia, Natal tooth, Delayed eruption of teeth, Hypodontia, Abnorm...	OMIM:225500
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Emanuel Syndrome	Broad jaw, High palate, Long philtrum, Delayed eruption of primary teeth, Micrognathia, Recurrent...	OMIM:609029
Oculodentodigital Dysplasia	Enamel hypoplasia, Cleft upper lip, High palate, Selective tooth agenesis, Microdontia, Broad alv...	OMIM:164200
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open mouth, Open bite	ORPHA:950
Tarp Syndrome	Cyanosis, Pierre-Robin sequence, Tongue nodules, Micrognathia, Pulmonary hypoplasia, Apnea, Alveo...	ORPHA:2886
Ciliary Dyskinesia, Primary, 43	Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator...	OMIM:618699
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Respiratory distress, Median cleft lip and palate, Cardiorespiratory ...	ORPHA:3342
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit...	ORPHA:1031
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:289157
Nipah Virus Disease	Cough, Respiratory distress, Recurrent pharyngitis	ORPHA:99825
X-Linked Hypophosphatemia	Cellulitis, Enthesitis, Odontodysplasia, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Dysphagia	OMIM:613954
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Trichodermodysplasia-Dental Alterations Syndrome	Abnormality of dental morphology, Tooth agenesis, Supernumerary tooth, Delayed eruption of teeth	ORPHA:3353
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Advanced eruption of teeth, Lipodystrophy, Loss of subcutaneous adipose tissue in lim...	ORPHA:2348
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Pneumothorax, Erosion of oral mucosa, Respiratory distress, Fragile skin, Abno...	ORPHA:79404
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Impulsivity, Protruding tongue, Attention deficit hyperactivity disorder	OMIM:619580
Laryngomalacia	Congenital laryngeal stridor, Respiratory distress	OMIM:150280
Sarcoidosis, Susceptibility To, 2	Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog...	OMIM:612387
Miller-Dieker Lissencephaly Syndrome	Thick upper lip vermilion, Recurrent aspiration pneumonia, Delayed eruption of teeth, Joint contr...	OMIM:247200
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Abnormality of the dentition	ORPHA:88618
Ctcf-Related Neurodevelopmental Disorder	Pulmonary arterial hypertension, Pulmonary hemorrhage, Long philtrum, Macrodontia of permanent ma...	ORPHA:363611
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Thick lower lip vermilion, Inguinal hernia, Tracheomalacia, Umbilical hernia, Abnorm...	ORPHA:261652
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate, ...	ORPHA:2780
Acquired Methemoglobinemia	Dyspnea, Cyanosis, Hypoxemia, Respiratory distress	ORPHA:464453
Nijmegen Breakage Syndrome	Retrognathia, Non-midline cleft lip, Cutaneous photosensitivity, Deep philtrum, Recurrent sinopul...	ORPHA:647
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Flexion contracture, Micrognathia, Abnormal lung lobation, Pulmonary hypoplasia, Co...	OMIM:263210
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, Foot joint contracture, Long philtrum, Macrodontia of permanent maxillary ce...	ORPHA:444072
Bloom Syndrome	Retrognathia, Cutaneous photosensitivity, Bronchitis, Rhinitis, Telangiectasia, Respiratory tract...	ORPHA:125
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Myopathy And Diabetes Mellitus	Achilles tendon contracture, Respiratory distress	ORPHA:2596
Spinal muscular atrophy, type I, with congenital bone fractures	Flexion contracture, High palate, Respiratory distress	OMIM:271225
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure, Paroxysmal dyspnea, Stridor, Cyanosis	ORPHA:444013
Achondroplasia	Death in infancy, Pulmonary hypoplasia, Respiratory distress, Upper airway obstruction, Malar fla...	OMIM:100800
Mogs-Cdg	Retrognathia, Hypoventilation, High palate, Pulmonary edema, Respiratory distress, Apnea	ORPHA:79330
Apert Syndrome	Respiratory insufficiency, Mandibular prognathia, Narrow palate, Delayed eruption of teeth, Bifid...	ORPHA:87
Faciocardiomelic Dysplasia, Lethal	Retrognathia, Micrognathia, Narrow mouth, Microglossia, Neonatal death	OMIM:227270
Surfactant Metabolism Dysfunction, Pulmonary, 5	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ...	OMIM:614370
Malaria	Respiratory distress	ORPHA:673
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory insufficiency, Pulmonary fibrosis, Respiratory failure, Recurrent respiratory infecti...	OMIM:618278
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Dysostosis, Stanescu Type	Macroglossia, Hypoplasia of the maxilla, Abnormal palate morphology, Hypoplasia of the zygomatic ...	ORPHA:1798
Adnp Syndrome	Aspiration, Thick lower lip vermilion, Advanced eruption of teeth, Respiratory distress, Thin upp...	ORPHA:404448
Familial Multiple Lipomatosis	Lipodystrophy, Odontogenic keratocysts of the jaw, Increased adipose tissue, Premature eruption o...	ORPHA:199276
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Respiratory insufficiency, High palate, Dysphagia	OMIM:616323
Leigh Syndrome	Respiratory insufficiency, Abnormal pattern of respiration, Respiratory failure	OMIM:256000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure, Achilles tendon contracture, Reduced vital capacity, Nocturnal hypoventilation	OMIM:603689
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Wide mouth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Restrict...	OMIM:253010
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Pulmonary hypoplasia	ORPHA:1486
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	High palate, Delayed eruption of teeth, Short philtrum, Everted lower lip vermilion, Open mouth, ...	OMIM:615866
Ear-Patella-Short Stature Syndrome	Retrognathia, Camptodactyly of finger, Mandibular aplasia, Micrognathia, Bifid uvula, Submucous c...	ORPHA:2554
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Pierre-Robin sequence, Hernia, Micrognathia, Respiratory distress, Downturned corners of mouth, N...	OMIM:217980
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	Camptodactyly of finger, Ventilator dependence with inability to wean, Respiratory failure, Inspi...	OMIM:604320
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Hypodontia, Vaginal hernia, Cleft palate, Macrodontia, Abnormal dental ena...	ORPHA:2916
Sanjad-Sakati Syndrome	Long philtrum, Micrognathia, Abnormal dental enamel morphology, Thin vermilion border, Recurrent ...	ORPHA:2323
Scarf Syndrome	Inguinal hernia, Enamel hypoplasia, Long philtrum, Umbilical hernia	OMIM:312830
Corneodermatoosseous Syndrome	Carious teeth, Gingivitis, Erythema, Abnormal dental enamel morphology	ORPHA:3194
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Scarring, Atrophic scars, Fragile skin, Oral mucosal blisters, Smooth tongue, ...	ORPHA:79396
Mandibulofacial Dysostosis, Guion-Almeida Type	Deep philtrum, Micrognathia, Respiratory distress, Malar flattening, Cleft palate	OMIM:610536
Kagami-Ogata Syndrome	Pulmonary arterial hypertension, Retrognathia, Flexion contracture, Long philtrum, Micrognathia, ...	OMIM:608149
Pitt-Hopkins Syndrome	Tooth malposition, Wide mouth, Short philtrum, Acrocyanosis, Failure of eruption of permanent tee...	ORPHA:2896
Ramos-Arroyo Syndrome	Long philtrum, Respiratory distress, Narrow mouth, Smooth tongue, Carious teeth	ORPHA:1051
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental malocclusion, Talon cusp, Hyperactivity, Narrow palate, Recurrent respiratory infections, ...	ORPHA:353281
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Micrognathia, Respiratory distress, Recurrent pneumonia, Trismus	OMIM:616271
Muscular Dystrophy, Duchenne Type	Knee flexion contracture, Hypoventilation, Flexion contracture, Achilles tendon contracture, Hams...	OMIM:310200
Prader-Willi Syndrome Due To Translocation	Retrognathia, High palate, Wide mouth, Micrognathia, Bifid uvula, Respiratory distress, Everted l...	ORPHA:177907
Gapo Syndrome	Mandibular prognathia, Long philtrum, Delayed eruption of teeth, Micrognathia, Everted lower lip ...	ORPHA:2067
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Inguinal hernia, High palate, Respiratory distress	OMIM:619272
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Spondylocarpotarsal Synostosis Syndrome	Enamel hypoplasia, Failure of eruption of permanent teeth, Inguinal hernia, Restrictive ventilato...	OMIM:272460
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Respiratory insufficiency, Knee flexion contracture, Narrow palate, High palate, Death in infancy...	OMIM:608836
Thyroid Lymphoma	Respiratory distress, Upper airway obstruction, Dyspnea, Stridor, Dysphagia	ORPHA:97285
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in childhood, Pulmonary hypoplasia, Death in infancy	OMIM:614096
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Dental malocclusion, Flexion contracture, Delayed eruption of teeth, M...	ORPHA:666
Kniest Dysplasia	Hip contracture, Respiratory distress, Inguinal hernia, Tracheomalacia, Malar flattening, Umbilic...	OMIM:156550
Congenital Fibrinogen Deficiency	Cyanosis, Gingival bleeding, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Osteoglophonic Dysplasia	Eruption failure, Mandibular prognathia, High palate, Long philtrum, Respiratory distress, Inguin...	OMIM:166250
Mohr Syndrome	Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Median cleft lip, Hypo...	OMIM:252100
Orofaciodigital Syndrome I	Lobulated tongue, Cleft upper lip, Enamel hypoplasia, Bifid tongue, High palate, Tongue nodules, ...	OMIM:311200
Craniolenticulosutural Dysplasia	High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Bifid uvula, Thin upper lip ve...	OMIM:607812
Mucopolysaccharidosis, Type Vi	Pulmonary arterial hypertension, Flexion contracture, Delayed eruption of teeth, Macroglossia, In...	OMIM:253200
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Thick lower lip vermilion, Acrocyanosis, Long philtrum, Joint contracture of the 5th finger	OMIM:614407
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft lip, Bilateral cleft lip, Hypodontia, Velophar...	ORPHA:199302
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Ectodermal dysplasia, Joint contracture of the hand, Oligodontia, Camptodactyly,...	OMIM:601701
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Respiratory distress, Narrow mouth, Tooth agenesis, Hypoplasia of the zygomatic bo...	ORPHA:1555
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Eruption failure, High palate, Long philtrum, Micrognathia, Attention deficit hyperactivity disor...	ORPHA:476126
Smith-Magenis Syndrome	Cleft upper lip, Mandibular prognathia, Delayed eruption of primary teeth, Micrognathia, Taurodon...	ORPHA:819
Melnick-Needles Syndrome	Pulmonary arterial hypertension, Obtuse angle of mandible, Delayed eruption of teeth, Micrognathi...	OMIM:309350
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Delayed eruption of teeth, Premature loss of primary teeth, Brui...	ORPHA:667
Pulmonary Arteriovenous Malformation	Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleu...	ORPHA:2038
Stuve-Wiedemann Syndrome 1	Respiratory insufficiency, Pulmonary arterial hypertension, Knee flexion contracture, Pulmonary a...	OMIM:601559
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Camptodactyly, Submucous cleft hard palate,...	ORPHA:2804
Cranioectodermal Dysplasia 3	Ectodermal dysplasia, Widely spaced teeth, Micrognathia, Everted lower lip vermilion, Peripheral ...	OMIM:614099
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Flexion contracture, Aspiration pneumonia, Delayed eruption of teeth, Widely spaced teeth, Microd...	OMIM:301072
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Flexion contracture, Micrognathia, Pulmonary hypoplasia, Miscarriage, ...	ORPHA:1865
Benign Familial Neonatal Epilepsy	Apnea, Circumoral cyanosis	ORPHA:1949
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Micrognathi...	ORPHA:1071
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Cleft mandible, Prominence of the zygomatic bone, Pierre-Robin sequence, Oligodontia, Everted low...	ORPHA:364577
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Respiratory failure...	OMIM:605711
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Cleft palate, Advanced eruption of teeth	ORPHA:949
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Stomatitis, Pulmonary fibrosis, Respiratory distress	OMIM:612852
Mucopolysaccharidosis Type 4	Hernia, Wide mouth, Grayish enamel, Abnormal dental enamel morphology, Carious teeth, Abnormality...	ORPHA:582
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Recurrent respiratory infections, Bruising susceptibility	ORPHA:3226
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Respiratory insufficiency, Neonatal death, Bilateral lung agenesis	OMIM:601612
Tricuspid Atresia	Cyanosis, Pulmonary artery atresia	ORPHA:1209
3M Syndrome	Everted lower lip vermilion, Abnormal dental enamel morphology, Long philtrum, Delayed eruption o...	ORPHA:2616
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure, Tachypnea	ORPHA:542323
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Interstitial pneumonitis, Dyspnea, Premature loss of teeth, Oral leuko...	OMIM:127550
Hallermann-Streiff Syndrome	Respiratory insufficiency, Natal tooth, Micrognathia, Supernumerary tooth, Narrow mouth, Tracheom...	ORPHA:2108
Rubinstein-Taybi Syndrome 1	Flexion contracture, Micrognathia, Smooth philtrum, Cleft palate, Talon cusp, Narrow palate, Resp...	OMIM:180849
Spondyloenchondrodysplasia	Dental malocclusion, Pneumonia, Delayed eruption of teeth	ORPHA:1855
Hermansky-Pudlak Syndrome	Bruising susceptibility, Epistaxis, Dyspnea, Pulmonary fibrosis, Abnormal dental enamel morphology	ORPHA:79430
Spinocerebellar Ataxia Type 1	Respiratory failure, Dysphagia	ORPHA:98755
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormality of the dentition, Abnormal dental enamel morpho...	ORPHA:3220
Bloom Syndrome	Facial erythema, Cutaneous photosensitivity, Bronchiectasis, Agenesis of maxillary lateral inciso...	OMIM:210900
Pseudohypoparathyroidism Type 1A	Polyphagia, Enamel hypoplasia, Dyspnea, Delayed eruption of teeth	ORPHA:79443
Sotos Syndrome	Mandibular prognathia, High palate, Narrow palate, Advanced eruption of teeth, Attention deficit ...	OMIM:117550
Lymphoid Interstitial Pneumonia	Respiratory tract infection, Abnormality of connective tissue, Subpleural interstitial thickening...	ORPHA:79128
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Craniofaciofrontodigital Syndrome	Pulmonary arterial hypertension, Palmoplantar cutis laxa, Long philtrum, Hernia, Prominent median...	ORPHA:363705
Cleft Larynx, Posterior	Cyanosis, Aspiration	OMIM:215800
Mercury Poisoning	Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress	ORPHA:330021
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Kilquist Syndrome	Mandibular prognathia, Hypoplasia of teeth, Wide mouth	OMIM:619080
Cockayne Syndrome A	Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Cutaneous photosensitivity, Delaye...	OMIM:216400
Multiple Pterygium Syndrome, X-Linked	Cleft upper lip, Flexion contracture, Micrognathia, Pulmonary hypoplasia, Cleft palate	OMIM:312150
Renal Hypodysplasia/Aplasia 1	Retrognathia, Pulmonary hypoplasia	OMIM:191830
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Micrognathia, Respiratory distress, Congenital diaphragmatic herni...	OMIM:613309
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,...	OMIM:618426
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Oslam Syndrome	Carious teeth	ORPHA:2760
Celiac Disease, Susceptibility To, 1	Enamel hypoplasia, Recurrent aphthous stomatitis, Stomatitis	OMIM:212750
Seckel Syndrome	Micrognathia, Prematurely aged appearance, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:808
Mucopolysaccharidosis-Plus Syndrome	Flexion contracture, Recurrent bronchopulmonary infections, Respiratory distress, Macroglossia, R...	OMIM:617303
Andersen-Tawil Syndrome	High palate, Micrognathia, Oligodontia, Hypoplasia of the maxilla, Thin upper lip vermilion, Pers...	ORPHA:37553
Arboleda-Tham Syndrome	Mandibular prognathia, Wide mouth, Recurrent aspiration pneumonia, Short philtrum, Respiratory di...	OMIM:616268
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Long philtrum, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Th...	ORPHA:439822
Cyanosis, Transient Neonatal	Cyanosis, Jaundice	OMIM:613977
Amyotrophic Lateral Sclerosis	Respiratory failure, Abnormal respiratory system physiology, Agitation, Dyspnea	ORPHA:803
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Enamel hypoplasia, Microdontia, Retrognathia	OMIM:210720
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Dentinogenesis imperfecta	OMIM:610915
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Pulmonary edema, Respiratory distress, Macroglossia, Pleural effusion, Apnea	OMIM:261740
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Long philtrum, Bifid uvula, Respiratory distress, Smooth philtrum, Cleft palate, Recurrent respir...	OMIM:300968
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased facial adipose tissue, Premature graying of hair, Minimal subcutaneous fat, Micrognathi...	ORPHA:280365
Doors Syndrome	Aspiration pneumonia, Long philtrum, High palate, Widely spaced teeth, Thick lower lip vermilion,...	ORPHA:79500
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood, Tachypnea	OMIM:615838
Lenz-Majewski Hyperostotic Dwarfism	Knee flexion contracture, Enamel hypoplasia, Mandibular prognathia, Micrognathia, Elbow flexion c...	OMIM:151050
Beemer-Ertbruggen Syndrome	Respiratory insufficiency, Micrognathia, Deep philtrum	ORPHA:1237
Incontinentia Pigmenti	Pulmonary arterial hypertension, Camptodactyly of finger, Delayed eruption of teeth, Hypodontia, ...	ORPHA:464
Barber-Say Syndrome	Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Delayed eruption of teeth, W...	OMIM:209885
Spondyloepiphyseal Dysplasia Congenita	Pierre-Robin sequence, Bifid uvula, Respiratory distress, Restrictive ventilatory defect, Cleft p...	OMIM:183900
Microphthalmia, Lenz Type	Camptodactyly of finger, Delayed eruption of teeth, Abnormality of dental morphology, Orofacial c...	ORPHA:568
Microlissencephaly-Micromelia Syndrome	Long philtrum, Respiratory distress	ORPHA:50810
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:276950
Goodpasture Syndrome	Cyanosis, Pulmonary infiltrates, Pulmonary hemorrhage, Bloody bronchoalveolar lavage fluid, Nodul...	OMIM:233450
Treacher-Collins Syndrome	Respiratory insufficiency, Retrognathia, Cleft upper lip, High palate, Wide mouth, Abnormality of...	ORPHA:861
Opitz Gbbb Syndrome	High palate, Long philtrum, Recurrent aspiration pneumonia, Natal tooth, Dysphagia, Micrognathia,...	ORPHA:2745
Metatropic Dysplasia	Respiratory insufficiency, Respiratory failure, Flexion contracture, Arthrogryposis multiplex con...	OMIM:156530
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Knee flexion contracture, Flexion contracture, Pierre-Robin sequence, High palate, Hip contractur...	OMIM:300868
Dihydropyrimidine Dehydrogenase Deficiency	Retrognathia, High palate, Deep philtrum, Delayed eruption of teeth, Respiratory failure requirin...	ORPHA:1675
Chromosome 6Q24-Q25 Deletion Syndrome	High palate, Long philtrum, Submucous cleft hard palate, Respiratory distress, Thin upper lip ver...	OMIM:612863
Osteopetrosis, Autosomal Recessive 5	Long philtrum, Micrognathia, Stillbirth, Respiratory failure, Gingival overgrowth	OMIM:259720
Rabson-Mendenhall Syndrome	Mandibular prognathia, High palate, Premature graying of hair, Advanced eruption of teeth, Reduce...	ORPHA:769
Cranioectodermal Dysplasia 1	Enamel hypoplasia, Ectodermal dysplasia, High palate, Widely spaced teeth, Microdontia, Hypodonti...	OMIM:218330
Rothmund-Thomson Syndrome, Type 2	Cutaneous photosensitivity, Mandibular prognathia, High palate, Telangiectasia, Premature graying...	OMIM:268400
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Death in adolescence...	OMIM:615512
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia, Anomalous pulmonary venous return, Respiratory failure, Respiratory failure ...	ORPHA:555874
Codas Syndrome	Enamel hypoplasia, Omphalocele, Delayed eruption of teeth	OMIM:600373
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Dyspnea, Respiratory distress, Cough	ORPHA:86812
Wrinkly Skin Syndrome	High palate, Long philtrum, Delayed eruption of teeth, Recurrent sinopulmonary infections, Excess...	ORPHA:2834
Coffin-Siris Syndrome	Oral aversion, Hyperactivity, Aspiration pneumonia, Hernia, Wide mouth, Delayed eruption of teeth...	ORPHA:1465
Barber-Say Syndrome	Wide mouth, Delayed eruption of teeth	ORPHA:1231
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor, Dysphagia	OMIM:207950
Oculopharyngodistal Myopathy 1	High palate, Aspiration, Reduced forced vital capacity, Respiratory distress, Hypercapnia, Restri...	OMIM:164310
Blomstrand Lethal Chondrodysplasia	Long philtrum, Natal tooth, Micrognathia, Pulmonary hypoplasia, Protruding tongue, Malar flattening	ORPHA:50945
Acrocallosal Syndrome	Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle...	OMIM:200990
Digeorge Syndrome	High palate, Atelectasis, Asthma, Micrognathia, Bifid uvula, Short philtrum, Recurrent sinusitis,...	OMIM:188400
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Ramon Syndrome	Telangiectasia, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Angiokeratoma	OMIM:266270
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Gingival overgrowth, Recurrent upper respiratory tract infections, Pan...	ORPHA:508542
Meier-Gorlin Syndrome 1	Flexion contracture, High palate, Joint contracture of the hand, Death in infancy, Micrognathia, ...	OMIM:224690
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Palmoplantar cutis laxa, Respiratory distress, Central apnea, Re...	OMIM:616482
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Dental malocclusion, Cleft upper lip, Pierre-Robin sequence, High pal...	OMIM:300373
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Knee flexion contracture, Bronchiectasis, Micrognathia, Pulmonary hypoplasia, Interstitial emphys...	OMIM:619708
Koolen-De Vries Syndrome	Narrow palate, Microdontia, Hypodontia, Everted lower lip vermilion, Overfriendliness, Cleft pala...	ORPHA:96169
Rothmund-Thomson Syndrome	Selective tooth agenesis, Delayed eruption of teeth, Microdontia, Supernumerary tooth, Telangiect...	ORPHA:2909
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Cleft palate, Pulmonary artery hypoplasia, Cyanosis	ORPHA:2326
Alg1-Cdg	Respiratory failure	ORPHA:79327
Kabuki Syndrome 2	Dental malocclusion, High palate, Lower lip pit, Natal tooth, Hypodontia, Micrognathia, Cleft palate	OMIM:300867
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Cutis marmorata, Thin u...	OMIM:614701
Afibrinogenemia, Congenital	Death in infancy, Bruising susceptibility, Epistaxis, Gingival bleeding, Death in adolescence, Ne...	OMIM:202400
Peripartum Cardiomyopathy	Pulmonary arterial hypertension, Exertional dyspnea, Asthma, Crackles, Orthopnea, Dyspnea, Respir...	ORPHA:563
Mitochondrial Phosphate Carrier Deficiency	Respiratory insufficiency, Cyanosis	OMIM:610773
Premature Aging Syndrome, Penttinen Type	Retrognathia, Lipoatrophy, Delayed eruption of teeth, Keloids, Micrognathia, Narrow philtrum, Hyp...	OMIM:601812
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Breath-Holding Spells	Cyanosis	OMIM:607578
Folinic Acid-Responsive Seizures	Apnea, Respiratory distress	ORPHA:79097
Absence Of The Pulmonary Artery	Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Bronchiectasis, Pulmonary edema, Abnormal ...	ORPHA:980
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Abnormal zygomatic bone morphology...	ORPHA:2769
Dubowitz Syndrome	Respiratory insufficiency, Cutaneous photosensitivity, High palate, Wide mouth, Delayed eruption ...	ORPHA:235
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Narrow mouth, Multiple impacted teeth, Cleft pa...	OMIM:311300
Usher Syndrome	Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology	ORPHA:886
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in infancy, Death in ad...	OMIM:618042
Paternal Uniparental Disomy Of Chromosome 1	Polyphagia, Abnormal dental enamel morphology	ORPHA:251004
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Microdontia, Inguinal hernia, Hypoplasia of the zygomatic bone, Cleft palate, Abnor...	ORPHA:1812
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Micrognathia, Omphalocele, Pulmonary hypoplasia	ORPHA:3035
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flexion contracture, Micrognathia, Pulmonary hypoplasia, Pleural effusion, Cleft palate, Unilater...	OMIM:616897
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Obstructive sleep apnea, Stridor, Intercostal muscle weakness	OMIM:606071
Granulomatous Disease, Chronic, X-Linked	Cellulitis, Pleural effusion, Recurrent pneumonia, Cough, Air bronchogram, Atelectasis	OMIM:306400
Cenani-Lenz Syndrome	Hypodontia, Short philtrum, Malar flattening, High, narrow palate, Abnormal dental enamel morphology	ORPHA:3258
Multiple Pterygium Syndrome, Lethal Type	Micrognathia, Flexion contracture, Pulmonary hypoplasia, Cleft palate	OMIM:253290
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Neonatal death, Respiratory distress, Pulmonary hypoplasia	OMIM:231680
Hypophosphatemic Rickets	Craniofacial asymmetry, Enthesitis, Odontodysplasia, Craniofacial osteosclerosis, Periapical toot...	ORPHA:437
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased facial adipose tissue, Flexion contracture, High palate, Micrognathia, Reduced subcutan...	OMIM:248370
Pfeiffer Syndrome Type 2	High palate, Respiratory distress, Tracheomalacia, Malar flattening, Cleft palate	ORPHA:93259
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental malocclusion, Talon cusp, Hyperactivity, High palate, Narrow palate, Natal tooth, Aspirati...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental malocclusion, Talon cusp, Hyperactivity, High palate, Narrow palate, Natal tooth, Aspirati...	ORPHA:353277
Carpenter Syndrome 1	High palate, Joint contracture of the hand, Micrognathia, Camptodactyly, Agenesis of permanent te...	OMIM:201000
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Micrognathia, Jaundice, Pulmonary hypoplasia, Recurrent pneumonia, Respiratory f...	ORPHA:731
Multiple Pterygium Syndrome, Escobar Variant	Knee flexion contracture, Dental malocclusion, Flexion contracture, High palate, Long philtrum, M...	OMIM:265000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Micrognathia, Pulmonary hypoplasia, Cleft lip, Cleft palate, Neonatal death, Hamarto...	OMIM:617925
Elsahy-Waters Syndrome	Dental malocclusion, Agenesis of incisor, Mandibular prognathia, High palate, Long philtrum, Dela...	OMIM:211380
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Hypogeusia, Acrocyanosis, Decreased sensitivity to hypoxemia	OMIM:223900
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Macroglossia, Abnormal dental enamel morphology, Abnorm...	ORPHA:3071
Fucosidosis	Vascular skin abnormality, Lipoatrophy, Acrocyanosis, Abnormality of the dentition	ORPHA:349
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Bacterial Toxic-Shock Syndrome	Respiratory tract infection, Cellulitis, Fasciitis, Respiratory distress, Ecchymosis, Sinusitis, ...	ORPHA:36234
Chromosome 1Q41-Q42 Deletion Syndrome	Cleft upper lip, High palate, Deep philtrum, Widely spaced teeth, Short philtrum, Pulmonary hypop...	OMIM:612530
Hutchinson-Gilford Progeria Syndrome	Pulmonary arterial hypertension, Retrognathia, Cyanosis, High palate, Exertional dyspnea, Promine...	ORPHA:740
Arnold-Chiari Malformation Type Ii	Cyanosis, Apnea, Dysphagia, Pneumonia, Inspiratory stridor	ORPHA:1136
Granulomatosis With Polyangiitis	Respiratory insufficiency, Pulmonary infiltrates, Oral ulcer, Elevated bronchoalveolar lavage flu...	OMIM:608710
Cornelia De Lange Syndrome 1	Cleft upper lip, High palate, Long philtrum, Widely spaced teeth, Delayed eruption of teeth, Micr...	OMIM:122470
Alg3-Cdg	High palate, Abnormal uvula morphology, Macroglossia, Pulmonary hypoplasia, Lipodystrophy, Arthro...	ORPHA:79321
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	High palate, Short lingual frenulum, Microdontia, Pulmonary hypoplasia, Agenesis of permanent tee...	OMIM:614091
Familial Adenomatous Polyposis 1	Multiple lipomas, Eruption failure, Odontoma, Keloids, Supernumerary tooth, Carious teeth	OMIM:175100
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo...	ORPHA:1329
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood, Dysphagia	OMIM:619847
Congenital Disorder Of Glycosylation, Type Ix	Death in childhood, Respiratory distress	OMIM:615597
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Respiratory distress, Fragile skin, Narrow mouth, Ery...	OMIM:614748
Alternating Hemiplegia Of Childhood	Aspiration, Respiratory distress, Flushing, Apnea, Downturned corners of mouth, Impulsivity, Dysp...	ORPHA:2131
Marden-Walker Syndrome	High palate, Long philtrum, Joint contracture of the hand, Micrognathia, Camptodactyly, Pulmonary...	OMIM:248700
Rothmund-Thomson Syndrome Type 1	Facial erythema, Telangiectasia, Delayed eruption of teeth, Microdontia, Tooth agenesis, Attentio...	ORPHA:221008
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood, Restlessness, Bradypnea	OMIM:617186
Focal Dermal Hypoplasia	Camptodactyly of finger, Hernia, Aplasia/Hypoplasia of the lungs, Abnormality of dental morpholog...	ORPHA:2092
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Hyperactivity, Long philtrum, Delayed eruption of teeth, Narr...	ORPHA:77301
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Mandibular aplasia, Micrognathia, Respiratory distress, Congenital diaphragmatic he...	ORPHA:2556
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Tented upper lip vermilion, Mandibular prognathia, Short philtrum, Delayed eruption of permanent ...	ORPHA:521445
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Enamel hypoplasia, Foot joint contracture, Flexion contracture, Erosion of oral mucosa, Ankyloglo...	ORPHA:79408
Cutis Laxa, Autosomal Dominant 1	Long philtrum, Bronchiectasis, Emphysema, Inguinal hernia, Progeroid facial appearance, Dyspnea, ...	OMIM:123700
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Anomalous pulmonary venous return, Hypoxemia, Tachypnea	ORPHA:860
Serkal Syndrome	Congenital diaphragmatic hernia, Pulmonary hypoplasia, Orofacial cleft	ORPHA:139466
Good Syndrome	Bronchiectasis, Dyspnea, Sinusitis, Cough, Dysphagia, Recurrent respiratory infections	ORPHA:169105
Fgfr2-Related Bent Bone Dysplasia	Micrognathia, Gingival overgrowth, Natal tooth	ORPHA:313855
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Attention deficit hyperactivity disorder, Shagreen pat...	OMIM:191100
Leigh Syndrome With Cardiomyopathy	Respiratory distress, Apnea, Central hypoventilation, Dysphagia, Respiratory failure	ORPHA:70474
Intellectual Developmental Disorder, Autosomal Dominant 54	Delayed eruption of primary teeth, Widely spaced teeth, Apnea, Dental crowding, Hyperventilation	OMIM:617799
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long philtrum, Recurrent respiratory infections, Short philtrum, Pulmonary hypoplasia, Thin upper...	OMIM:618316
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiorespiratory arrest, Restrictive ventilatory defect, Dyspnea, Dysphagia, Respiratory failure	ORPHA:26791
Congenital Tracheal Stenosis	Cyanosis, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal lung lobation,...	ORPHA:141127
Atrial Septal Defect, Ostium Primum Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal respiratory system physio...	ORPHA:99106
Acrodysostosis 1 With Or Without Hormone Resistance	Dental malocclusion, Mandibular prognathia, Delayed eruption of teeth, Hypodontia, Hypoplasia of ...	OMIM:101800
Campomelic Dysplasia	Irregular dentition, Tracheobronchomalacia, High palate, Long philtrum, Micrognathia, Submucous c...	OMIM:114290
Nail-Patella Syndrome	Knee flexion contracture, Enamel hypoplasia, Flexion contracture, Elbow flexion contracture, Achi...	ORPHA:2614
Keppen-Lubinsky Syndrome	Respiratory insufficiency, Flexion contracture, High palate, Micrognathia, Premature skin wrinkli...	ORPHA:435628
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Hypoventilation, Recurrent lower respiratory tract infections, Asthma, Cardiorespirator...	ORPHA:293987
Schinzel-Giedion Syndrome	Retrognathia, High palate, Wide mouth, Delayed eruption of teeth, Micrognathia, Broad alveolar ri...	ORPHA:798
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Congenital Disorder Of Glycosylation, Type Iim	Enamel hypoplasia, Mandibular prognathia, High palate, Short philtrum, Fused teeth, Open mouth, E...	OMIM:300896
Sepsis In Premature Infants	Cyanosis, Petechiae, Nasal flaring, Jaundice, Abnormal respiratory system physiology, Purpura, Dy...	ORPHA:90051
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, Inguinal hernia...	ORPHA:2250
Peroxisome Biogenesis Disorder 1A (Zellweger)	High palate, Micrognathia, Macroglossia, Pulmonary hypoplasia, Protruding tongue, Dysphagia, Neon...	OMIM:214100
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Hip contracture, Delayed eruption of teeth, Micrognathia, Camptodactyl...	OMIM:259600
Platyspondylic Dysplasia, Torrance Type	Cleft palate, Malar flattening, Pulmonary hypoplasia	ORPHA:85166
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypoplasia of the tooth germ, Micrognathia, Bifid uvula, Contracture of the proximal interphalang...	ORPHA:293967
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Histiocytoid Cardiomyopathy	Cyanosis, Pulmonary edema, Cough, Cleft palate, Tachypnea	ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Cyanosis, Respiratory failure, Death in infancy, Apnea, Tongue fascicu...	OMIM:252010
3-Methylglutaconic Aciduria, Type Viii	Respiratory failure, Death in infancy, Jaundice, Apnea, Dysphagia, Hypopnea, Respiratory arrest, ...	OMIM:617248
Mgat2-Cdg	Recurrent upper and lower respiratory tract infections, Dental crowding, Open mouth, Respiratory ...	ORPHA:79329
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Cleft palate,...	ORPHA:250999
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata, Abnormal dental pulp morphology, Rootless teeth, Abnormality of th...	ORPHA:416
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Flexion contracture, Cleft soft palate, Delayed eruption of teeth, Micrognathia, Reduced subcutan...	OMIM:619503
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Purpura, Acrocyanosis, Erythema, Urticaria	ORPHA:343
Ethylene Glycol Poisoning	Cyanosis, Pulmonary edema, Abnormal pattern of respiration, Alcoholism, Episodic respiratory dist...	ORPHA:31826
Dubowitz Syndrome	Hyperactivity, High palate, Delayed eruption of teeth, Micrognathia, Velopharyngeal insufficiency...	OMIM:223370
Gapo Syndrome	Eruption failure, Long philtrum, Thick lower lip vermilion, Micrognathia, Prominent scalp veins, ...	OMIM:230740
Letterer-Siwe Disease	Pulmonary infiltrates, Jaundice, Dyspnea, Stomatitis	OMIM:246400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Wide mouth, Micrognathia, Abnormality of dental morphology, Thick vermilion border, Abnormal pala...	ORPHA:85199
Microphthalmia, Syndromic 9	Respiratory insufficiency, Agenesis of pulmonary vessels, Bilateral lung agenesis, Micrognathia, ...	OMIM:601186
Microcephaly-Micromelia Syndrome	Micrognathia, Pulmonary hypoplasia, Narrow mouth, Cleft palate, Neonatal death	OMIM:251230
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Multiple Carboxylase Deficiency	Respiratory distress, Tachypnea	ORPHA:148
Rothmund-Thomson Syndrome Type 2	Facial erythema, High palate, Delayed eruption of teeth, Microdontia, Tooth agenesis, Erythema, C...	ORPHA:221016
Keppen-Lubinsky Syndrome	Respiratory insufficiency, Flexion contracture, High palate, Micrognathia, Short philtrum, Recurr...	OMIM:614098
Ulbright-Hodes Syndrome	Pneumothorax, High palate, Micrognathia, Respiratory distress, Pulmonary hypoplasia, Narrow mouth...	ORPHA:3404
Hsd10 Disease, Infantile Type	Cyanosis, Restlessness, Dysphagia	ORPHA:391428
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Micrognathia, Abnormal lung lobation, Short philtr...	ORPHA:958
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Pulmonary hypoplasia, Respiratory distress, Stillbirth	OMIM:151210
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Gingivitis, Cutaneous photosensitivity, Flexion contracture, Periodontit...	ORPHA:2908
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Rajab Interstitial Lung Disease With Brain Calcifications 1	Respiratory insufficiency, Abnormal pulmonary interstitial morphology, High palate, Emphysema, In...	OMIM:613658
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Holoprosencephaly 9	Dental malocclusion, Agenesis of incisor, Cleft upper lip, Hypoplasia of the premaxilla, Short ph...	OMIM:610829
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cyanosis, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Reduced FEV1/FVC ratio, Pul...	OMIM:187300
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hypodontia, Supernumerary tooth, Respiratory distress, Median cleft lip, Accessory oral frenulum	OMIM:617088
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Pulmonary hypoplasia, Inguinal...	ORPHA:2990
Smith-Lemli-Opitz Syndrome	Cutaneous photosensitivity, Bifid tongue, Long philtrum, Wide mouth, Micrognathia, Advanced erupt...	ORPHA:818
Lacrimoauriculodentodigital Syndrome	Enamel hypoplasia, Micrognathia, Microdontia, Bifid uvula, Hypodontia, Orofacial cleft, Abnormal ...	ORPHA:2363
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Micrognathia, Abnormality of dental morphol...	ORPHA:369950
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Agitation	ORPHA:927
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Anomalous origin of left pulmonary artery from ascendi...	ORPHA:99050
Telangiectasia, Hereditary Hemorrhagic, Type 4	Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Spontaneous, recurrent epistaxis, P...	OMIM:610655
Osteopetrosis With Renal Tubular Acidosis	Pulmonary arterial hypertension, Retrognathia, Tooth malposition, Prominence of the zygomatic bon...	ORPHA:2785
Myhre Syndrome	Respiratory insufficiency, Mandibular prognathia, Short philtrum, Camptodactyly, Hypoplasia of th...	OMIM:139210
Singleton-Merten Syndrome 1	Cutaneous photosensitivity, Eruption failure, Pleural effusion, Thin upper lip vermilion, Carious...	OMIM:182250
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Hypodontia, Oligodontia, Scarring, Erythema	OMIM:308300
Scimitar Syndrome	Pulmonary arterial hypertension, Pulmonary sequestration, Pneumothorax, Hernia, Respiratory distr...	ORPHA:185
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Long philtrum, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Microdo...	OMIM:615873
Atrial Septal Defect, Ostium Secundum Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Breathing dysregulation, Increased...	ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Increased pulmonary vascular resis...	ORPHA:99104
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Cyanosis, Sudden episodic apnea	ORPHA:159
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Pulmonary artery stenosis...	ORPHA:96334
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Isolated Arrhinia	Hypoplasia of the nasal bone, Respiratory distress	ORPHA:1134
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate, Thin upper lip...	OMIM:300990
Lethal Congenital Contracture Syndrome 10	High palate, Long philtrum, Narrow palate, Micrognathia, Macroglossia, Pulmonary hypoplasia, Omph...	OMIM:617022
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Acrocyanosis	ORPHA:1867
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory insufficiency, Flexion contracture, Respiratory distress, Generalized abnormality of ...	ORPHA:367
Zimmermann-Laband Syndrome 1	Mandibular prognathia, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Gingiva...	OMIM:135500
Myotonic Dystrophy 1	Respiratory distress, Dysphagia	OMIM:160900
Oculodentodigital Dysplasia	Camptodactyly of finger, Non-midline cleft lip, Mandibular prognathia, Micrognathia, Broad alveol...	ORPHA:2710
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Nocardiosis	Pneumothorax, Productive cough, Cellulitis, Pleuritis, Respiratory distress, Emphysema, Pleural e...	ORPHA:31204
Pallister-Hall Syndrome	Cleft upper lip, Natal tooth, Abnormal lung lobation, Microglossia, Cleft palate, Neonatal death	OMIM:146510
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Knee flexion contracture, Flexion contracture, Asthma, Elbow flexion con...	ORPHA:3206
Cockayne Syndrome	Enamel hypoplasia, Dental malocclusion, Cutaneous photosensitivity, Abnormal number of teeth, Del...	ORPHA:191
Costello Syndrome	Respiratory insufficiency, Pneumothorax, High palate, Thick lower lip vermilion, Micrognathia, Ac...	OMIM:218040
Cockayne Syndrome Type 3	Enamel hypoplasia, Cutaneous photosensitivity, Flexion contracture, Premature graying of hair, Ca...	ORPHA:90324
Pfeiffer Syndrome Type 3	Tracheomalacia, High palate, Respiratory distress, Cleft palate	ORPHA:93260
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Neonat...	ORPHA:2847
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension	OMIM:613845
Isolated Right Ventricular Hypoplasia	Dyspnea, Cyanosis, Hypoxemia	ORPHA:439
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pulmonary arterial hypertension, Flexion contracture, Hernia, Respiratory distress, Macroglossia,...	ORPHA:505248
Restrictive Dermopathy 1	Flexion contracture, Natal tooth, Prominent superficial blood vessels, Temporomandibular joint an...	OMIM:275210
Czeizel-Losonci Syndrome	High palate, Micrognathia, Pulmonary hypoplasia, Posterolateral diaphragmatic hernia, Aplasia of ...	ORPHA:2437
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia	ORPHA:2141
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Turnpenny-Fry Syndrome	Dental malocclusion, Mandibular prognathia, High palate, Widely spaced teeth, Microdontia, Dental...	OMIM:618371
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of dental morphology, Scarring, Recurrent pneumonia, Fragile skin, Abnormal tongue mo...	ORPHA:158668
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Gardner Syndrome	Odontoma, Keloids, Supernumerary tooth, Multiple unerupted teeth, Lipoma, Abnormality of the dent...	ORPHA:79665
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Bifid tongue, Narrow palate, High palate, Delayed eruption of teeth, Short lingual ...	OMIM:180700
Oligomeganephronia	Micrognathia, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Pulmonary venous occlusion, ...	ORPHA:2260
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Death in infancy	OMIM:614862
Toxic Epidermal Necrolysis	Abnormal pleura morphology, Respiratory distress, Restrictive ventilatory defect, Cough, Erythema...	ORPHA:537
Shwachman-Diamond Syndrome	Oral ulcer, Delayed eruption of teeth, Sinusitis, Carious teeth, Pneumonia	ORPHA:811
Endocrine-Cerebroosteodysplasia	Thick upper lip vermilion, Natal tooth, Bilateral cleft lip, Micrognathia, Median cleft lip, Medi...	OMIM:612651
Distal Tetrasomy 15Q	Retrognathia, Flexion contracture, High palate, Hernia, Micrognathia, Camptodactyly, Pulmonary hy...	ORPHA:314588
Congenital Disorder Of Deglycosylation 1	Central sleep apnea, Impaired oropharyngeal swallow response, Respiratory distress, Impaired oral...	OMIM:615273
Nasolacrimal Duct Cyst	Abnormal breath sound, Cellulitis, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic...	ORPHA:141083
Thanatophoric Dysplasia	Respiratory insufficiency, Pulmonary hypoplasia	ORPHA:2655
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary arterial hypertension, Aortopulmonary window, Micrognathia, Pulmonary hypoplasia, Pulmo...	OMIM:620025
Stickler Syndrome	Cleft upper lip, Long philtrum, Recurrent respiratory infections, Micrognathia, Advanced eruption...	ORPHA:828
Hemorrhagic Fever-Renal Syndrome	Petechiae, Pulmonary edema, Respiratory distress, Agitation, Ecchymosis, Pleural effusion, Epista...	ORPHA:340
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Persistence of primary teeth, Calvarial osteosclerosis	ORPHA:93325
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Episodic tachypnea, Jaundice, Respiratory distress, Pneumonia, Tachypnea	ORPHA:26793
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Dental malocclusion, High palate, Inguinal hernia, Cleft lip, Cleft p...	OMIM:603457
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2036
Bickerstaff Brainstem Encephalitis	Respiratory tract infection, Hypercapnia, Dyspnea, Respiratory failure, Respiratory failure requi...	ORPHA:79138
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure, Telangiectasia of the skin	ORPHA:679
Dravet Syndrome	Impulsivity, Cyanotic episode	ORPHA:33069
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Fructose-1,6-Bisphosphatase Deficiency	Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre...	ORPHA:348
Kindler Syndrome	Gingivitis, Cutaneous photosensitivity, Dysphagia, Periodontitis, Fragile skin, Oral leukoplakia,...	OMIM:173650
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Respiratory distress	OMIM:618201
Cockayne Syndrome B	Dental malocclusion, Cutaneous photosensitivity, Mandibular prognathia, Delayed eruption of prima...	OMIM:133540
Robinow Syndrome	Marked delay in eruption of permanent teeth, Dental malocclusion, Tooth malposition, Bifid tongue...	ORPHA:97360
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Criss-Cross Heart	Respiratory insufficiency, Cyanosis	ORPHA:1461
Apert Syndrome	Dental malocclusion, Mandibular prognathia, Narrow palate, Delayed eruption of teeth, Bifid uvula...	OMIM:101200
Short Rib-Polydactyly Syndrome	Respiratory failure, Cleft palate, Cleft lip, Orofacial cleft	ORPHA:1505
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Pulmonary artery ...	OMIM:611812
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Delayed eruption of teeth, Micrognathia, Reduced subcutaneous adipose tissue...	OMIM:264090
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Infantile Krabbe Disease	Respiratory failure, Respiratory distress	ORPHA:206436
Mosaic Trisomy 1	Short upper lip, Camptodactyly of finger, Wide mouth, Thick lower lip vermilion, Elbow flexion co...	ORPHA:1692
Atelosteogenesis Type I	Micrognathia, Pulmonary hypoplasia, Cleft palate	ORPHA:1190
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Gingivitis, Oral ulcer, Periodontitis, Bruising susceptibility, Epistaxis, Delayed eruption of pe...	ORPHA:79259
Orofaciodigital Syndrome Type 1	Lobulated tongue, Lip pit, High palate, Tongue nodules, Micrognathia, Broad alveolar ridges, Hypo...	ORPHA:2750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Micrognathia, Respiratory distress, Pulmonary hypoplasia, Inguinal hernia, Contract...	ORPHA:83617
Cocaine Intoxication	Pulmonary infiltrates, Pneumothorax, Pulmonary edema, Wheezing, Respiratory distress, Diffuse alv...	ORPHA:90068
Tetrasomy 9P	Pulmonary arterial hypertension, Hyperactivity, Abnormal number of permanent teeth, High palate, ...	ORPHA:3310
Atelosteogenesis Type Ii	Tracheobronchomalacia, Long philtrum, Micrognathia, Elbow flexion contracture, Camptodactyly, Pul...	ORPHA:56304
Lacrimoauriculodentodigital Syndrome 1	Enamel hypoplasia, Delayed eruption of primary teeth, Microdontia, Absence of Stensen duct, Hypod...	OMIM:149730
Poliomyelitis	Respiratory failure, Respiratory failure requiring assisted ventilation, Agitation, Dysphagia	ORPHA:2912
Telangiectasia, Hereditary Hemorrhagic, Type 2	Pulmonary arterial hypertension, Palate telangiectasia, Cyanosis, Gastrointestinal telangiectasia...	OMIM:600376
Buerger Disease	Acrocyanosis	ORPHA:36258
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Respiratory failure	OMIM:609015
Fontaine Progeroid Syndrome	Respiratory insufficiency, Pneumothorax, Recurrent aspiration pneumonia, Microdontia, Micrognathi...	OMIM:612289
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia	OMIM:187600
Fryns Syndrome	Non-midline cleft lip, High palate, Long philtrum, Wide mouth, Micrognathia, Pulmonary hypoplasia...	ORPHA:2059
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Neu-Laxova Syndrome	Retrognathia, Abnormality of the philtrum, Flexion contracture, Micrognathia, Bifid uvula, Submuc...	ORPHA:2671
Caudal Regression Syndrome	Impulsivity, Pulmonary hypoplasia, Orofacial cleft	ORPHA:3027
Idiopathic Hypereosinophilic Syndrome	Pulmonary infiltrates, Pulmonary embolism, Asthma, Respiratory distress, Cutis marmorata, Vasculi...	ORPHA:3260
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Retrognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Dyspnea, Respiratory failur...	ORPHA:2636
Tuberous Sclerosis Complex	Respiratory tract infection, Hyperactivity, Respiratory distress, Impulsivity, Attention deficit ...	ORPHA:805
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Bifid tongue, Long philtrum, Wide mouth, Micrognathia, Dental crowding, Macroglossi...	OMIM:268310
Coffin-Lowry Syndrome	Dental malocclusion, Mandibular prognathia, Narrow palate, High palate, Widely spaced teeth, Thic...	OMIM:303600
Unilateral Polymicrogyria	Cyanosis, Pseudobulbar paralysis, Pulmonary arteriovenous malformation, Epistaxis, Apnea	ORPHA:268943
Wrinkly Skin Syndrome	High palate, Long philtrum, Palmoplantar cutis laxa, Delayed eruption of teeth, Microdontia, Micr...	OMIM:278250
Dermatomyositis	Respiratory insufficiency, Pulmonary arterial hypertension, Cutaneous photosensitivity, Abnormal ...	ORPHA:221
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Pierre-Robin sequence, Hypoplastic frontal sinuses, Micrognathia, Oligod...	ORPHA:90652
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Flexion contracture, Respiratory distress, Apnea, Recurrent respiratory infections, Orofacial cleft	ORPHA:17
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Multiple joint contractures, Dysphagia	ORPHA:506
Renal Tubular Dysgenesis	Respiratory insufficiency, Pulmonary hypoplasia	OMIM:267430
Autosomal Recessive Hypophosphatemic Rickets	Enthesitis, Tooth abscess, Delayed eruption of teeth	ORPHA:289176
Poems Syndrome	Pulmonary arterial hypertension, Acrocyanosis, Pleural effusion, Lipodystrophy, Restrictive venti...	ORPHA:2905
Focal Dermal Hypoplasia	Enamel hypoplasia, Dental malocclusion, Cleft upper lip, Telangiectasia, Delayed eruption of teet...	OMIM:305600
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Death in infancy, Dyspnea, Respiratory failure, Death in childhood	OMIM:610505
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Wide mouth, Bifid uvula, Submucous cleft hard palate, Facial hyperostosis,...	ORPHA:2658
Specc1L-Related Hypertelorism Syndrome	Long philtrum, Advanced eruption of teeth, Everted lower lip vermilion, Thin vermilion border, Om...	ORPHA:1519
Lethal Congenital Contracture Syndrome 9	Micrognathia, Thin upper lip vermilion, Pulmonary hypoplasia, Congenital contracture	OMIM:616503
Lymphatic Malformation 7	Pleural effusion, Respiratory distress, Pulmonary edema, Chylothorax	OMIM:617300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Pulmonary embolism, Jaundice, Glossitis, Respiratory distress, S...	ORPHA:79282
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Short philtrum, Unilateral lung agenesis, Emphysema, Hypoplasia of the maxilla, Subm...	ORPHA:500150
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Pulmonary hypoplasia, Miscarriage, Neonatal respiratory distres...	ORPHA:96179
Mitochondrial Trifunctional Protein Deficiency	Respiratory insufficiency, Respiratory failure	ORPHA:746
Familial Adenomatous Polyposis	Eruption failure, Odontoma, Supernumerary tooth, Lipoma, Abnormal cementum morphology, Abnormalit...	ORPHA:733
8Q24.3 Microdeletion Syndrome	Hyperactivity, Long philtrum, Cleft maxillary alveolar ridge, Abnormal lung lobation, Respiratory...	ORPHA:508488
Congenital Enterovirus Infection	Pleural effusion, Respiratory distress	ORPHA:292
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Eec Syndrome	Microdontia, Taurodontia, Tooth agenesis, Abnormal dental enamel morphology, Carious teeth, Cleft...	ORPHA:1896
Cardiomyopathy, Familial Hypertrophic, 4	Dyspnea, Respiratory distress, Pulmonary edema	OMIM:115197
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Chilton-Okur-Chung Neurodevelopmental Syndrome	Agenesis of incisor, Mandibular prognathia, Wide mouth, Widely spaced teeth, Asthma, Micrognathia...	OMIM:619841
Myasthenia Gravis	Acrocyanosis, Dyspnea, Dysphagia	ORPHA:589
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	High palate, Long philtrum, Micrognathia, Pulmonary hypoplasia, Congenital diaphragmatic hernia, ...	OMIM:614080
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Camurati-Engelmann Disease	Carious teeth, Craniofacial osteosclerosis, Abnormal subcutaneous fat tissue distribution, Delaye...	ORPHA:1328
Inhalational Anthrax	Dyspnea, Respiratory distress	ORPHA:247257
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Pulmonary arterial hypertension, Camptodactyly of finger, Flexion contracture, High palate, Long ...	OMIM:143095
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Respiratory failure	OMIM:618329
Listeriosis	Jaundice, Respiratory distress, Miscarriage, Respiratory failure, Pneumonia	ORPHA:533
Microphthalmia, Syndromic 2	Dental malocclusion, Flexion contracture, Long philtrum, Delayed eruption of teeth, Oligodontia, ...	OMIM:300166
Niemann-Pick Disease Type C	Respiratory insufficiency, Pulmonary infiltrates, Aspiration pneumonia, Dysphagia, Jaundice, Abno...	ORPHA:646
Ogden Syndrome	Thick upper lip vermilion, Everted upper lip vermilion, Minimal subcutaneous fat, Micrognathia, P...	OMIM:300855
Q Fever	Abnormal pulmonary interstitial morphology, Purpura, Respiratory distress, Pleural effusion, Coug...	ORPHA:781
Peters-Plus Syndrome	Cleft upper lip, Long philtrum, Widely spaced teeth, Short lingual frenulum, Micrognathia, Agenes...	OMIM:261540
Cryptococcosis	Nodular pattern on pulmonary HRCT, Respiratory distress, Pleural effusion, Dyspnea, Cough, Pneumonia	ORPHA:1546
Craniosynostosis And Dental Anomalies	Dental malocclusion, Mandibular prognathia, Narrow palate, High palate, Delayed eruption of teeth...	OMIM:614188
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft mandible, Pierre-Robin sequence, High palate, Micrognathia, Cleft lower alveolar ridge, Bif...	OMIM:268305
Meckel Syndrome, Type 1	Camptodactyly of finger, Lobulated tongue, Cleft upper lip, Wide mouth, Natal tooth, Micrognathia...	OMIM:249000
Orofaciodigital Syndrome Type 4	Retrognathia, Camptodactyly of finger, Bilateral lung agenesis, Micrognathia, Oral synechia, Bifi...	ORPHA:2753
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Wide mouth, Asthma, Nasal flaring, Thin upper lip vermilion, Downturned corners of mouth, Attenti...	ORPHA:466943
Pallister-Killian Syndrome	Flexion contracture, Delayed eruption of teeth, Micrognathia, Bifid uvula, Pulmonary hypoplasia, ...	OMIM:601803
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Cleft upper lip, Flexion contracture, Micrognathia, Pulmonary hypoplasia, Erythema, Stillbirth, U...	OMIM:308050
Pentalogy Of Cantrell	Non-midline cleft lip, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Cleft palate, Ompha...	ORPHA:1335
Japanese Encephalitis	Respiratory paralysis, Pulmonary edema, Irregular respiration, Elbow flexion contracture, Respira...	ORPHA:79139
Hypermobile Ehlers-Danlos Syndrome	Gingivitis, Microdontia, Acrocyanosis, Genital hernia, Apnea, Inguinal hernia, Abnormal palate mo...	ORPHA:285
Classical Ehlers-Danlos Syndrome	Pulp calcification, Incisional hernia, Acrocyanosis, Atrophic scars, Bruising susceptibility, Ecc...	ORPHA:287
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Enamel hypoplasia, Joint contracture of the hand, Keloids, Corneal scarring	OMIM:309000
Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Flexion contracture, Long philtrum, Multiple joint contractures, Micro...	ORPHA:536471
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Micrognathia, Elbow contracture, Narrow mouth, Stillbirth, Respiratory...	OMIM:304120
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Rhinitis, Oral synechia, Respiratory distress, Oral-pharyngeal dysphagia, Cough, Oral mucosal bli...	ORPHA:95455
Genitopatellar Syndrome	Knee flexion contracture, Hip contracture, Delayed eruption of teeth, Micrognathia, Pulmonary hyp...	OMIM:606170
Meckel Syndrome, Type 6	Cleft palate, Cleft upper lip, Bilobed right lung, Pulmonary hypoplasia	OMIM:612284
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Wrist flexion contracture, Respiratory distress, Aspiration	OMIM:618733
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Mosaic Trisomy 16	Abnormal lung morphology, Pulmonary hypoplasia, Wide mouth, Craniofacial asymmetry	ORPHA:1708
Charge Syndrome	Respiratory insufficiency, Cleft upper lip, Delayed eruption of teeth, Abnormal soft palate morph...	ORPHA:138
Steinert Myotonic Dystrophy	Respiratory insufficiency, Oral-pharyngeal dysphagia, Abnormality of the tongue muscle, Respirato...	ORPHA:273
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Dysphagia	ORPHA:488627
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia	OMIM:601163
Sponastrime Dysplasia	Obtuse angle of mandible, Mandibular prognathia, Hypoplasia of the dental root, Microdontia, Recu...	ORPHA:93357
Vacterl With Hydrocephalus	Retrognathia, Micrognathia, Pulmonary hypoplasia, Inguinal hernia, Femoral hernia	ORPHA:3412
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary edema, Abnorma...	ORPHA:3384
Congenital Total Pulmonary Venous Return Anomaly	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Cardiac total anomalous pulmonary ...	ORPHA:99125
Thoracoabdominal Syndrome	Cleft upper lip, Ventral hernia, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Cleft pal...	OMIM:313850
Restrictive Dermopathy	Camptodactyly of finger, Multiple joint contractures, Natal tooth, Temporomandibular joint ankylo...	ORPHA:1662
Fetal Akinesia Deformation Sequence 1	Camptodactyly of finger, Wrist flexion contracture, High palate, Long philtrum, Hip contracture, ...	OMIM:208150
Alg9-Cdg	Long philtrum, Wide mouth, Asthma, Micrognathia, Bifid uvula, Abnormal lung lobation, Pulmonary h...	ORPHA:79328
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Coffin-Siris Syndrome 1	Retrognathia, Conical tooth, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, T...	OMIM:135900
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Prolonged neonatal jaundice, Respiratory distress	OMIM:274150
Renal Agenesis, Bilateral	Non-midline cleft lip, Pulmonary hypoplasia, Cleft palate	ORPHA:1848
Orofaciodigital Syndrome Xiv	Lobulated tongue, Bifid tongue, Natal tooth, Micrognathia, Supernumerary tooth, Microretrognathia...	OMIM:615948
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Fryns Syndrome	Cleft upper lip, Long philtrum, Wide mouth, Joint contracture of the hand, Camptodactyly, Pulmona...	OMIM:229850
Aortic Arch Interruption	Cyanosis, Aortopulmonary window, Exertional dyspnea, Respiratory distress, Tachypnea	ORPHA:2299
Eosinophilic Fasciitis	Fasciitis, Acrocyanosis, Cellulitis	ORPHA:3165
Achondrogenesis, Type Ia	Protruding tongue, Pulmonary hypoplasia, Stillbirth	OMIM:200600
Coccidioidomycosis	Pulmonary infiltrates, Parenchymal consolidation, Pleural empyema, Exudative pleural effusion, Re...	ORPHA:228123
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Death in infancy, Partial anomalous pulmonary venous return	OMIM:617478
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Pulmonary arterial hypertension, Respiratory distress	ORPHA:2519
Floating-Harbor Syndrome	Wide mouth, Microdontia, Oligodontia, Short philtrum, Hypoplasia of the maxilla, Impulsivity, Att...	ORPHA:2044
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Interstitial pneumonitis, Respiratory distress, Pneumonia, Urti...	ORPHA:37042
Rare Circulatory System Disease	Cyanosis, Elbow flexion contracture	ORPHA:98028
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Cleft upper lip, Micrognathia, Pulmonary hypoplasia, Congeni...	OMIM:273395
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	High palate, Long philtrum, Thick vermilion border, Respiratory distress, Recurrent upper and low...	ORPHA:480880
Greenberg Dysplasia	Retrognathia, Micrognathia, Abnormal lung lobation, Pulmonary hypoplasia, Hypoplasia of the maxil...	OMIM:215140
Aicardi-Goutieres Syndrome 1	Petechiae, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice	OMIM:225750
Heterotaxy, Visceral, 1, X-Linked	Cyanosis, Bilateral trilobed lung, Respiratory distress, Total anomalous pulmonary venous return,...	OMIM:306955
Proteus Syndrome	Pulmonary embolism, Neoplasm of the lung, Abnormal subcutaneous fat tissue distribution, Abnormal...	ORPHA:744
Fraser Syndrome	Dental malocclusion, Cleft upper lip, Bifid tongue, High palate, Death in infancy, Abnormal lung ...	ORPHA:2052
Distal Monosomy 15Q	Bifid tongue, Micrognathia, Short philtrum, Pulmonary hypoplasia, Thin upper lip vermilion, Conge...	ORPHA:1596
Biotinidase Deficiency	Apnea, Hyperventilation, Respiratory distress	ORPHA:79241
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Pulmonary artery hypoplasia, Pulmonary artery atresia, Total anomalous pulmonary venous...	OMIM:616749
Sotos Syndrome	Bilateral camptodactyly, Flexion contracture, Pulmonary bleb, Hip contracture, Hypodontia, No per...	ORPHA:821
Pallister-Hall Syndrome	Respiratory insufficiency, Distal arthrogryposis, Natal tooth, Bifid uvula, Abnormal lung lobatio...	ORPHA:672
Acrorenal-Mandibular Syndrome	High palate, Narrow palate, Micrognathia, Elbow flexion contracture, Pulmonary hypoplasia, Congen...	OMIM:200980
Acquired Purpura Fulminans	Macular purpura, Acrocyanosis	ORPHA:49566
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cleft palate, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:616546
Cornelia De Lange Syndrome	High palate, Long philtrum, Widely spaced teeth, Delayed eruption of teeth, Micrognathia, Cutis m...	ORPHA:199
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Respiratory insufficiency, Death in infancy, Jaundice, Pulmonary hypoplasia, Recurrent respirator...	OMIM:208500
Joubert Syndrome 21	Apnea, Dyspnea, Pulmonary hypoplasia	OMIM:615636
Eisenmenger Syndrome	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Aortopulmonary window, Hypoxemia, ...	ORPHA:97214
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Jaundice, Respiratory distress, Death in infancy	OMIM:617156
Atrioventricular septal defect 3	Pulmonary arterial hypertension, Cyanosis	OMIM:600309
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Pulmonary hypoplasia, Stillbirth	OMIM:615415
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis	OMIM:620067
Shwachman-Diamond Syndrome 1	Neonatal respiratory distress, Respiratory distress	OMIM:260400
Meacham Syndrome	Neonatal death, Cardiac total anomalous pulmonary venous connection, Death in infancy, Congenital...	OMIM:608978
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Polydipsia	ORPHA:47159
Mowat-Wilson Syndrome	Widely spaced teeth, Delayed eruption of teeth, Submucous cleft hard palate, Pulmonary artery sli...	OMIM:235730
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Corneal scarring, Jaundice, Prolonged neonatal jaundice, Respiratory distress	OMIM:256810
Neu-Laxova Syndrome 1	Cleft upper lip, Joint contracture of the hand, Yellow subcutaneous tissue covered by thin, scaly...	OMIM:256520
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Hyperparathyroidism, Transient Neonatal	Inguinal hernia, Respiratory distress, Umbilical hernia	OMIM:618188
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Dysphagia, Hyperventilation, Episodic respiratory distress	ORPHA:255210
Abetalipoproteinemia	Respiratory failure	ORPHA:14
Familial Dysautonomia	Abnormal pleura morphology, Recurrent respiratory infections, Acrocyanosis	ORPHA:1764
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Pulmonary hypoplasia	OMIM:314390
Colchicine Poisoning	Cardiorespiratory arrest, Respiratory distress	ORPHA:31824
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Inguinal hernia, Abnormal dental enamel morphology, Erythema, Omphalocel...	ORPHA:2273
Plague	Chapped lip, Glossitis, Respiratory distress, Acute infectious pneumonia	ORPHA:707
Wiedemann-Rautenstrauch Syndrome	Retrognathia, Camptodactyly of finger, Lipoatrophy, Natal tooth, Hypodontia, Reduced subcutaneous...	ORPHA:3455
Kasabach-Merritt Syndrome	Hypopnea, Purpura, Respiratory distress, Petechiae	ORPHA:2330
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pulmonary hypoplasia, Median cleft lip, Microglossia, Cleft palate, Hamartoma of tongue	OMIM:263520
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Respiratory insufficiency, Cleft upper lip, Bifid tongue, Long philtrum, Micrognathia, Pulmonary ...	ORPHA:93271
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Long philtrum, Multiple joint contractures, Respiratory distress, Recurrent pneumon...	ORPHA:99646
Smith-Lemli-Opitz Syndrome	Hyperactivity, Long philtrum, Death in infancy, Micrognathia, Broad alveolar ridges, Bifid uvula,...	OMIM:270400
Williams Syndrome	Microdontia, Micrognathia, Everted lower lip vermilion, Peripheral pulmonary artery stenosis, Pre...	ORPHA:904
Fraser Syndrome 1	Difficulty in tongue movements, Cleft upper lip, Dental malocclusion, Dental crowding, Pulmonary ...	OMIM:219000
Meier-Gorlin Syndrome 7	Cleft palate, Narrow mouth, High palate, Pulmonary hypoplasia	OMIM:617063
Congenital Alveolar Capillary Dysplasia	Pulmonary arterial hypertension, Respiratory distress	ORPHA:210122
Postinfectious Vasculitis	Palpable purpura, Acrocyanosis, Vasculitis in the skin, Cutis marmorata, Recurrent streptococcus ...	ORPHA:48435
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Flexion contracture, Delayed eruption of teeth, Thick lower lip vermilion,...	ORPHA:261537
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Pulmonary hypoplasia, Abnormal lung morphology	ORPHA:2470
Leptospirosis	Pulmonary hemorrhage, Jaundice, Respiratory distress, Pleural effusion, Cough	ORPHA:509
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation, Pulmonary...	OMIM:619351
Gitelman Syndrome	Salt craving, Chondrocalcinosis, Respiratory distress, Polydipsia	ORPHA:358
Mowat-Wilson Syndrome	Mandibular prognathia, Flexion contracture, Widely spaced teeth, Thick lower lip vermilion, Delay...	ORPHA:2152
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia, Arthrogryposis multiplex congenita	ORPHA:86822
Microphthalmia, Syndromic 1	Cleft upper lip, Tooth malposition, High palate, Joint contracture of the hand, Agenesis of maxil...	OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Flexion contracture, Delayed eruption of teeth, Thick lower lip vermilion,...	ORPHA:261552
Alström Syndrome	Pulmonary arterial hypertension, Gingivitis, Chronic bronchitis, Recurrent sinusitis, Chronic pul...	ORPHA:64
Pmm2-Cdg	Retrognathia, Mandibular prognathia, Aspiration pneumonia, Long philtrum, Wide mouth, High palate...	ORPHA:79318
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
Cardiac Valvular Dysplasia 1	Cyanosis, Inguinal hernia, Pulmonary artery atresia	OMIM:212093
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hernia, Respiratory distress, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Umbilic...	ORPHA:2255
Acrocephalopolydactylous Dysplasia	Extrapulmonary sequestrum, Omphalocele, Pulmonary hypoplasia	OMIM:200995
Aicardi-Goutières Syndrome	Multiple joint contractures, Acrocyanosis, Cutis marmorata, Panniculitis, Lipoatrophy, Prolonged ...	ORPHA:51
Renal-Hepatic-Pancreatic Dysplasia 1	Neonatal death, Pulmonary hypoplasia	OMIM:208540
Johanson-Blizzard Syndrome	Death in childhood, Hypoplasia of the primary teeth, Agenesis of permanent teeth	OMIM:243800
Pagod Syndrome	Death in infancy, Abnormality of the pulmonary artery, Pulmonary hypoplasia, Pulmonary artery hyp...	ORPHA:991
Generalized Arterial Calcification Of Infancy	Pulmonary arterial hypertension, Cyanosis, Respiratory distress	ORPHA:51608
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:615503
Craniofacial Microsomia	Transverse facial cleft, Cleft upper lip, Branchial anomaly, Wide mouth, Micrognathia, Pulmonary ...	OMIM:164210
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis, Pulmonary artery atresia	ORPHA:216694
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Pulmonary hypoplasia	OMIM:271520
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Dpagt1-Cdg	Lipodystrophy, Flexion contracture, Camptodactyly, Pulmonary hypoplasia	ORPHA:86309
Cardiac-Urogenital Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return,...	OMIM:618280
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia	OMIM:236700
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Penile Agenesis	Pulmonary hypoplasia, Bilateral lung agenesis	ORPHA:49

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 Irx1

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 Irx1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Irx1 regulates dental outer enamel epithelial and lung alveolar type II epithelial differentiation.	Developmental biology (July 2017)	Irx1^{tm1(KOMP)Vlcg}	PMC5599132

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MGI Allele	Allele Type	Produced
Irx1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Irx1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Irx1 MGI:1197515

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

Embryo LacZ

X-ray

X-ray

MicroCT E14.5-E15.5

MicroCT E18.5

Gross Morphology Embryo E12.5

Eye Morphology

X-ray

Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Irx1 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data