Gene Summary

Name:
Iroquois homeobox 1
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Irx1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased thigmotaxis Irx1tm1.1(KOMP)Vlcg HET Early adult 3.07×10-05
abnormal embryo size Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00
decreased locomotor activity Irx1tm1.1(KOMP)Vlcg HET Early adult 2.32×10-05
abnormal abdominal wall morphology Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal craniofacial morphology Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00
embryonic growth retardation Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00

Download data as:  TSV  XLS

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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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

2 Images

Adult LacZ

LacZ Images Section

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

9 Images

Gross Morphology Embryo E12.5

Images

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Auditory Brain Stem Response

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

7 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Micrognathia, Dyspnea, Microglossia, Upper airway obstruction,... ORPHA:141152
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Dentinogenesis Imperfecta
Bruising susceptibility, Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root m... ORPHA:49042
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis, Atelectasi... OMIM:615294
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Ectodermal Dysplasia/Short Stature Syndrome
Asthma, Hypodontia, Dysphagia, Enamel hypoplasia OMIM:616029
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Recurrent respiratory infections, Tongue fasciculations,... OMIM:253300
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Nemaline Myopathy 9
High palate, Micrognathia, Arthrogryposis multiplex congenita, Respiratory insufficiency, Cleft p... OMIM:615731
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Telangiectasia, Carious teeth, Enamel hypoplasia OMIM:614564
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Lethal Osteosclerotic Bone Dysplasia
Gingival fibromatosis, Respiratory failure, Micrognathia, Dyspnea, Mandibular aplasia, Median cle... ORPHA:1832
Late-Onset Junctional Epidermolysis Bullosa
Fragile skin, Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Wheezing... ORPHA:2302
Perching Syndrome
High palate, Flexion contracture, Dysphagia, Respiratory distress, Camptodactyly OMIM:617055
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Enamel hypoplasia, Carious teeth, Fragile skin, Atrophic scars ORPHA:79405
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth ORPHA:2222
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Upper airway obstruction, Glossoptosis, Neonatal respiratory... OMIM:261800
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Fryns Macrocephaly
Short upper lip, Short philtrum, Everted lower lip vermilion, Knee flexion contracture, Thin uppe... OMIM:600302
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Ectodermal... OMIM:129540
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Odontochondrodysplasia
Delayed eruption of teeth, Respiratory distress, Retrognathia, Death in infancy, Dentinogenesis i... ORPHA:166272
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth, Neonatal respiratory distress, Incr... OMIM:226670
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Choking e... ORPHA:60032
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Bronchiectasis, Atelecta... ORPHA:922
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Neuralgic Amyotrophy
Narrow mouth, Acrocyanosis, Cleft palate, Respiratory insufficiency ORPHA:2901
Isolated Pierre Robin Syndrome
Micrognathia, Upper airway obstruction, Glossoptosis, Neonatal respiratory distress, Cleft palate ORPHA:718
Catifa Syndrome
Delayed eruption of teeth, Long philtrum, Asthma, Cleft lip, Inguinal hernia, Increased overbite,... OMIM:618761
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Cutis marmorata, Sleep apnea, Widely-spaced maxillary central inciso... OMIM:619719
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
48,Xyyy Syndrome
High palate, Recurrent upper respiratory tract infections, Long philtrum, Enamel hypoplasia, Asth... ORPHA:99329
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Pulmonary infiltrates, ... ORPHA:79126
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Respiratory failure, Micrognathia, Respiratory insufficiency due to muscle w... OMIM:618291
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2026
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Gingival fibromatosis, Everted lower lip vermilion, Exagg... ORPHA:2025
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Thick vermilion border, Carious teeth, Enamel hypoplasia ORPHA:363523
Fibromatosis, Gingival, With Distinctive Facies
High palate, Gingival fibromatosis, Everted lower lip vermilion, Delayed eruption of permanent te... OMIM:228560
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Hypodontia-Dysplasia Of Nails Syndrome
Agenesis of permanent teeth, Delayed eruption of teeth, Conical tooth, Hypodontia, Everted lower ... ORPHA:2228
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Epidermolysis Bullosa, Junctional 1B, Severe
Death in infancy, Carious teeth, Atrophic scars, Enamel hypoplasia OMIM:226700
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
High palate, Flexion contracture, Respiratory insufficiency, Arthrogryposis multiplex congenita OMIM:616326
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Camptodactyly of finger, Respiratory failure, Tongue... OMIM:614399
Myasthenic Syndrome, Congenital, 8
High palate, Respiratory insufficiency OMIM:615120
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Cough, Respiratory insufficiency, Persistence of primary teeth, Purpura ORPHA:375
17Q11.2 Microduplication Syndrome
Thin vermilion border, Malar flattening, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:139474
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Respiratory failure, Micrognathia, Respiratory insufficiency due to muscle weakness,... OMIM:611890
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Leukodystrophy, Hypomyelinating, 17
Flexion contracture, Widely spaced teeth, Respiratory distress, Mandibular prognathia, Gingival o... OMIM:618006
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Joi... OMIM:601668
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Autosomal Dominant Hyper-Ige Syndrome
Cellulitis, Delayed eruption of teeth, Cough, Atelectasis, Recurrent respiratory infections, Ging... ORPHA:2314
Odontochondrodysplasia 1
Delayed eruption of teeth, Long philtrum, Recurrent respiratory infections, Respiratory distress,... OMIM:184260
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita OMIM:217150
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory insufficiency, Respiratory failure, Micrognathia OMIM:228940
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Ectodermal dysplasia, Enamel hypoplasia OMIM:613576
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex c... OMIM:208081
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia ORPHA:79402
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia OMIM:300580
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive v... OMIM:610978
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Tongue fasciculations OMIM:600561
Pycnodysostosis
Persistence of primary teeth, Hypodontia, Carious teeth, Micrognathia, Delayed eruption of primar... OMIM:265800
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Myotubular Myopathy With Abnormal Genital Development
High palate, Atelectasis, Respiratory distress, Retrognathia, Neonatal death, Death in infancy OMIM:300219
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atel... ORPHA:70587
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Maxillary late... ORPHA:1193
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Parenchymal co... ORPHA:2902
Pilodental Dysplasia With Refractive Errors
Conical incisor, Ectodermal dysplasia, Hypodontia OMIM:262020
Trichoodontoonychial Dysplasia With Bone Deficiency
Anodontia, Ectodermal dysplasia, Enamel hypoplasia OMIM:275450
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal resp... ORPHA:2257
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea... OMIM:263000
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough, Dyspnea ORPHA:60026
Intellectual Disability, Birk-Barel Type
Short philtrum, Contractures involving the joints of the feet, Open mouth, Tented upper lip vermi... ORPHA:166108
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Hyperekplexia 4
High palate, Distal arthrogryposis, Flexion contracture, Respiratory failure, Inguinal hernia, Um... OMIM:618011
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Lichtenstein Syndrome
Recurrent respiratory infections, Carious teeth, Downturned corners of mouth, Enamel hypoplasia OMIM:246550
Auriculocondylar Syndrome 2
Narrow mouth, Apnea, Snoring, Micrognathia, Dental crowding, Glossoptosis, Mandibular condyle hyp... OMIM:614669
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Tongue fasciculations, Respiratory distress, Increased connective tissue ORPHA:238329
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronchiectasis, Ciliary dyski... OMIM:616726
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Ground-glass opacification, Intraa... OMIM:265120
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Myasthenic Syndrome, Congenital, 19
High palate, Micrognathia, Retrognathia, Recurrent lower respiratory tract infections, Respirator... OMIM:616720
Liang-Wang Syndrome
Everted lower lip vermilion, Macroglossia, Macrodontia of permanent maxillary central incisor, Th... OMIM:618729
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Dysphagi... ORPHA:90117
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Widely spaced teeth, Micrognathia, Wide mouth OMIM:300934
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
High palate, Dysphagia, Respiratory insufficiency OMIM:616323
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, U-Shaped upper lip vermilion, Thick lower lip vermilion, Microdontia of primar... OMIM:234250
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Micrognathia, Enamel hypoplasia OMIM:251190
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Enamel hypoplasia, Scarring alopecia of scalp, Lim... ORPHA:251393
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency, Multiple joint contractures, Arthrogryposis multiplex ... OMIM:611369
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Congenital Disorder Of Glycosylation, Type Iu
High palate, Micrognathia, Respiratory distress, Neonatal respiratory distress, Thin upper lip ve... OMIM:615042
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta OMIM:245660
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Malar flattening, Mandibular prognathia, Enamel hypoplasia OMIM:600991
Osteogenesis Imperfecta, Type Xii
Narrow mouth, High palate, Delayed eruption of teeth, Micrognathia, Malar flattening OMIM:613849
Coffin-Siris Syndrome 10
Persistence of primary teeth, Wide mouth OMIM:618506
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Choanal Atresia
Cyanosis, Choking episodes, Tracheomalacia, Abnormal nasal mucus secretion, Recurrent respiratory... ORPHA:137914
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Telangiectasia of the skin, Abnormal dental ena... ORPHA:3019
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Waardenburg Syndrome Type 3
Tracheomalacia, Camptodactyly of finger, Tented upper lip vermilion, Atelectasis, Acrocyanosis ORPHA:896
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Lethal Recessive Chondrodysplasia
Respiratory distress, Micrognathia, Macroglossia ORPHA:1423
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:608647
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Dysphagia, R... ORPHA:266
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia, Retrognathia OMIM:617194
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:254361
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300602
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent pneumonia, Erythema, Recurrent sinopulmonary infections, Persistence of pr... OMIM:147060
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Shagreen patch, Delayed eruption of teeth ORPHA:1816
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Long philtrum, Cleft palate, Thin vermilion border, Incisor macrodontia OMIM:615502
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Respiratory failure, Retrognathia, Arthrogryposis multiplex congenita, Respiratory i... OMIM:615330
Laryngotracheoesophageal Cleft
Cyanosis, Impaired oropharyngeal swallow response, Choking episodes, Aspiration, Cough, Dyspnea, ... ORPHA:2004
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Chronic sinusitis, Respiratory failure, Respiratory tract i... ORPHA:244
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Hypodontia, Micrognathia, Microglossia, Upper airway obstruction, Resp... OMIM:612776
Intermediate Nemaline Myopathy
Flexion contracture, Long philtrum, Respiratory failure, High, narrow palate, Dysphagia, Arthrogr... ORPHA:171433
Ectodermal Dysplasia-Syndactyly Syndrome 1
Ectodermal dysplasia, Widely spaced teeth, Enamel hypoplasia, Conical tooth OMIM:613573
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Reduced subcutaneous adipose tissue, Atelec... OMIM:268500
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture, Dysphagia OMIM:615348
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Swollen lip, Upper airway obstruction, Respiratory distress, Tongue edema ORPHA:100057
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Median cleft palate, Respiratory insufficiency ORPHA:2432
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300431
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxe... ORPHA:1302
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia OMIM:190320
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Hypodontia, Microglossia, Absent frontal sinuses,... OMIM:253250
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Parenchymal consolidatio... ORPHA:723
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Ectodermal dysplasia, Respiratory insuffi... OMIM:612782
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Recurrent pneumonia, Pulmonary pneumatocele, Recurrent upper respiratory tract infec... OMIM:619752
X-Linked Hypohidrotic Ectodermal Dysplasia
Microdontia, Everted lower lip vermilion, Delayed eruption of teeth, Everted upper lip vermilion ORPHA:181
Myopathy, Centronuclear, 5
Narrow mouth, High palate, Micrognathia, Hip contracture, Retrognathia, Respiratory insufficiency OMIM:615959
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Neurogenic Arthrogryposis Multiplex Congenita
Flexion contracture, Ankle flexion contracture, Micrognathia, Knee flexion contracture, Respirato... ORPHA:1143
48,Xxyy Syndrome
Delayed eruption of teeth, Open bite, Asthma, Carious teeth, Thick lower lip vermilion, Inguinal ... ORPHA:10
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Flexion contracture OMIM:616081
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Respiratory failure, Dyspnea, Recu... ORPHA:2759
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Halitosis, R... ORPHA:60033
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Abnormality of the mouth, Delayed eruption of teeth ORPHA:181393
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Delayed eruption of teeth, Abnormality of the philtrum, Micro... ORPHA:2863
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Snoring, Micrognathia, Hamartoma of tongue, Abnormality of the temporo... ORPHA:137888
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Respiratory failure requiring assisted ventilation, Macroglossia, Respiratory distre... ORPHA:254864
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Generalized abnormality of skin, Fragile skin, Atrophic scars ORPHA:79411
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Flexion contracture, Aspiration, Open mouth, Respiratory failure, Impaired mastication, Respirato... ORPHA:258
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Oculocerebrofacial Syndrome, Kaufman Type
Short philtrum, Abnormal lip morphology, Microdontia, Respiratory failure, Micrognathia, High, na... ORPHA:2707
Gaucher Disease Type 2
Flexion contracture, Abnormal pattern of respiration, Cough, Recurrent respiratory infections, Dy... ORPHA:77260
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Restrictive ventilatory defect, Respiratory failure, Exertional dyspnea, O... ORPHA:98913
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Respiratory failure, Respiratory i... ORPHA:370968
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Muscular Dystrophy, Ullrich Type
Abnormal palate morphology, Flexion contracture, Respiratory failure, Micrognathia, Knee flexion ... ORPHA:75840
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Dysphagia, Respiratory d... OMIM:254210
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Flexion contracture, Respiratory insufficiency OMIM:613869
X-Linked Centronuclear Myopathy
High palate, Respiratory failure requiring assisted ventilation, Pneumonia, Recurrent respiratory... ORPHA:596
Chronic Pneumonitis Of Infancy
Cyanosis, Ground-glass opacification, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough,... ORPHA:91359
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Carious teeth, Facial erythema, Enamel hypoplasia OMIM:612843
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Hypodontia, Carious teeth, Oral mucosal blisters OMIM:226650
Acrofacial Dysostosis, Weyers Type
Solitary median maxillary central incisor, Conical tooth, Hypodontia, Abnormal oral frenulum morp... ORPHA:952
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Pierre-Robin sequence, Amelogenesis imperfecta, High palate, Carious teeth, Micrognathia, Inguina... OMIM:618363
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Myasthenic Syndrome
Cyanosis, High palate, Choking episodes, Respiratory arrest, Central sleep apnea, Episodic respir... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Choking episodes, Respiratory arrest, Central sleep apnea, Episodic respir... ORPHA:98914
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Shovel-shaped maxillary central incisors, Dental crowding, Ectodermal dysplasia OMIM:600906
Paroxysmal Non-Kinesigenic Dyskinesia
Trismus, Dyspnea ORPHA:98810
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Micrognathia, Knee flexion contracture, Unilateral wrist flexion contracture, Arthrogryposis mult... OMIM:616531
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal patte... ORPHA:724
Ectodermal Dysplasia With Adrenal Cyst
Ectodermal dysplasia, Delayed eruption of teeth OMIM:129550
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary infiltrates, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Parench... ORPHA:36238
Oromandibular Dystonia
Impaired mastication, Abnormal mandible morphology, Abnormality of the temporomandibular joint, D... ORPHA:93958
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Widely spaced teeth, Respiratory distress OMIM:617102
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Pneumonia, Hypoxemia, Airway obstruction, Reduce... ORPHA:1303
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Sleep apnea, De... OMIM:619769
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Dysph... ORPHA:254875
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Delayed eruption of teeth, Macroglossia OMIM:614450
Mitochondrial Pyruvate Carrier Deficiency
Thin upper lip vermilion, Long philtrum, Respiratory distress OMIM:614741
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Laron Syndrome
Delayed eruption of teeth, Prematurely aged appearance, Microdontia, Micrognathia, Tooth agenesis ORPHA:633
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition ORPHA:1811
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long philtrum, Delayed eruption of teeth, Micrognathia, Hypoplasia of teeth, Hypopl... OMIM:257850
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal palate morphology, Aplasia/Hypoplasia of the lungs, Tooth agenesis, Micrognathia, Congen... ORPHA:2063
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Recurrent pneumonia, Flexion contracture, Drooling, Enamel hypoplasia, Microdonti... OMIM:619293
Temtamy Preaxial Brachydactyly Syndrome
Microdontia, Deep philtrum, Talon cusp, Diastema, Cleft palate OMIM:605282
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Short philtrum, Flexion contracture, Respiratory failure, Retrognathia, Camptodactyly of finger, ... ORPHA:1194
Cockayne Syndrome Type 2
Flexion contracture, Widely spaced primary teeth, Enamel hypoplasia, Progeroid facial appearance,... ORPHA:90322
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Abnormality of primary teeth, Tented upper lip vermilion, Respiratory distress, Thin... ORPHA:438216
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Dentinogenesis imperfecta, Micrognathia OMIM:259420
Acute Lung Injury
Pulmonary infiltrates, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory ... ORPHA:178320
Autosomal Recessive Spastic Paraplegia Type 77
Impaired mastication, Sudden episodic apnea, Neuromuscular dysphagia, Retrognathia, Macrodontia o... ORPHA:466722
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Retrognathia, Abnormal lung lobation, Camptodactyly of finger, Thin vermilion border, Cleft palat... ORPHA:2631
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Long philtrum, Elbow flexion contracture, Micrognathia, Knee flexion contracture, Inguinal hernia... OMIM:616266
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Bronchiectasis, Recurrent bronchitis, Absent frontal... OMIM:244400
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections, Tongue fasc... OMIM:211530
Specific Granule Deficiency 2
Amelogenesis imperfecta, Recurrent pneumonia, Conical tooth, Death in childhood, Death in infancy... OMIM:617475
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Diastema, Screwdriver-shaped incisors OMIM:302350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Enamel hypoplasia, Misalignment of incisors, Oligodontia, Hypodontia, Oral... OMIM:619184
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Contractures of the large joints, Deep philtrum, Micrognathia, Recurrent respiratory... ORPHA:329178
Auriculocondylar Syndrome 1
Narrow mouth, Apnea, Impaired mastication, Micrognathia, Snoring, Dental crowding, Anterior open-... OMIM:602483
Chand Syndrome
Agenesis of permanent teeth, Atelectasis, Commissural lip pit, Agenesis of maxillary incisor, Abn... ORPHA:1401
Pseudohypoparathyroidism Type 1B
Dyspnea, Delayed eruption of teeth, Enamel hypoplasia ORPHA:94089
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Cutaneous photosensitivity OMIM:616390
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Arthrogryposis multiplex congenita, Fragile skin, Death in infancy, Atrophic s... OMIM:226730
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla... OMIM:601216
Lethal Acantholytic Erosive Disorder
Respiratory failure, Natal tooth, Camptodactyly of toe, Fragile skin, Cleft palate ORPHA:158687
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Asthma, Periodontitis, Delayed eruption of permanent teeth, Premature loss of teeth, Retrognathia... OMIM:619269
Diffuse Cutaneous Systemic Sclerosis
Pulmonary infiltrates, Flexion contracture, Carious teeth, Dyspnea, Telangiectasia of the skin, P... ORPHA:220393
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Lipoatrophy, Micrognathia, Respiratory distress, Thin vermilion border ORPHA:261304
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Neonatal death, Hamartoma of tongue, Natal tooth, Atelectasis, Inguinal hernia,... OMIM:269860
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Dysphagia, Arthrogryposis multipl... OMIM:201550
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
4H Leukodystrophy
Drooling, Delayed eruption of teeth, Hypodontia, Dysphagia, Abnormality of the dentition ORPHA:289494
Pycnodysostosis
High palate, Enamel hypoplasia, Hypodontia, Carious teeth, Micrognathia, Hypoplasia of the maxill... ORPHA:763
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Pachyonychia Congenita
Oral leukoplakia, Angular cheilitis, Natal tooth, Respiratory distress, Advanced eruption of teeth ORPHA:2309
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress OMIM:615993
Brittle Cornea Syndrome 1
Palmoplantar cutis laxa, Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Dysphagia OMIM:618637
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Long philtrum, Delayed eruption of teeth, Dental crowding, Wide mouth OMIM:618825
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Distal arthrogryposis, Flexion contracture, Elbow flexion contracture, Ankle flexion... OMIM:617468
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Atelosteogenesis, Type Ii
Micrognathia, Malar flattening, Respiratory insufficiency, Death in infancy, Cleft palate, Pulmon... OMIM:256050
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Micrognathia, Arthrogryposis multiplex congenita OMIM:607598
Chitayat Syndrome
Tracheomalacia, Recurrent respiratory infections, Respiratory distress, Abnormal pulmonary inters... OMIM:617180
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Oligodontia, Hypodontia, Microdontia, Micrognathia, Abnor... ORPHA:363417
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Micrognathia, Inguinal hernia, Respiratory insu... OMIM:301830
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Dental malocclusion, Mandibular prognathia, Thick vermilion border OMIM:601957
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Tracheomalacia, Micrognathia, Mandibular aplasia, Microglossia, Respirato... OMIM:202650
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Delayed eruption of teeth, Macroglossia, Dental crowding, Broad philt... OMIM:616354
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Respiratory failure, Dysphagia, Arthrogryposis multiplex congenita, Neonatal... OMIM:616867
Sulfite Oxidase Deficiency, Isolated
Death in infancy, Delayed eruption of teeth OMIM:272300
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Dysphagia, Respiratory d... OMIM:605809
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Frank-Ter Haar Syndrome
Short philtrum, Delayed eruption of teeth, Inguinal hernia, Wide mouth, Premature loss of teeth, ... ORPHA:137834
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Snakebite Envenomation
Ecchymosis, Angioedema, Gingival bleeding, Erythema, Respiratory failure, Respiratory paralysis, ... ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Respiratory failure, Omphalocele, Respiratory distress, Pulmonary hypoplasia OMIM:617895
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Enamel hypoplasia, Oligodontia, Scarring alopecia of scalp, Microdontia, Malar fla... OMIM:618727
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Enamel hypoplasia, Oligodontia, Antegonial notching of ma... OMIM:170390
Naegeli-Franceschetti-Jadassohn Syndrome
Enamel hypoplasia, Carious teeth, Supernumerary tooth, Yellow-brown discoloration of the teeth, A... ORPHA:69087
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Pleural effusion, Micrognathia, High, narrow palate, Dyspnea, R... ORPHA:3015
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Taurodontism
Taurodontia OMIM:272700
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Enamel hypoplasia, Hypodontia, Mandibular prognathia, Dens in dente, Macrodontia OMIM:263540
Osteogenesis Imperfecta, Type X
Micrognathia, Inguinal hernia, Chronic lung disease, Malar flattening, Dentinogenesis imperfecta OMIM:613848
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmon... ORPHA:199241
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Restrictive ventilatory defect, Ground-glass opacification, Diffuse alveol... ORPHA:99931
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Respiratory failure OMIM:604801
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Tularemia
Pulmonary infiltrates, Pneumonia, Pleural effusion, Cough, Oral ulcer, Respiratory distress, Abno... ORPHA:3392
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Bruising susceptibility, Restrictive ventilatory defect, Long philtrum, Tracheomalac... ORPHA:536467
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Hypodontia, Ectodermal dysplasia OMIM:601345
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Oculocerebrodental Syndrome
Enamel hypoplasia, Oligodontia, Microdontia, Retrognathia, Abnormality of the dentition ORPHA:557003
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Raine Syndrome
Narrow mouth, High palate, Gingival overgrowth, Enamel hypoplasia, Microdontia, Micrognathia, Nat... OMIM:259775
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Hypodontia, Scarring alopecia of scalp, Jaundice, Abnormal dental enamel morphology ORPHA:59303
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Open mouth, Microdontia, Micrognathia, Delayed eruption of permanent teeth OMIM:619356
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:615451
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Ankle flexion contracture, Knee flexion contracture, Tongue fasciculations, Hip cont... ORPHA:1145
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Micrognathia, Malar flattening, Neonatal death, Pulmonary hypoplasia OMIM:224410
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure, Widely spaced teeth OMIM:135100
Immunodeficiency 49
Short philtrum, Micrognathia, Natal tooth, Pulmonary artery stenosis, Umbilical hernia OMIM:617237
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Omphalocele, Recurrent respir... ORPHA:2484
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip verm... ORPHA:884
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Bruising susceptibility, Hypodontia, Everted lower lip vermilion, Gingival bleeding, Micrognathia... OMIM:225410
Lowry-Maclean Syndrome
Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Delayed eruption of primary teeth, ... ORPHA:2409
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Oligodontia, Hypodontia, Jaundice, Enamel hypoplasia OMIM:607626
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Flexion contracture, Corneal scarring, Enamel hypoplasia, Dysphagia, Fragile skin, ... OMIM:226600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Bruising susceptibility, Bifid uvula, Delayed eruption of teeth, Prominent superfici... OMIM:612350
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615504
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Sjögren-Larsson Syndrome
Erythema, Abnormal dental enamel morphology, Urticaria ORPHA:816
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Glycine Encephalopathy With Normal Serum Glycine
Flexion contracture, Respiratory failure, Dysphagia, Retrognathia, Arthrogryposis multiplex conge... OMIM:617301
Synaptic Congenital Myasthenic Syndromes
High palate, Neonatal respiratory distress, Sleep apnea, Impaired mastication, Respiratory insuff... ORPHA:98915
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Myopathy, Centronuclear, X-Linked
High palate, Respiratory failure requiring assisted ventilation, Flexion contracture, Respiratory... OMIM:310400
Solar Urticaria
Abnormal tongue morphology, Angioedema, Dermatographic urticaria, Urticaria, Dyspnea, Wheezing, A... ORPHA:97230
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Aplasia/Hypoplasia of the lungs, Micrognathia, Respiratory insufficiency, Thin verm... ORPHA:1046
Coffin-Siris Syndrome 3