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
increased circulating potassium level Irx1tm1.1(KOMP)Vlcg HET   Early adult 2.92×10-05
abnormal embryo size Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00
decreased thigmotaxis Irx1tm1.1(KOMP)Vlcg HET Early adult 3.07×10-05
abnormal abdominal wall morphology Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00
decreased locomotor activity Irx1tm1.1(KOMP)Vlcg HET Early adult 2.37×10-05
embryonic growth retardation Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00
preweaning lethality, complete penetrance Irx1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal craniofacial morphology Irx1tm1.1(KOMP)Vlcg HOM E12.5 0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote Ambiguous
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 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
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo 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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Section

28 Images

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Gross Morphology Embryo E12.5

Images

6 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Slit Lamp

2 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

MicroCT E18.5

Embryo reconstruction

6 Images

Auditory Brain Stem Response

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

7 Images

Electroretinography 2

Rod and cone PDF

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
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Bruising susceptibility... ORPHA:49042
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Respiratory distress, Temporomandibular joint ankylosis, Micr... ORPHA:141152
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Fragile skin, Oral mucosal blisters ORPHA:79406
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Atrophic scars, Oral mucosal blisters, Enamel hypoplasia, Fragile skin ORPHA:79405
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Perching Syndrome
Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, High palate, Dysphagia OMIM:617055
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Atelectasis, Chronic sinusitis, Bronchiectasis OMIM:615294
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Respiratory distress, Micrognathia, Gingival overgrowth, Median cleft palate, Mandi... ORPHA:1832
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia OMIM:226650
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... ORPHA:199306
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth OMIM:183300
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr... OMIM:614669
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
48,Xyyy Syndrome
Recurrent upper respiratory tract infections, Long philtrum, Thick lower lip vermilion, Aggressiv... ORPHA:99329
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Respiratory distress, Death i... ORPHA:166272
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... ORPHA:70589
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Chronic sinusiti... ORPHA:922
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Carious teeth, Enamel hypoplasia, Death in infancy OMIM:226700
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... OMIM:618761
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... OMIM:610921
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Scarring alopecia of scalp, Carious teeth OMIM:619787
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Ectodermal dysplasia, Enamel hypoplasia OMIM:613576
Intellectual Disability, Birk-Barel Type
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... ORPHA:166108
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... OMIM:619773
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Neonatal respiratory distress, Carious teeth, Increased connective tissue, Scarring alopecia of s... OMIM:226670
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel OMIM:203550
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border ORPHA:139474
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Cutis marmorata, Thin upper lip vermilion, Achilles tendon contracture, Inci... OMIM:619719
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Atelectasis, Respiratory distress, Death in infancy, Neonatal death, High palate OMIM:300219
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... OMIM:613684
Trichodental Dysplasia
Hypodontia, Conical tooth, Odontodysplasia OMIM:601453
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Respiratory distress, Death ... OMIM:184260
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Steatocystoma Multiplex
Natal tooth OMIM:184500
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Retrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contra... OMIM:617194
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Filippi Syndrome
Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh... OMIM:272440
C1Q Deficiency 2
Atelectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tra... OMIM:620321
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Congenital Myopathy 14
Elbow flexion contracture, Apnea, Knee flexion contracture, Hip contracture, Death in infancy, Re... OMIM:618414
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory insuf... ORPHA:60032
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Livedo, Facial telangiectasia, Telangiectasia, Conical incisor, Enamel hypoplasia OMIM:614564
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Hypoxemia, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachyp... ORPHA:70587
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys... OMIM:267450
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory distress, Camptodactyly of finger, High palate, Dysphagia,... OMIM:614399
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Inguinal hernia, Hip contracture,... OMIM:618363
Ectodermal Dysplasia/Short Stature Syndrome
Dysphagia, Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Fra... ORPHA:251393
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Hall-Riggs Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri... OMIM:234250
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, Micrognathia, Neonatal death, Respiratory insufficiency due to muscle weakness, Hig... OMIM:611890
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Micrognathia, Apnea, Cyanosi... ORPHA:2257
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Abnormality of the dentition, Delayed eruption of teeth, Atelectasis, Generalized abn... ORPHA:2314
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Persistence of primary teeth, Purpura, Pulmonary infiltrates ORPHA:375
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Micrognathia, Respiratory insufficiency due to muscle weakness OMIM:300580
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, Obsessive-compulsive trait, Motor ster... OMIM:618825
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Telangiectasia of the skin, Narrow ... ORPHA:3019
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Retrognathia, Thick lower lip vermilion, Bruxism, Persistence of primary teeth, ... OMIM:618342
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Respiratory distress, Ground-glass opacification, Cys... OMIM:610978
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate OMIM:615502
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... OMIM:300602
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Respiratory distress, Aspiration... ORPHA:70588
Odontomicronychial Dysplasia
Abnormality of the dentition, Carious teeth, Premature loss of primary teeth, Premature eruption ... ORPHA:1811
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate OMIM:613849
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Dental crowding, Retrognathia, Arthrogryposis multiplex congenita, Elb... OMIM:617468
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Enamel hy... OMIM:253250
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Absent uvula, Arthr... OMIM:616531
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth, Shagreen patch ORPHA:1816
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Congenital diaphragmatic hernia, Neonatal death, Cleft palate, Pulmon... OMIM:615524
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Neuralgic Amyotrophy
Bifid uvula, Respiratory insufficiency, Narrow mouth, Acrocyanosis, Cleft palate ORPHA:2901
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Retrognathia, Abnormal lung lobation, Camptodactyly of finger, Thin vermilion border, Cleft palat... ORPHA:2631
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Waardenburg Syndrome Type 3
Acrocyanosis, Tented upper lip vermilion, Atelectasis, Camptodactyly of finger ORPHA:896
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Congenital contracture, Respiratory distress, Micrognathia, Death ... OMIM:615042
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... ORPHA:10
Trichodentoosseous Syndrome
Taurodontia, Microdontia, Widely spaced teeth OMIM:190320
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Ectodermal dysplasia, Enamel hypoplasia, Widely spaced teeth OMIM:613573
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth OMIM:300934
Hyperekplexia 4
Umbilical hernia, Inguinal hernia, Distal arthrogryposis, Camptodactyly, High palate, Flexion con... OMIM:618011
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Generalized abnormality of skin, Atrophic scars, Oral mucosal blisters, Fragile skin ORPHA:79411
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia ORPHA:181
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Micrognathia, Abnormality of ... ORPHA:2863
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... ORPHA:254361
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Attention deficit hyperactivity... OMIM:619736
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Dysphagia, Respiratory failure, Respiratory failure requiring assi... ORPHA:90117
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Atelectasis, Respiratory insufficiency, Open mouth, P... ORPHA:258
Teeth Present At Birth
Natal tooth OMIM:187050
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border OMIM:618506
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Abnormal lung lobation, Micrognathia, Congenital diaphragmatic hernia, Abnormal p... ORPHA:2063
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy, Umbilical hernia OMIM:254120
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:612843
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Attention deficit hyperactiv... OMIM:618205
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Tongue atrophy, Respiratory failure OMIM:613435
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti... ORPHA:952
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent pneumonia, Dental malocclusion, Widely spaced teeth, Recurrent bronchitis, Exaggerated ... OMIM:619293
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion OMIM:619797
Pneumocystosis
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Pleural ef... ORPHA:723
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Ectodermal Dysplasia With Adrenal Cyst
Ectodermal dysplasia, Delayed eruption of teeth OMIM:129550
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,... OMIM:613823
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia OMIM:270200
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Micrognathia, Knee fl... ORPHA:1143
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Recurrent respiratory infections, Cyanosis, Dyspnea, Choking episo... ORPHA:2004
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleural effusion, Abnorm... ORPHA:2902
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Respiratory distress, High palate, Respiratory failu... ORPHA:596
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar OMIM:302350
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth, Omphalocele OMIM:614450
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary infiltrates, Tachypnea, A... ORPHA:178320
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Death in infancy, Oral mucosal blisters, Enamel hypoplasia, Fragile skin, Arthrog... OMIM:226730
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Chylothorax, Respiratory distress, Death in childhood, Death in in... OMIM:620278
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Retrognathia, Respiratory insufficiency, Micrognathia, Gingiv... OMIM:618186
Laron Syndrome
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Prematurely aged appearance ORPHA:633
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Hypoxemia, Pleural effusion, Parenchymal consolidation, Pulmonar... ORPHA:36238
Sulfite Oxidase Deficiency, Isolated
Death in infancy, Delayed eruption of teeth, Agitation OMIM:272300
Cockayne Syndrome Type 2
Progeroid facial appearance, Widely spaced primary teeth, Hypoplasia of the primary teeth, Delaye... ORPHA:90322
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Respiratory distress, Abnormality of t... ORPHA:2759
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Head-banging, Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent ... OMIM:619356
Intermediate Nemaline Myopathy
High, narrow palate, Long philtrum, Dysphagia, Flexion contracture, Arthrogryposis multiplex cong... ORPHA:171433
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate OMIM:605282
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Neonatal respiratory distress, Chronic bronchitis, Recurrent sinusitis, Resp... OMIM:608647
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Cutaneous photosensitivity OMIM:616390
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection... ORPHA:244
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Flexion contracture, Respiratory failure, Respiratory insufficiency due to ... OMIM:300717
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Macroglossia, High palate, Re... ORPHA:254864
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Anorexia, Dyspnea, Hypoxemia, Pulmonary opacity ORPHA:330012
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Retrognathia, Abnormal lip morphology, Respiratory distress, Abnormal upper ... ORPHA:2707
Dermatitis Herpetiformis
Dental enamel pits, Erythema, Delayed eruption of teeth, Erosion of oral mucosa, Urticaria ORPHA:1656
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory distress, Respiratory insufficiency d... ORPHA:254875
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
4H Leukodystrophy
Dysphagia, Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Choanal Atresia
Recurrent respiratory infections, Respiratory distress, Cyanosis, Chronic sinusitis, Choking epis... ORPHA:137914
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth OMIM:212780
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Respiratory distress, Recurrent acute respiratory tract infecti... OMIM:620011
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:363417
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Micrognathia ORPHA:1423
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Respiratory failure, Joint contracture, Respiratory insufficiency OMIM:616081
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin, Palmoplantar cutis laxa OMIM:229200
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Ullrich Congenital Muscular Dystrophy
Elbow flexion contracture, Micrognathia, Knee flexion contracture, Abnormal palate morphology, Fl... ORPHA:75840
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Recurrent pneumonia, Delayed eruption of teeth, Lon... OMIM:214150
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Ging... ORPHA:137834
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or... ORPHA:2032
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Exertional dy... ORPHA:3348
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia OMIM:610706
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... ORPHA:364028
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Multiple Mitochondrial Dysfunctions Syndrome 3
Retrognathia, Respiratory insufficiency, High palate, Arthrogryposis multiplex congenita, Respira... OMIM:615330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ve... ORPHA:438216
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Natal tooth, Atelectasis, Respiratory insufficiency, Hamartoma of tongue, M... OMIM:269860
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Recurrent pneumonia, Persistence of primary teeth, ... OMIM:619752
Nemaline Myopathy 8
Flexion contracture, Dysphagia, Respiratory failure, Death in infancy OMIM:615348
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Fragile... OMIM:226600
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Widely spaced teeth, Stereotypical body rocking, Open mouth, Advance... OMIM:617865
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Oligodontia, Hypodontia, Scarring alopecia of scalp, Jaundice ORPHA:59303
Restrictive Dermopathy 2
Respiratory distress, Hypoplastic facial bones, Microretrognathia, Cyanosis OMIM:619793
Congenital Myasthenic Syndrome
Microretrognathia, Recurrent respiratory infections, Intermittent episodes of respiratory insuffi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Recurrent respiratory infections, Intermittent episodes of respiratory insuffi... ORPHA:98914
Braddock-Carey Syndrome 1
Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, Camptodactyly, U-Shaped u... OMIM:619980
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... ORPHA:69087
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Carious teeth, Bruising susceptibility, Long philtrum, Atelectasis, Re... ORPHA:536467
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory insufficiency, Abnormality of connective tissue, Mu... ORPHA:370968
Lethal Congenital Contracture Syndrome 1
Neonatal death, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:253310
Specific Granule Deficiency 2
Tooth malposition, Conical tooth, Recurrent pneumonia, Death in childhood, Death in infancy, Amel... OMIM:617475
Atelosteogenesis, Type Ii
Respiratory insufficiency, Micrognathia, Malar flattening, Death in infancy, Stillbirth, Cleft pa... OMIM:256050
Chand Syndrome
Atelectasis, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenes... ORPHA:1401
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Natal tooth, Micrognathia, Dysphagia, Recurrent lower respiratory trac... OMIM:617802
Taurodontism
Taurodontia OMIM:272700
Malan Syndrome
Retrognathia, Cutis marmorata, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, ... OMIM:614753
Oculoskeletodental Syndrome
Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia ORPHA:557003
Cryptogenic Organizing Pneumonia
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... ORPHA:1302
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Orthopnea, High palate, Respiratory failure ORPHA:98913
Agnathia-Otocephaly Complex
Microglossia, Respiratory distress, Aglossia, Micrognathia, Narrow mouth, Mandibular aplasia, Cle... OMIM:202650
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle weakness, Apneic episode... OMIM:254210
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, Ingu... OMIM:614607
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Dysphagia, Flexion contracture, Arthrogryposis multiplex congenita... OMIM:616867
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency OMIM:618328
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Erythema, Urticaria ORPHA:816
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Contractures of the large joints, Recurrent respiratory infections, Respirat... ORPHA:329178
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Joint contracture of the hand, Dental malocclusion, Delayed eruption of teeth, Cigar... OMIM:612350
Cutis Laxa, Autosomal Recessive, Type Ic
Morgagni diaphragmatic hernia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Retrogn... OMIM:613177
Radio-Renal Syndrome
High, narrow palate, Chylothorax, Downturned corners of mouth, Retrognathia, Respiratory distress... ORPHA:3015
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Ectodermal dysplasia, Natal tooth, Oligodontia OMIM:601345
Hypoglossia With Situs Inversus
Microglossia, Respiratory distress, Micrognathia, Narrow mouth, Hypodontia, High palate OMIM:612776
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Raine Syndrome
Mandibular prognathia, Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mout... OMIM:259775
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... ORPHA:2409
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Neuromuscular dysphagia, Retrognathia, Sudden... ORPHA:466722
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Pontocerebellar Hypoplasia, Type 4
Dysphagia, Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Respiratory distress, Omphalocele, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Lipoid pneumonia, Inguinal hernia, Dyspnea, Respiratory failure OMIM:620326
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Cranioectodermal Dysplasia
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... ORPHA:1515
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Dysphagia, Respiratory failure, Respiratory insufficiency due to ... ORPHA:2590
Pachyonychia Congenita
Natal tooth, Oral leukoplakia, Respiratory distress, Angular cheilitis, Advanced eruption of teeth ORPHA:2309
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis, Lip discoloration ORPHA:621
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Advanced eruption of ... ORPHA:1133
Alfadhel Syndrome
Retrognathia, Smooth philtrum, Aggressive behavior, Thin vermilion border, Short philtrum, Nasal ... OMIM:620655
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Dysphagia, Recurrent respiratory infection... ORPHA:77260
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Downturned corners of mouth, Camptodactyly of finger, Open bite, Narrow mout... ORPHA:1327
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Delayed eruption of teeth, Retrognathia, Umbilical hernia, Gingiva... OMIM:235510
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Respiratory failure, Respiratory insufficiency ORPHA:266
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Peripheral pulmonary artery stenosis, Delayed er... ORPHA:2712
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... ORPHA:915
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Pseudohypoparathyroidism Type 1B
Dyspnea, Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Lethal Acantholytic Erosive Disorder
Natal tooth, Camptodactyly of toe, Fragile skin, Respiratory failure, Cleft palate ORPHA:158687
Oromandibular Dystonia
Abnormal lip morphology, Abnormality of the temporomandibular joint, Respiratory distress, Abnorm... ORPHA:93958
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Retrognathia, Camptodactyly of finger, Death in infancy, Short philtrum, Wide mouth, Respiratory ... ORPHA:1194
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Ground-glass opacification, Cyanosis, Tachypnea, D... ORPHA:91359
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Dental crowding, Umbilical her... OMIM:619769
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Motor stereotypy, Death in infancy OMIM:616341
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced... OMIM:300978
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Oral-pharyngeal dysphagia, Misalignment of incisors, Oligodontia, Hypodontia, En... OMIM:619184
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Delayed eruption of teeth, Long philtrum, Broad philtrum, Thick vermilion border... OMIM:616354
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Coffin-Siris Syndrome 3
Long philtrum, Umbilical hernia, Delayed eruption of permanent teeth, Inguinal hernia, Thick verm... OMIM:614608
Amyotrophic Lateral Sclerosis 28
Dysphagia, Respiratory failure OMIM:620452
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Malar flattening, Protruding tongue, Motor stereotypy,... OMIM:610253
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth OMIM:617102
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Micrognathia, Microdontia OMIM:112240
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Death in childhood, D... OMIM:211530
Scedosporiosis
Pneumonia, Bronchitis, Apical pulmonary opacity, Sinusitis, Pulmonary fibrosis, Pleuritis, Respir... ORPHA:449280
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Long philtrum, Thin upper lip vermilion OMIM:614741
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Recurrent pneumonia, Respiratory distress, Micrognathia, Malar flatten... OMIM:613848
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta OMIM:613982
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Qazi-Markouizos Syndrome
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum ORPHA:3010
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Micrognathia, Multiple joint contractures, Central apnea, Respiratory insufficiency due to muscle... OMIM:618291
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Enamel hypoplasia, Widely spaced teeth OMIM:620193
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Long philtrum OMIM:312170
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia, Thin vermilion border, Short philtrum, Lipoatrophy ORPHA:261304
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Congenital Syphilis
Pneumonia, Hyperplasia of the maxilla, Petechiae, Mulberry molar, Prolonged neonatal jaundice, No... ORPHA:499009
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Cutis m... OMIM:157980
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted lower lip vermilion, M... ORPHA:534
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ... ORPHA:420561
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased connective tissue, Respiratory insufficiency ORPHA:238329
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Camptodactyly, Dysphagia OMIM:619751
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Hypoplasia of teeth, Flexion contracture, Accessory oral frenulum ORPHA:88630
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg... OMIM:210600
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Delayed eruption of teeth, Respiratory insufficienc... ORPHA:2484
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Glycine Encephalopathy With Normal Serum Glycine
Retrognathia, Elbow flexion contracture, Apnea, Hip contracture, Dysphagia, Flexion contracture, ... OMIM:617301
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... ORPHA:763
Tetrasomy 5P
Long philtrum, Recurrent respiratory infections, Respiratory distress, Micrognathia, Cyanosis, Pe... ORPHA:3309
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Micrognathia, Natal tooth, Death in childhood, Death in infancy OMIM:616901
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Absent frontal sinuses, Bronchie... OMIM:244400
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Micrognathia, Tented uppe... ORPHA:314655
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, Elbow contracture, Achilles tendon contracture, High palate, Dysphagia, Resp... OMIM:620249
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Delayed eruption of teeth OMIM:617105
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Swollen lip ORPHA:100057
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infection... OMIM:617180
Hall-Riggs Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ... ORPHA:2107
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Microretrognathia OMIM:616294
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Emphyse... ORPHA:289
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Craniometaphyseal Dysplasia, Autosomal Recessive