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Gene: Specc1l MGI:1921642

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Gene Summary

Name:
sperm antigen with calponin homology and coiled-coil domains 1-like
Synonyms:
9530057A13Rik,  4932439K10Rik,  Specc1l,  4930470P14Rik,  Cytsa

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Specc1lem1(IMPC)J HOM Early adult 3.05×10-05
hyperactivity Specc1lem1(IMPC)J HOM Early adult 2.28×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Electroretinography 3

Fundus file

5 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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Eye Morphology

Images Slit Lamp

2 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Specc1l mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Specc1l by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Teebi Hypertelorism Syndrome 1
Dental crowding, Natal tooth, Long philtrum, Thin upper lip vermilion, Omphalocele OMIM:145420
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Umbilical hernia, Advanced eruption of teeth, Orofacial cleft, Everted lower lip v... ORPHA:1519

The table below shows human diseases predicted to be associated to Specc1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Hydrocephalus, Omphalocele OMIM:258320
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Syngnathia
Cleft palate OMIM:119550
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft l... OMIM:601357
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Acalvaria
Spina bifida, Hydrocephalus, Omphalocele, Holoprosencephaly, Cleft palate ORPHA:945
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Schisis Association
Unilateral cleft lip, Congenital diaphragmatic hernia, Encephalocele, Tracheoesophageal fistula, ... ORPHA:63862
Omphalocele
Omphalocele ORPHA:660
Fetal Valproate Spectrum Disorder
Downturned corners of mouth, Long philtrum, Narrow mouth, Omphalocele, Thin vermilion border ORPHA:1906
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
2q33.1 deletion syndrome
High palate, Inguinal hernia, Cleft palate DECIPHER:51
Uvula, Bifid
Bifid uvula OMIM:192100
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Omphalocele, Cleft palate ORPHA:2736
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Adamantinoma
Hypercalcemia ORPHA:55881
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Microphthalmia/Coloboma 4
Coloboma OMIM:251505
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate OMIM:302905
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... ORPHA:63260
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Omphalocele, Meningocele, Anencephaly, Cleft palate OMIM:603194
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of the upper lip, Cleft... ORPHA:2476
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Coloboma, Occipital encephalocele, Hydrocephalus ORPHA:324416
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Triploidy
Intestinal malrotation, Wide mouth, Narrow mouth, Hydrocephalus, Omphalocele, Macroglossia, Menin... ORPHA:3376
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Caudal Duplication
Myelomeningocele, Intestinal duplication, Spina bifida, Omphalocele ORPHA:1756
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Omphalocele, Umbilical hernia OMIM:275100
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Microphthalmia/Coloboma 6
Coloboma OMIM:613703
Cleft Soft Palate
Cleft soft palate OMIM:119570
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth OMIM:183300
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Pyknoachondrogenesis
Stillbirth OMIM:265880
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Abnormal oral frenulum morphology, Coloboma, Short philtrum, Cleft palate ORPHA:1617
Thoracoabdominal Syndrome
Cleft upper lip, Congenital diaphragmatic hernia, Ventral hernia, Hydrocephalus, Omphalocele, Ane... OMIM:313850
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Rhiny
Thin vermilion border, Inguinal hernia OMIM:180360
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Iris coloboma, Cleft palate, Cleft upper lip, Chorioretinal coloboma OMIM:120433
Craniofacial Microsomia 2
Bifid uvula, Dermal sinus tract, Submucous cleft palate OMIM:620444
Miller-Dieker Syndrome
Abnormal upper lip morphology, Omphalocele ORPHA:531
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Long philtrum, Omphalocele OMIM:190440
Distal Duplication 15Q
Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Anal atresia, Omphalocele, H... ORPHA:1707
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Median cle... OMIM:136760
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Isolated Anencephaly
Cleft lip, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Encephalocele, Omphalocele, Cleft palate, Bladder exstrophy, Gast... OMIM:217100
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anencephaly OMIM:619452
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Iris colo... ORPHA:2143
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Gastroschisis ORPHA:1198
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Encephalocele, Orofacial cleft, Hydrocephalus, Omphalocele, Anen... ORPHA:1335
Iniencephaly
Spinal dysraphism, Myelomeningocele, Narrow mouth, Congenital diaphragmatic hernia, Encephalocele... ORPHA:63259
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth, Omphalocele OMIM:614450
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Esophageal atresia, Omphalocele, Anal atresia, Cleft palate ORPHA:95706
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Isolated Hemihyperplasia
Myelomeningocele, Abnormality of the dentition, Inguinal hernia ORPHA:2128
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Abnormal palate morphology, Coloboma, Iris coloboma, Cleft palate ORPHA:921
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Glycine Encephalopathy 1
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Diprosopus
Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula... OMIM:618529
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Camptodactyly of toe, Hydroceph... OMIM:175700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Pai Syndrome
Bifid uvula, Midline central nervous system lipomas, Encephalocele, Median cleft upper lip, Abnor... ORPHA:1993
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Biemond Syndrome Type 2
Coloboma, Hydrocephalus ORPHA:141333
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Omphalocele ORPHA:93267
Joubert Syndrome 16
Coloboma, Encephalocele OMIM:614465
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate ORPHA:217
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
15Q24 Microdeletion Syndrome
Abnormality of the dentition, Long philtrum, Thick lower lip vermilion, Myelomeningocele, Narrow ... ORPHA:94065
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Pseudotrisomy 13 Syndrome
Cleft upper lip, Median cleft palate, Encephalocele, Median cleft upper lip, Anal atresia, Hydroc... OMIM:264480
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma OMIM:610023
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Intestinal malrotation, Narrow mouth, Encephalocele, Orofacial cleft, Anal atre... ORPHA:2166
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Bladder Exstrophy
Umbilical hernia, Intestinal malrotation, Inguinal hernia, Abnormality of the anus, Omphalocele, ... ORPHA:93930
Parietal Foramina 1
Cleft palate, Encephalocele, Cleft upper lip OMIM:168500
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... OMIM:618761
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Median cleft palate,... OMIM:610828
Trisomy 18
Narrow palate, Camptodactyly of finger, Narrow mouth, Congenital diaphragmatic hernia, Anencephal... ORPHA:3380
Baraitser-Winter Syndrome 2
Long philtrum, Thin upper lip vermilion, Orofacial cleft, Coloboma, Wide mouth OMIM:614583
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Anal atresia, Omphalocele OMIM:601389
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anorexia, Hypocalcemia, Hypomagnesemia OMIM:175500
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Long philtrum, Inguinal hernia, Spina bifida, Camptodactyly OMIM:211960
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Solitary median maxillary central incisor, Torus... OMIM:147250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Diastasis recti, Inguinal hernia, Open mouth, Exaggerated cupid... ORPHA:254528
Glycosylphosphatidylinositol Biosynthesis Defect 11
Umbilical hernia, Tented upper lip vermilion, Inguinal hernia, Macroglossia, High palate OMIM:616025
Vacterl/Vater Association
Occipital encephalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Omphalocele,... ORPHA:887
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Anophthalmia Plus Syndrome
Tessier cleft, Bilateral cleft palate, Spina bifida, Iris coloboma, Non-midline cleft of the uppe... ORPHA:1104
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Trisomy 1Q
Camptodactyly of finger, Narrow mouth, Congenital diaphragmatic hernia, Hydrocephalus, Omphalocel... ORPHA:261344
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Focal Dermal Hypoplasia
Abnormality of the dentition, Chorioretinal coloboma, Camptodactyly of finger, Umbilical hernia, ... ORPHA:2092
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long philtrum, Intestinal malrotation, Exaggerated cupid's bow, Thin upper lip vermilion, Smooth ... OMIM:618316
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma OMIM:274270
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Chromosome 9P Deletion Syndrome
High, narrow palate, Narrow palate, Long philtrum, Narrow mouth, Inguinal hernia, Thin upper lip ... OMIM:158170
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Diastasis recti, Omphalocele, Umbilical hernia ORPHA:254534
Coloboma Of Macula And Skeletal Anomalies
Macular coloboma, Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger OMIM:216800
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Coach Syndrome 2
Coloboma, Hydrocephalus, Chorioretinal coloboma OMIM:619111
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Fryns Syndrome
Non-midline cleft of the upper lip, Long philtrum, Intestinal malrotation, Tented upper lip vermi... ORPHA:2059
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Aqueductal stenosis, Omphalocele ORPHA:3035
Joubert Syndrome 14
Tented upper lip vermilion, Open mouth, Encephalocele, Coloboma, Hydrocephalus, Meningocele, Shor... OMIM:614424
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Branchio-Oculo-Facial Syndrome
Upper lip pit, Atypical scarring of skin, Tooth agenesis, Microdontia, Orofacial cleft, Deep phil... ORPHA:1297
Axial Mesodermal Dysplasia Spectrum
Gingival overgrowth, Congenital diaphragmatic hernia, Abnormal intestine morphology, Tracheoesoph... ORPHA:1834
Gillessen-Kaesbach-Nishimura Syndrome
Smooth philtrum, Flexion contracture, Congenital diaphragmatic hernia, Omphalocele OMIM:263210
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Myelomeningocele, Narrow mouth, Encephalocele, Anodontia, Oligodontia, H... ORPHA:90652
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Downturned corners of mouth, Diastema, Umbilical hernia, Inguinal hernia, Thin upper lip vermilio... ORPHA:329224
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Inguinal hernia, Cleft palate, Tooth agenesis ORPHA:1135
Cloacal Exstrophy
Intestinal duplication, Intestinal malrotation, Myelomeningocele, Cloacal exstrophy, Spina bifida... ORPHA:93929
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Inguinal hernia, Chorioretinal coloboma, Umbilical hernia ORPHA:2196
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Acropectorovertebral Dysplasia
High, narrow palate, Spina bifida, Cleft palate, Camptodactyly of finger ORPHA:957
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Carpenter Syndrome 1
Joint contracture of the hand, Umbilical hernia, Agenesis of permanent teeth, Persistence of prim... OMIM:201000
Auriculocondylar Syndrome 2B
Mandibular condyle hypoplasia, Narrow mouth, Omphalocele OMIM:620458
Holoprosencephaly
Spinal dysraphism, Chorioretinal coloboma, Tooth agenesis, Median cleft palate, Congenital diaphr... ORPHA:2162
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Iris colo... OMIM:222448
Acrocallosal Syndrome
Everted upper lip vermilion, Narrow mouth, Open mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Encephalocele, Incomplete cleft of the upper lip, Om... OMIM:616300
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Joint contracture of the hand, Anal stenosis, Natal tooth, Dental malocclusion, Dent... OMIM:300373
Verheij Syndrome
Branchial cyst, Long philtrum, Thin upper lip vermilion, Coloboma, Cleft palate OMIM:615583
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Multiple lipomas, Hydrocephalus, Lipoma, Anencephaly OMIM:182940
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate OMIM:217150
Phenylketonuria
Self-mutilation, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, Aggres... OMIM:261600
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Inguinal hernia, M... OMIM:269860
Ritscher-Schinzel Syndrome 1
Anal atresia, Coloboma, Hydrocephalus, Cleft palate OMIM:220210
Joubert Syndrome 23
Coloboma OMIM:616490
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Arthrogryposis multiplex congenita, Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cleft lip, Optic disc coloboma, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic herni... OMIM:618454
Developmental And Epileptic Encephalopathy 89
Long philtrum, Neonatal death, Thin upper lip vermilion, Smooth philtrum, Omphalocele, Flexion co... OMIM:619124
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Cleft palate OMIM:614120
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate ORPHA:66637
Kagami-Ogata Syndrome
Long philtrum, Diastasis recti, Inguinal hernia, Omphalocele, Flexion contracture OMIM:608149
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Open mouth, Coloboma, Everted lower lip vermilion, Macroglossia, Wide mouth OMIM:616789
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Stevenson-Carey Syndrome
Joint contracture of the hand, Downturned corners of mouth, Narrow mouth, Coloboma, Camptodactyly... OMIM:611961
Timothy Syndrome
Hypocalcemia OMIM:601005
Teebi Hypertelorism Syndrome 1
Dental crowding, Natal tooth, Long philtrum, Thin upper lip vermilion, Omphalocele OMIM:145420
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Omphalocele OMIM:601927
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Narrow mouth, Multiple impacted teeth, Omphalocele, Cleft palate OMIM:311300
3Mc Syndrome 1
Cleft lip, Dental crowding, Cleft upper lip, Diastasis recti, Abnormality of the abdominal wall, ... OMIM:257920
Fibrochondrogenesis 1
Joint contracture of the hand, Long philtrum, Narrow mouth, Omphalocele, Stillbirth, Camptodactyl... OMIM:228520
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Lethal Congenital Contracture Syndrome 10
Long philtrum, Omphalocele, High palate, Macroglossia, Narrow palate OMIM:617022
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip vermilion, Inguinal her... OMIM:247200
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Intestinal malrotation, Intestinal obstruction, Jejunal atresia, ... OMIM:243150
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Long philtrum OMIM:617895
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Hypodontia, Anal atresia, Neural tube defect OMIM:119580
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Meckel Syndrome, Type 5
Cleft palate, Occipital encephalocele, Cleft upper lip, Anencephaly OMIM:611561
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Marcus-Gunn Syndrome
Cleft lip, Coloboma, Cleft palate ORPHA:91412
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Thick lower lip vermilion, Congenital diaphra... ORPHA:1692
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Median cleft upper lip, Orofacial cleft, Omphalocele, Cyclopia, Holoprosencephaly, Iris coloboma ORPHA:3186
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu... OMIM:616894
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Chromosome 10Q26 Deletion Syndrome
Long philtrum, Thin upper lip vermilion, Smooth philtrum, Omphalocele, High palate OMIM:609625
Opitz Gbbb Syndrome
Cleft lip, Natal tooth, Long philtrum, Umbilical hernia, Ankyloglossia, Inguinal hernia, Congenit... ORPHA:2745
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Long philtrum, Narrow mouth, Exaggerated cupid's bow, Smooth philtrum, Coloboma, Wide mouth OMIM:618659
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Fibrochondrogenesis
Cleft palate, Narrow mouth, Omphalocele, Camptodactyly of finger ORPHA:2021
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
C Syndrome
Thick anterior alveolar ridges, Omphalocele, High palate, Wide mouth, Accessory oral frenulum OMIM:211750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Inappropriate laughter, Hypocalcemia OMIM:618476
Neurooculocardiogenitourinary Syndrome
Smooth philtrum, Coloboma, Downturned corners of mouth OMIM:618652
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Cleft palate OMIM:601355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Hydrocephalus OMIM:613153
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Holoprosencephaly 11
Holoprosencephaly, Cleft lip, Cleft palate OMIM:614226
Pontocerebellar Hypoplasia, Type 11
Anal atresia, Coloboma OMIM:617695
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Thin vermilion border, Coloboma, Gingival overgrowth, Long philtrum ORPHA:464288
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Coloboma, Occipital encephalocele, Hydrocephalus ORPHA:370959
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Coloboma OMIM:619318
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Enlarged Parietal Foramina
Myelomeningocele, Cleft lip, Occipital encephalocele, Cleft palate ORPHA:60015
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Alg3-Cdg
Lipodystrophy, Macroglossia, High palate, Arthrogryposis multiplex congenita, Abnormal uvula morp... ORPHA:79321
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation OMIM:615516
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft upper lip, Cyclopia, Holoprosencephaly, Cleft palate ORPHA:2165
Meckel Syndrome, Type 1
Natal tooth, Occipital encephalocele, Cleft upper lip, Camptodactyly of finger, Intestinal malrot... OMIM:249000
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Polyphagia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Coach Syndrome 1
Occipital encephalocele, Encephalocele, Coloboma, Wide mouth, Esophageal varix OMIM:216360
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft, Median cleft upper lip, Iris coloboma, Cleft palate ORPHA:3374
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Intestinal malrotation, Microcolon, Omphalocele, Umbilical hernia ORPHA:2241
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Focal Dermal Hypoplasia
Chorioretinal coloboma, Congenital diaphragmatic hernia, Iris coloboma, Myelomeningocele, Aniridi... OMIM:305600
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Melnick-Needles Syndrome
Tooth malposition, Delayed eruption of teeth, Omphalocele ORPHA:2484
Esophageal Atresia
Barrett esophagus, Cleft lip, Intestinal malrotation, Esophagitis, Coloboma, Tracheoesophageal fi... ORPHA:1199
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Joubert Syndrome 22
Coloboma OMIM:615665
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Coloboma, Lipodystrophy, Odontogenic keratocysts of the ja... ORPHA:199276
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Agenesis of pe... ORPHA:251028
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Kagami-Ogata Syndrome
Pursed lips, Large placenta, Diastasis recti, Inguinal hernia, Omphalocele, Broad philtrum ORPHA:254519
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Iris coloboma, Omphalocele ORPHA:371428
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Cree Impaired Intellectual Development Syndrome
Cleft soft palate, Coloboma OMIM:606851
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Abnormal oral frenulum morphology, Orofacial cleft, Ev... ORPHA:1752
2Q31.1 Microdeletion Syndrome
Downturned corners of mouth, Optic disc coloboma, Camptodactyly of finger, Long philtrum, Inguina... ORPHA:251014
Aase-Smith Syndrome I
Flexion contracture, Open mouth, Hydrocephalus, Cleft palate OMIM:147800
Marshall-Smith Syndrome
Eclabion, Anteriorly placed anus, Umbilical hernia, Gingival overgrowth, Irregular dentition, Mic... OMIM:602535
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Fryns Syndrome
Joint contracture of the hand, Meckel diverticulum, Long philtrum, Cleft upper lip, Intestinal ma... OMIM:229850
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polydipsia OMIM:617994
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Submucous cleft hard palate, Hydrocephalus, An... ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Coloboma, Hydrocephalus OMIM:615249
Oeis Complex
Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Myelomeningocele, Cloacal exstr... OMIM:258040
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
D-Lactic Aciduria With Gout
Aniridia, Inguinal hernia OMIM:245450
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Omphalocele, Anteriorly placed anus OMIM:248450
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate OMIM:611134
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Polyphagia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Pagod Syndrome
Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Omphalocele, Meningocele ORPHA:991
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Inguinal hernia, Coloboma, High palate, Hypoplasia of teeth, Clef... OMIM:603457
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Downturned corners of mouth, Furrowed tongue, Open mouth, Branchial anomaly, Oligodo... ORPHA:453499
Orofaciodigital Syndrome Xix
Carious teeth, Downturned corners of mouth, Cleft soft palate, Narrow mouth, Accessory oral frenu... OMIM:620107
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Lipomas of eyelids OMIM:167730
Bartsocas-Papas Syndrome 1
Tessier cleft, Anal stenosis, Cleft upper lip, Oral synechia, Inguinal hernia, Anal atresia, Omph... OMIM:263650
Myoectodermal Gonadal Dysgenesis Syndrome
Long philtrum, Diastasis recti, Hypodontia, Smooth philtrum, Omphalocele, Thin vermilion border, ... OMIM:618419
Charge Syndrome
Delayed eruption of teeth, Chorioretinal coloboma, Umbilical hernia, Cleft upper lip, Narrow mout... ORPHA:138
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Exstrophy-Epispadias Complex
Anal stenosis, Abdominal wall defect, Cystocele, Inguinal hernia, Cloacal exstrophy, Abnormality ... ORPHA:322
Ethylene Glycol Poisoning
Addictive alcohol use, Hyperkalemia, Hypocalcemia ORPHA:31826
Hypophosphatasia
Hypercalcemia ORPHA:436
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Cleft upper lip, Umbilical hernia, Camptodactyly of finger, Inguinal hernia,... ORPHA:373
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Microphthalmia, Syndromic 5
Coloboma, Cleft palate OMIM:610125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Congenital contracture, Occipital encephalocele, Cleft upper lip, Coloboma, Hydrocephalus, Anal a... OMIM:236670
Kabuki Syndrome
Abnormality of the dentition, Lip pit, Widely spaced teeth, Abnormal dental morphology, Congenita... ORPHA:2322
C Syndrome
Long philtrum, Gingival overgrowth, Congenital diaphragmatic hernia, Smooth philtrum, Aplasia/Hyp... ORPHA:1308
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Co... ORPHA:476126
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum OMIM:612292
Velocardiofacial Syndrome
Aggressive behavior, Hypocalcemia OMIM:192430
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Cleft palate OMIM:607361
Alg9-Cdg
Bifid uvula, Long philtrum, Villous atrophy, Thin upper lip vermilion, Smooth philtrum, Lipodystr... ORPHA:79328
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anorexia OMIM:241500
Hyperparathyroidism, Neonatal Severe
Polydipsia, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H... OMIM:248250
Fraser Syndrome
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Umbilical hernia, Myelomeni... ORPHA:2052
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Srd5A3-Cdg
Coloboma ORPHA:324737
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Umbilical hernia, Advanced eruption of teeth, Orofacial cleft, Everted lower lip v... ORPHA:1519
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Melnick-Needles Syndrome
Tooth malposition, Delayed eruption of teeth, Omphalocele, Stillbirth, Cleft palate OMIM:309350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... ORPHA:352665
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Holoprosencephaly 3
Bifid uvula, Cleft lip, Solitary median maxillary central incisor, Cyclopia, Holoprosencephaly, C... OMIM:142945
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hypocalcemia, Hair-pulling, Polyphagia, Attention def... OMIM:620330
Congenital Disorder Of Glycosylation, Type Iq
Coloboma OMIM:612379
Omphalocele Syndrome, Shprintzen-Goldberg Type
Thin upper lip vermilion, Anal atresia, Downturned corners of mouth, Omphalocele ORPHA:3164
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Long philtrum ORPHA:2211
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Omphalocele OMIM:200995
Ablepharon Macrostomia Syndrome
Umbilical hernia, Camptodactyly of finger, Microdontia, Omphalocele, Thin vermilion border, Wide ... ORPHA:920
Codas Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Omphalocele, Anal atresia, Rectovaginal fistula OMIM:600373
Gitelman Syndrome
Hypermagnesemia, Polydipsia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Salt craving ORPHA:358
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Dysphagia ORPHA:699
Hydrolethalus Syndrome 1
Median cleft upper lip, Omphalocele, Anencephaly, Cleft palate, Severe hydrocephalus OMIM:236680
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Interphalangeal joint contracture of finger, Long philtrum, Large placenta, Di... ORPHA:96334
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Posteriorly placed anus, Hydrocephalus, Omphalocele, Aqueductal stenosis, Anal ... OMIM:306955
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Autosomal Dominant Keratitis
Aniridia, Coloboma ORPHA:2334
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Cleft lip, Meckel diverticulum, Intestinal malrotation, Dia... OMIM:265380
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Abnormal dental morphology, Coloboma OMIM:163200
Limb Body Wall Complex
Cleft lip, Abdominal wall defect, Myelomeningocele, Diastasis recti, Congenital diaphragmatic her... ORPHA:2369
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft pal... OMIM:616331
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Long philtrum, Jejunal atresia, Omphalocele, Holoprosencephaly OMIM:618820
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Beckwith-Wiedemann Syndrome
Umbilical hernia, Large placenta, Diastasis recti, Inguinal hernia, Congenital diaphragmatic hern... ORPHA:116
Oculopalatocerebral Syndrome
Cleft palate, Remnants of the hyaloid vascular system OMIM:257910
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Okamoto Syndrome
Anal stenosis, Exaggerated median tongue furrow, Downturned corners of mouth, Open bite, Intestin... ORPHA:2729
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Combined Immunodeficiency-Enteropathy Spectrum
Jejunoileal ulceration, Intestinal malrotation, Intestinal atresia, Omphalocele, Rectal abscess ORPHA:436252
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Retinal coloboma, Hamartoma of tongue, Occipital meningocele, Congenital diaphragmatic hernia, Hy... OMIM:616546
Nasopalpebral Lipoma-Coloboma Syndrome
Multiple lipomas, Coloboma, Lipomas of eyelids ORPHA:2399
Charge Syndrome
Anal stenosis, Cleft upper lip, Retinal coloboma, Umbilical hernia, Coloboma, Tracheoesophageal f... OMIM:214800
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Short hard palate, Spina bifida, Meningocele, Glossoptosis, Cl... ORPHA:1393
Thauvin-Robinet-Faivre Syndrome
Retinal coloboma, Inguinal hernia, Coloboma, Thick vermilion border, Macroglossia OMIM:617107
Shprintzen Omphalocele Syndrome
Thin vermilion border, Anal atresia, Omphalocele OMIM:182210
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Inguinal hernia, Submucou... ORPHA:2250
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcemia, Increased circu... ORPHA:95409
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence OMIM:620183
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma OMIM:617306
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
22Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Hypocalcemia ORPHA:567
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia, Anorexia ORPHA:199299
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Umbilical hernia, Narrow mouth, Hydrocephalus, Omphalocele, Spina bifida, Clef... OMIM:304120
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Anterior Segment Dysgenesis 2
Aniridia, Coloboma OMIM:610256
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Ablepharon-Macrostomia Syndrome
Anteriorly placed anus, Ventral hernia, Omphalocele, Short upper lip, Camptodactyly, Wide mouth OMIM:200110
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Rubinstein-Taybi Syndrome 1
High, narrow palate, Talon cusp, Narrow palate, Keloids, Dental crowding, Dental malocclusion, Na... OMIM:180849
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Retinal coloboma, Thin upper lip vermilion, Coloboma, Spina bifida, Iris coloboma ORPHA:508498
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Rectal abscess, Sacral lipoma, Dermal... OMIM:600145
Bohring-Opitz Syndrome
Cleft lip, Congenital contracture, Prominent palatine ridges, Coloboma, Bilateral wrist flexion c... ORPHA:97297
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Bruxism, Stereotypical body rocking, Hypocalcemia, Dysphagia, Impulsivity OMIM:619503
Renpenning Syndrome 1
Joint contracture of the hand, Macrodontia, Narrow mouth, Thin upper lip vermilion, Short philtru... OMIM:309500
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Cardiac Diverticulum
Diastasis recti, Abdominal wall defect, Omphalocele, Umbilical hernia ORPHA:1686
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Submucous cleft hard ... OMIM:301043
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Cleft lip, Furrowed tongue, Smooth philtrum, Coloboma, High palate, Duoden... OMIM:616975
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short uvula, Chorioretinal coloboma, Ankyloglossia, Thin upper lip vermilion... OMIM:619475
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Omphalocele OMIM:130650
Addison Disease
Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcemia, Increased circu... ORPHA:85138
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Everted lower lip vermilion, Anal atresia, Inguinal hernia, Thin... OMIM:601803
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Omphalocele, Bif... ORPHA:93271
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Chorioretinal coloboma, Aganglionic megacolon, Coloboma, Iris coloboma ORPHA:959
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Long philtrum OMIM:615877
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Inguinal hernia, Aganglionic megacolo... ORPHA:2273
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Umbilical hernia, Inguinal hernia, Neonatal death, Aganglionic megacolon, Omphalocele, Cleft palate OMIM:308205
Pheochromocytoma
Hypercalcemia OMIM:171300
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Semilobar Holoprosencephaly
Bifid uvula, Cyclopia, Median cleft upper lip, Solitary median maxillary central incisor, Hydroce... ORPHA:220386
Alobar Holoprosencephaly
Bifid uvula, Cyclopia, Median cleft upper lip, Solitary median maxillary central incisor, Hydroce... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Cyclopia, Median cleft upper lip, Solitary median maxillary central incisor, Hydroce... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Cyclopia, Median cleft upper lip, Solitary median maxillary central incisor, Hydroce... ORPHA:93924
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Digeorge Syndrome
Attention deficit hyperactivity disorder, Hypocalcemia OMIM:188400
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Loeys-Dietz Syndrome 5
Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat... OMIM:615582
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Keloids, Dental crowding, Natal tooth, Dental malocclusion, Intestinal malrotation... ORPHA:353281
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Coloboma ORPHA:85167
Orofaciodigital Syndrome Type 10
Cleft soft palate, Long philtrum, Accessory oral frenulum ORPHA:2756
Vipoma
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Anteriorly placed anus, Long philtrum, Cleft soft palate... OMIM:117650
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Short philtrum, Cleft soft palate ORPHA:293725
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Carious teeth, Keloids, Dental crowding, Natal tooth, Dental malocclusion, Intesti... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Carious teeth, Keloids, Dental crowding, Natal tooth, Dental malocclusion, Intesti... ORPHA:353277
Microphthalmia, Syndromic 3
Coloboma, Esophageal atresia OMIM:206900
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Anteriorly placed anus, Umbilical hernia, Inguinal hernia, Short philt... ORPHA:798
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Narrow mouth, Submucous cleft hard palat... OMIM:300990
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Cleft soft palate, Increased overb... OMIM:620450
Somatostatinoma
Hypercalcemia, Anorexia ORPHA:97283
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Cleft upper lip, Elbow flexion contracture, Knee flexion contracture, ... OMIM:268300
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Submucous cleft soft palate, Hypodontia, Cleft hard palate, Cleft palate ORPHA:69085
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Eclabion, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, C... OMIM:619950
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Microphthalmia, Syndromic 6
Bifid uvula, Microglossia, Coloboma, High palate, Cleft palate OMIM:607932
Glucagonoma
Hypercalcemia, Anorexia ORPHA:97280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Coloboma, Everted lower lip vermilion OMIM:253280
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate OMIM:154500
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Proximal Renal Tubular Acidosis
Coloboma, Enamel hypomineralization ORPHA:47159
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Coloboma, Everted lower lip vermilion, Hydrocephalus, Aqueductal stenosis, Esoph... OMIM:619534
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Williams Syndrome
Abnormal circulating lipid concentration, Overfriendliness, Elevated circulating creatine kinase ... ORPHA:904
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia ORPHA:652
Hardikar Syndrome
Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Bilatera... OMIM:301068
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Smooth philtrum, Cleft soft palate, Downturned corners of mouth OMIM:619321
Williams-Beuren Syndrome
Attention deficit hyperactivity disorder, Hypercalcemia, Obsessive-compulsive trait OMIM:194050
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Diamond-Blackfan Anemia
Adenocarcinoma of the colon, Cleft lip, High palate, Cleft soft palate ORPHA:124
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Supernumerary tooth, Cleft soft palate, Widely spaced teeth, Pyloric stenosis ORPHA:268261
Sarcoidosis
Hypercalcemia ORPHA:797
Sotos Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Hypercalcemia ORPHA:821
Viss Syndrome
High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Intestinal malrotation, Chronic ga... OMIM:619472
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Tooth malposition, Dental crowding, Delayed... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Submucous cleft of soft and hard palate, Tooth malposition, Dental crowding, Delayed... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Submucous cleft of soft and hard palate, Tooth malposition, Dental crowding, Delayed... ORPHA:261552
Holt-Oram Syndrome
Cleft soft palate, Long philtrum OMIM:142900

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Specc1l

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Specc1l.

No publications found that use IMPC mice or data for Specc1l.

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MGI Allele Allele Type Produced
Specc1lem1(IMPC)J Exon Deletion Mice

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