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
abnormal embryo size Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00
decreased thigmotaxis Irx1tm1.1(KOMP)Vlcg HET Early adult 2.97×10-05
embryonic growth retardation Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal craniofacial morphology Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal abdominal wall morphology Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00
preweaning lethality, complete penetrance Irx1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
hypoactivity Irx1tm1.1(KOMP)Vlcg HET Early adult 6.30×10-05

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 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Gross Morphology Embryo E12.5

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Section

28 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Forepaw

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Auditory Brain Stem Response

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

2 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
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Dysphagia, Asthma, Hypodontia OMIM:616029
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Dyspnea, Resp... ORPHA:1832
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Perching Syndrome
Respiratory distress, Dysphagia, Camptodactyly, Flexion contracture, High palate, Depressed nasal... OMIM:617055
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Atelectasis, Chronic sinusitis OMIM:300455
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Ectodermal dysplasia, Sm... OMIM:129540
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth, Telangiectasia OMIM:614564
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory failure, Recurrent respiratory infections, Respiratory insuffi... OMIM:253300
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palate, Micrognathia... ORPHA:718
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Respiratory insufficiency, Cleft palate, High palate, Microgn... OMIM:615731
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Respiratory distress, Death in infancy, Dentinogenesis imp... ORPHA:166272
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Fragile skin, Carious teeth, Oral mucosal blisters ORPHA:79406
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Hyperoxemia, Abnormal respiratory system morph... ORPHA:70589
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Dysphagia, Respira... OMIM:614399
Naegeli-Franceschetti-Jadassohn Syndrome
Ectodermal dysplasia, Abnormal dental enamel morphology ORPHA:69087
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Prominent nasal bridge, Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Underdevelope... ORPHA:2025
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Atrophic scars, Fragile skin, Oral mucosal blisters ORPHA:79405
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Underdeveloped nasal alae, Everted lower lip vermilion, Thick vermilion bo... OMIM:228560
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Inguinal hernia, Incr... OMIM:618761
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Pierre Robin Syndrome
Pierre-Robin sequence, Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cle... OMIM:261800
Recurrent Respiratory Papillomatosis
Choking episodes, Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent up... ORPHA:60032
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Neuralgic Amyotrophy
Acrocyanosis, Narrow mouth, Respiratory insufficiency, Cleft palate ORPHA:2901
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Atelect... OMIM:615067
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Bifid nose, Malar fl... ORPHA:139474
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp, Neonat... OMIM:226670
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border, Broad nasal tip, Recurrent respiratory ... ORPHA:363523
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Oral ... ORPHA:199306
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Recurrent upper respiratory tract infections, Irregularly space... ORPHA:99329
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia, Stillbirth OMIM:183300
Anti-Glomerular Basement Membrane Disease
Purpura, Cough, Persistence of primary teeth, Respiratory insufficiency, Hemoptysis, Pulmonary in... ORPHA:375
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Prominent nose OMIM:203550
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Mandibular prognathia, Flexion contracture, Gingival overgrowth, Anteverted... OMIM:618006
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Pyle Disease
Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Abs... OMIM:265900
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Bulbous nose, Anteverted nares, Mandibular prognathia, Wide nasal bridge, High... OMIM:600991
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth ORPHA:2026
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Coffin-Siris Syndrome 10
Anteverted nares, Wide mouth, Persistence of primary teeth, Laryngomalacia OMIM:618506
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Pilodental Dysplasia With Refractive Errors
Ectodermal dysplasia, Conical incisor, Wide nasal bridge, Hypodontia OMIM:262020
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Pycnodysostosis
Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste... OMIM:265800
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Atrophic scars, Carious teeth, Death in infancy OMIM:226700
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:618291
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
High palate, Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency OMIM:616326
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Thick lower lip vermilion, Hypoplasia of the primary teeth, U-Shaped upper lip... OMIM:234250
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Broad philtrum, Congenital finger flexion contractures, Dysphagia, Hi... ORPHA:166108
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Cellulitis, Generalized abnormality of skin, Cough, Abnormality of the... ORPHA:2314
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle weakness, Neonatal de... OMIM:611890
Myasthenic Syndrome, Congenital, 8
High palate, Respiratory insufficiency OMIM:615120
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Odontochondrodysplasia 1
Long philtrum, Delayed eruption of teeth, Respiratory distress, Death in infancy, Pulmonary hypop... OMIM:184260
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Oligodontia, Joint contracture of the 5th finger, Widely-spaced incisors, Conical mandibular inci... OMIM:601668
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Malar flattening, Depressed n... OMIM:613849
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Ectodermal dysplasia OMIM:613576
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insuf... OMIM:208081
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Scarring alopecia of scalp, Oral mucosal blisters ORPHA:79402
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Micrognathia, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngomalacia, Laryngeal strido... OMIM:616202
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Micrognathia, Respiratory failure, Respiratory insufficiency OMIM:228940
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Depressed nasal bridge OMIM:612463
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Respiratory failure OMIM:600561
Lichtenstein Syndrome
Enamel hypoplasia, Carious teeth, Downturned corners of mouth, Anteverted nares, Recurrent respir... OMIM:246550
Trichodental Dysplasia
Conical tooth, Odontodysplasia, Hypodontia OMIM:601453
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerated median tongue furrow, Thick l... OMIM:300602
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Tracheomalacia, Tented upper lip vermilion, Atelectasis, N... ORPHA:896
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Recurrent respiratory infections, Downturned corners of mouth ORPHA:2643
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia, Anteverted nares OMIM:166750
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Ectodermal dysplasia, Anodontia OMIM:275450
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Respiratory distress, Death in infancy, Congenital contracture, Thin upper lip vermil... OMIM:615042
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia ORPHA:91133
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Choanal Atresia
Choking episodes, Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngoma... ORPHA:137914
Hyperekplexia 4
Camptodactyly, Flexion contracture, Umbilical hernia, Inguinal hernia, Distal arthrogryposis, Res... OMIM:618011
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Myasthenic Syndrome, Congenital, 19
Respiratory insufficiency, High palate, Retrognathia, Micrognathia, Recurrent lower respiratory t... OMIM:616720
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerated median tongue furrow, Thick l... OMIM:300431
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia, Recurrent respiratory infections OMIM:251190
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Severe X-Linked Mitochondrial Encephalomyopathy
Increased connective tissue, Tongue fasciculations, Respiratory distress, Respiratory insufficiency ORPHA:238329
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Dysphagia, Cough, Respiratory failure requiring assisted ventilation, Respiratory failur... ORPHA:90117
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, Neonatal asphyxia, ... ORPHA:70588
Laryngotracheoesophageal Cleft
Choking episodes, Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respirato... ORPHA:2004
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Micrognathia, Wide mouth, Respiratory distress OMIM:300934
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Dysphagia, High palate, Respiratory insufficiency OMIM:616323
Auriculocondylar Syndrome 2
Apnea, Short mandibular rami, Narrow mouth, Dental crowding, Snoring, Mandibular condyle aplasia,... OMIM:614669
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Atypical scarring of skin, Sc... ORPHA:251393
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Persistence of primary teeth, Recurrent sinopulmonary infections, Erythema, Recurrent pneumonia, ... OMIM:147060
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... OMIM:611369
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Wide nasal bridge, M... OMIM:253250
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi... ORPHA:3019
Lethal Recessive Chondrodysplasia
Macroglossia, Micrognathia, Respiratory distress ORPHA:1423
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Unsteady gait, Torticollis, Anxiety OMIM:128235
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Abnormality of the philtrum, Tooth agenesis, ... ORPHA:2863
Lethal Congenital Contracture Syndrome 11
Retrognathia, Pulmonary hypoplasia OMIM:617194
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Choanal atr... ORPHA:2759
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Agnathia-Otocephaly Complex
Mandibular aplasia, Narrow mouth, Aglossia, Laryngeal hypoplasia, Respiratory distress, Tracheoma... OMIM:202650
Hypoglossia With Situs Inversus
Narrow mouth, Respiratory distress, Hypodontia, Upper airway obstruction, Microglossia, High pala... OMIM:612776
Laron Syndrome
Delayed eruption of teeth, Prematurely aged appearance, Tooth agenesis, Hypoplastic nasal bridge,... ORPHA:633
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea, Dysphagia, Atelectasis, Achilles tendon co... ORPHA:254361
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Shagreen patch, Hypodontia ORPHA:1816
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Dysphagia, Reduced maximal inspiratory pressure, Respirat... ORPHA:266
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Wheezing, Bronch... ORPHA:244
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Prominent... OMIM:302350
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Atelectasis, Recurrent pneu... OMIM:268500
Intermediate Nemaline Myopathy
Long philtrum, Arthrogryposis multiplex congenita, Dysphagia, Flexion contracture, Respiratory fa... ORPHA:171433
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Dysphagia, Pneumonia, Pulmonary cyst... ORPHA:2357
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Underdeveloped nasal alae, Incisor macrodontia, Abnormality of primary teet... ORPHA:438216
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Respiratory failure, High palate, ... OMIM:615330
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Ectodermal dysplasia, Widely spaced teeth, Conical tooth OMIM:613573
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Dental crowding, Ectodermal dysplasia, Wide nasal bridge, Shovel-shaped maxillary cen... OMIM:600906
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Respiratory distress, Wide nasal bridge, Widely spaced teeth, Depressed nasal bridge OMIM:617102
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Nemaline Myopathy 8
Dysphagia, Respiratory failure, Flexion contracture, Death in infancy OMIM:615348
Geniospasm 1
Anxiety OMIM:190100
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Recurrent respiratory infections, Respiratory insufficiency ORPHA:2432
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Cleft palate OMIM:615502
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610967
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia OMIM:190320
Idiopathic Bronchiectasis
Respiratory tract infection, Halitosis, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infec... ORPHA:60033
Immunodeficiency 9
Amelogenesis imperfecta, Ectodermal dysplasia, Stomatitis, Respiratory insufficiency due to muscl... OMIM:612782
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Oligodontia, Dental crowding, Pierre-Robin sequence, Thick vermilion border, H... OMIM:619184
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Thin vermilion border, Bulbous nose, Respiratory distress, Lipoatrophy, Wide nasa... ORPHA:261304
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted lower lip vermilion, Microdontia, Everted upper lip vermilion ORPHA:181
Xfe Progeroid Syndrome
Enamel hypoplasia, Prematurely aged appearance, Absence of subcutaneous fat OMIM:610965
Myopathy, Centronuclear, 5
Narrow mouth, Respiratory insufficiency, Hip contracture, High palate, Retrognathia, Micrognathia OMIM:615959
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Respiratory failure, Respiratory insufficiency OMIM:616081
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Apnea, Ta... ORPHA:10
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the mouth ORPHA:181393
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Micrognathia, Flexion contracture, Respiratory insufficiency due to muscle ... ORPHA:1143
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Long philtrum, Underdeveloped nasal alae, Dental crowding, Wide mouth,... OMIM:618825
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Pursed lips, Long philtrum, Camptodactyly, Congenital contracture, Umbilical hernia, Wide nasal b... OMIM:616266
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Respiratory distress, Snoring, Man... ORPHA:137888
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short mandibular rami, Bulbous nose, Prominent frontal sinuses, A... OMIM:170390
Chitayat Syndrome
Respiratory distress, Thick vermilion border, Tracheomalacia, Abnormal pulmonary interstitial mor... OMIM:617180
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, Short philtrum, Dyspnea, Respiratory distress, Wide mouth, Smooth philtrum... ORPHA:2707
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Hypoventilation, Open mouth, Increased connective tissue, Dysphagia, Abnormality of... ORPHA:258
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Respiratory distress, Ventilator dependence with inability to wean, Respiratory fai... ORPHA:254864
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Cough, Flexion contracture, Abnormal pattern of respiration, Rec... ORPHA:77260
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, High palate, ... ORPHA:98913
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Flexion contracture, Respiratory failure, Respiratory insufficiency OMIM:613869
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Generalized abnormality of skin, Atrophic scars, Fragile skin, Oral mucosal blisters ORPHA:79411
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Dysphagia, Respi... OMIM:254210
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Abnormality of the tongue muscle, Multiple joint contractures, Respira... ORPHA:370968
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp, Facial erythema OMIM:612843
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Recurrent bronchitis, Short philtrum, Drooling, Underdeveloped nasal alae, Fle... OMIM:619293
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Agenesis of maxillary incisor, Atelectasis, Bif... ORPHA:1401
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormal palate morphology, Abnormality of the dentition, Prominent nasal bridge, ... ORPHA:3270
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Delayed eruption of permanent teeth, Asthma, Dentinogenesis imperfecta, Retrognath... OMIM:619269
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Dyspnea, Depressed nasal bridge ORPHA:94089
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Short philtrum, Camptodactyly of finger, Mandibular prognathia, Wide m... ORPHA:137834
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Congenital Muscular Dystrophy, Ullrich Type
Abnormal palate morphology, Flexion contracture, Respiratory failure, Knee flexion contracture, M... ORPHA:75840
Huntington Disease-Like 2
Dystonia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Tooth agenesis, Inguinal hernia, Aplasia/Hypoplasia of... ORPHA:2063
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Hypodontia, Solitary median maxillary central incisor, Abnormal ora... ORPHA:952
Coffin-Siris Syndrome 3
Macroglossia, Wide mouth, Wide nose, Anteverted nares, Delayed eruption of permanent teeth, Depre... OMIM:614608
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Oculocerebrodental Syndrome
Enamel hypoplasia, Oligodontia, Abnormality of the dentition, Wide nasal bridge, Microdontia, Ret... ORPHA:557003
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Oral mucosal blisters, Hypodontia OMIM:226650
Spinocerebellar Ataxia, Autosomal Recessive 20
Long philtrum, Macroglossia, Delayed eruption of teeth, Dental crowding, Camptodactyly, Thick ver... OMIM:616354
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Microretrognathia, Pierre-Robin sequence, Tooth agenesis,... OMIM:618363
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Short nose, Abnormality of canine, Abno... ORPHA:363417
Ectodermal Dysplasia With Adrenal Cyst
Ectodermal dysplasia, Delayed eruption of teeth OMIM:129550
Paroxysmal Non-Kinesigenic Dyskinesia
Dyspnea, Trismus ORPHA:98810
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Pulmonary hypoplasia, Cleft palate, Retrognathia,... ORPHA:2631
Oromandibular Dystonia
Respiratory distress, Dysphagia, Abnormality of the temporomandibular joint, Impaired mastication... ORPHA:93958
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Oligodontia, Scarring alopecia of scalp, Persistence of primary teeth, Wide na... OMIM:618727
Congenital Myasthenic Syndrome
Respiratory arrest, Choking episodes, Arthrogryposis multiplex congenita, Episodic respiratory di... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Choking episodes, Arthrogryposis multiplex congenita, Episodic respiratory di... ORPHA:98914
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Knee flexion contracture, Hip ... OMIM:313420
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Dysphagia, Respiratory insuff... ORPHA:254875
Mitochondrial Pyruvate Carrier Deficiency
Thin upper lip vermilion, Long philtrum, Respiratory distress OMIM:614741
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Craniometaphyseal Dysplasia, Autosomal Recessive
Abnormal nasopharynx morphology, Mandibular prognathia, Wide nasal bridge, Broad alveolar ridges,... OMIM:218400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Cutaneous photosensitivity, Ma... ORPHA:2180
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Respiratory distress, Deep philtrum, Contractures of the large joints, Thin upper lip... ORPHA:329178
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Retrognathia, Increased overbite, High palate, Dental malocclusion,... OMIM:613684
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Deep philtrum, Diastema, Cleft palate, Microdontia OMIM:605282
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ... ORPHA:90322
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Short philtrum, Flexion contracture, Death in infancy, Wide mouth, Respi... ORPHA:1194
Fetal Akinesia Deformation Sequence 2
Flexion contracture, Tented upper lip vermilion, Wide nasal bridge, Respiratory insufficiency, Cl... OMIM:618388
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Natal tooth, Fragile skin, Respiratory failure, Cleft palate ORPHA:158687
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth ORPHA:1811
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea, Macrodontia of permanent maxillary central incisor, Neuromuscular dysphagi... ORPHA:466722
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Short nose, Downturned corners of mouth, Short nas... ORPHA:2409
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Respiratory insufficiency, Pulmonary hypoplasia, Cleft palate, Micr... OMIM:256050
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Dentinogenesis imperfecta, Micrognathia OMIM:259420
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Arthrogryposis multiplex congenita, Dental crowding, Camptodactyly, Flexion contracture, Pulmonar... OMIM:617468
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Enamel hypoplasia, Arthrogryposis multiplex congenita, Atrophic scars, Death in infancy, Fragile ... OMIM:226730
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Camptodactyly of finger, Narrow mouth, Downturned corners of mouth, Short nose, Mandib... ORPHA:1327
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Dyspnea, Pulmonary fibrosis, Dysphagia, Flexion contracture, Telangiectasia of the... ORPHA:220393
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Hypodontia, Joint cont... OMIM:612350
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Arthrogryposis multiplex congenita, Dysphagia, Flexion contracture, Respiratory failure, H... OMIM:617301
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Dysphagia, Respiratory insufficiency, Tongue fasciculations, Strid... OMIM:211530
Microphthalmia, Syndromic 12
Wide nasal bridge, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Broad nasal tip, Retrog... OMIM:615524
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Wide nasal bridge, Neonatal death, Pulmonary hypoplasia, Micrognathia, Malar flatte... OMIM:224410
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Respiratory distress, Omphalocele, Pulmonary hypoplasia, Respiratory failure, Depr... OMIM:617895
Auriculocondylar Syndrome 1
Apnea, Narrow mouth, Dental crowding, Snoring, Mandibular condyle aplasia, Cleft palate, Anterior... OMIM:602483
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Depressed nasal bridge OMIM:612462
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Thick ... ORPHA:2107
Pachyonychia Congenita
Oral leukoplakia, Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth ORPHA:2309
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Short nose, Mandibular progn... OMIM:259775
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Downturned corners of mouth, Pleural effusion, Retrognathia, Respi... ORPHA:3015
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Acute infectious pneumonia, Respiratory failure requiring a... ORPHA:140896
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Dysphagia, Respiratory insufficiency, Cleft palate, High pala... OMIM:201550
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Oral ulcer, Pleural effusion, C... ORPHA:3392
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Respiratory failure OMIM:618637
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long philtrum, Carious teeth, Restrictive ventilatory defect, Short nose, Respiratory distress, A... ORPHA:536467
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Brittle Cornea Syndrome 1
Palmoplantar cutis laxa, Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermilion, Abnormality of the d... ORPHA:1515
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Hypoplasia of the maxilla, Lipoatrophy, Microgn... OMIM:601812
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency, Respiratory i... OMIM:301830
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Microretrognathia, Dysphagia, Wide nasal bridge, Wide nose ORPHA:89844
Osteoglosphonic Dysplasia
Choanal atresia, Tooth agenesis, Inguinal hernia, Micrognathia, Anteverted nares, Multiple unerup... ORPHA:2645
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysphagia, Delayed eruption of teeth, Oligodontia, Hypodontia OMIM:614381
Orofaciodigital Syndrome Type 2
Hypoplasia of teeth, Tongue nodules, Natal tooth, Hamartoma of tongue, High palate, Micrognathia,... ORPHA:2751
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Micrognathia, Respiratory failure OMIM:607598
Teebi Hypertelorism Syndrome
Long philtrum, Short nose, Dental crowding, Natal tooth, Omphalocele, Wide nasal bridge, Depresse... OMIM:145420
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border OMIM:601957
Cohen Syndrome
Short philtrum, Open mouth, Macrodontia of permanent maxillary central incisor, Laryngomalacia, H... OMIM:216550
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Death in infancy OMIM:272300
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Abnormality of dental m... ORPHA:1458
Geleophysic Dysplasia 3
Long philtrum, Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Thick vermilio... OMIM:617809
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:605809
4H Leukodystrophy
Delayed eruption of teeth, Drooling, Dysphagia, Abnormality of the dentition, Hypodontia ORPHA:289494
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Natal tooth, Hamartoma of tongue, Omphalocele, Respiratory insuffici... OMIM:269860
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Non-... ORPHA:2919
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Snakebite Envenomation
Pseudobulbar paralysis, Epistaxis, Respiratory paralysis, Erythema, Neuromuscular dysphagia, Ging... ORPHA:449285
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Achilles tendon contracture OMIM:604801
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Short nose, Respiratory distress, Deep philtrum, Tented upper lip vermili... ORPHA:314655
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Ectodermal dysplasia, Oligodontia, Natal tooth, Hypodontia OMIM:601345
Genitopatellar Syndrome
Long philtrum, Delayed eruption of teeth, Arthrogryposis multiplex congenita, Apnea, Pulmonary hy... ORPHA:85201
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Tooth malposition, Narrow nasal bridge OMIM:268320
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Taurodontism
Taurodontia OMIM:272700
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Camptodactyly, Smooth philtrum, Knee flexion contracture, High, narrow pala... OMIM:608799
Ohdo Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Short nose, Smooth philt... OMIM:249620
Hereditary Angioedema Type 1
Dyspnea, Abnormal soft palate morphology, Abnormal respiratory system morphology, Respiratory dis... ORPHA:100050
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Everted lower lip vermilion, A... ORPHA:915
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Depressed nasal bridge OMIM:103580
Crisponi Syndrome
Long philtrum, Camptodactyly of finger, Narrow mouth, Flexion contracture, Death in infancy, Resp... ORPHA:1545
Sandestig-Stefanova Syndrome
Camptodactyly, Wide nasal bridge, Oral cleft, Respiratory failure, High palate, Retrognathia OMIM:618804
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Micrognathia, Pulmonary hypoplasia, Hypoplasia of the maxilla OMIM:601809
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Camptodactyly of finger, Stridor, Persistence of primary teeth, Wide n... OMIM:305620
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Temple-Baraitser Syndrome
Long philtrum, Delayed eruption of teeth, Open mouth, Anteverted nares, Everted lower lip vermili... ORPHA:420561
Immunodeficiency 49
Short philtrum, Natal tooth, Umbilical hern