Intellectual disability, severe, and Situs inversus totalis

Diseases related with Intellectual disability, severe and Situs inversus totalis

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Situs inversus totalis that can help you solving undiagnosed cases.


Top matches:

High match 22Q11.2 MICRODUPLICATION SYNDROME


The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

High match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

High match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

High match FAMILIAL CONGENITAL MIRROR MOVEMENTS


FAMILIAL CONGENITAL MIRROR MOVEMENTS Is also known as hereditary congenital controlateral synkinesia|isolated congenital controlateral synkinesia|hereditary congenital mirror movements|isolated congenital mirror movements|familial congenital controlateral synkinesia

Related symptoms:

  • Pain
  • Intellectual disability, mild
  • Agenesis of corpus callosum
  • Myalgia
  • Abnormality of movement


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL CONGENITAL MIRROR MOVEMENTS

High match BARDET-BIEDL SYNDROME 8; BBS8


BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Cognitive impairment
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 8; BBS8

High match JOUBERT SYNDROME


Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

High match CARPENTER SYNDROME


Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

High match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

High match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Situs inversus totalis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Intellectual disability, severe and Situs inversus totalis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypospadias Hearing impairment Growth delay Micropenis Failure to thrive Ventricular septal defect High palate Dextrocardia Seizures Specific learning disability Polydactyly Short stature Intrauterine growth retardation Atrial septal defect Postaxial polydactyly Severe short stature Muscular hypotonia Scoliosis Epicanthus Microcephaly Abnormal facial shape Low-set ears Cleft palate Anteverted nares Hypertelorism Iris coloboma Foot polydactyly High, narrow palate Camptodactyly Abnormality of the kidney Talipes equinovarus Sensorineural hearing impairment Micrognathia Obesity Ptosis Pectus carinatum Brachydactyly Neurological speech impairment Long philtrum Delayed speech and language development Brachycephaly Diabetes mellitus Hydronephrosis Upslanted palpebral fissure Generalized hypotonia Postaxial hand polydactyly Hydroureter Pectus excavatum Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Ataxia Coloboma Abnormality of the nail Asthma Hydrometrocolpos Joint stiffness Protruding ear Paraplegia Agenesis of corpus callosum Narrow mouth Nystagmus Decreased testicular size Anal atresia Syndactyly Delayed eruption of teeth External genital hypoplasia Agenesis of permanent teeth Postnatal growth retardation Hypodontia Genu valgum Delayed skeletal maturation Hypoplastic nipples Abnormality of the dentition Hypertension Cognitive impairment Abnormality of the skeletal system Arachnodactyly Septate vagina Aganglionic megacolon Highly arched eyebrow Mild short stature Abnormality of the hair Joint contracture of the hand Renal hypoplasia Short neck Hypoplasia of the maxilla Hydrocephalus Long face Hand polydactyly Clinodactyly of the 5th finger Alopecia Tetralogy of Fallot Abnormal form of the vertebral bodies Renal dysplasia Transposition of the great arteries Hypoplastic left heart Nasal speech Abnormality of the genitourinary system Renal hypoplasia/aplasia Attention deficit hyperactivity disorder Dandy-Walker malformation Abnormality of the pinna Apnea Anxiety Mandibular prognathia Epispadias Midface retrusion Behavioral abnormality Depressed nasal bridge Heterotaxy Narrow face Renal agenesis Cataract Hypogonadism Microphthalmia Kyphoscoliosis Intellectual disability, mild Retrognathia Skeletal muscle atrophy Wide nasal bridge Rod-cone dystrophy Feeding difficulties Microdontia Common atrium Myalgia Primitive reflex Abnormality of the cerebellar vermis Toe syndactyly Congenital ptosis Tremor Poor fine motor coordination Fused cervical vertebrae Webbed neck Wide intermamillary distance Limb joint contracture Abnormality of movement Clumsiness Gait disturbance Craniosynostosis Broad thumb Sparse and thin eyebrow Narrow palate Coxa vara Cutis laxa Hypogonadotrophic hypogonadism Preaxial polydactyly Trigonocephaly Bilateral cryptorchidism Supernumerary nipple Abnormality of the upper urinary tract Easy fatigability Finger syndactyly Umbilical hernia Prominent nasal bridge Abnormality of neuronal migration Oral cleft Pain Bimanual synkinesia Polymicrogyria Abnormal anatomic location of the heart Cerebellar vermis hypoplasia Encephalocele Abnormality of the corticospinal tract Dysgenesis of the hippocampus Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Cutaneous finger syndactyly Biparietal narrowing Patent ductus arteriosus Fixed facial expression Abnormality of the hypothalamus-pituitary axis Abnormal pattern of respiration Episodic tachypnea Frontal bossing Aplasia/Hypoplasia involving the skeletal musculature Feeding difficulties in infancy Cerebral palsy Inferior vermis hypoplasia Zollinger-Ellison syndrome Clinodactyly Abnormality of the penis Hernia Abnormal heart valve morphology Shawl scrotum Reduced visual acuity Amenorrhea Short foot Retinal dystrophy Hirsutism Stage 5 chronic kidney disease Retinal degeneration Astigmatism Pulmonic stenosis Retinopathy Glaucoma Primary amenorrhea Renal insufficiency Macrocephaly Myopia Visual impairment Cone-shaped epiphyses of phalanges 2 to 5 Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Pigmentary retinopathy Abnormality of the genital system Abnormal oral frenulum morphology Poor coordination Biliary tract abnormality Microphallus Tapetoretinal degeneration Menstrual irregularities Vaginal atresia Abnormality of the ovary Gait imbalance Undetectable electroretinogram Broad foot Nephronophthisis Left ventricular hypertrophy Truncal obesity Macular dystrophy Hypoplasia of the uterus Tricuspid regurgitation Radial deviation of finger Clubbing Anosmia Bicuspid aortic valve Hepatic fibrosis Dental crowding Conical incisor Abnormality of bone marrow cell morphology Turricephaly Nail dystrophy Heterotopia Limb undergrowth Nail dysplasia Ectodermal dysplasia Short distal phalanx of finger Thin vermilion border Cleft upper lip Micromelia Narrow chest Skeletal dysplasia Abnormality of dental enamel Abnormal reproductive system morphology Aplasia of the middle phalanx of the hand Narrow naris Diaphragmatic eventration Abnormal cornea morphology Oxycephaly Cloverleaf skull Preaxial foot polydactyly Polysplenia Abnormality of the skull Short ribs Abnormality of the fingernails Neonatal short-limb short stature Synostosis of carpal bones Abnormal oral mucosa morphology Horizontal ribs Abnormal hair quantity Abnormality of female internal genitalia Thoracic dysplasia Hypoplastic iliac wing Acute leukemia Aplasia/Hypoplasia of the lungs Postaxial foot polydactyly Upper limb undergrowth Abnormality of the ureter Short long bone Natal tooth Distal arthrogryposis Disproportionate short stature Atrioventricular canal defect Short thorax Thoracic hypoplasia Emphysema Hypoplastic toenails Cubitus valgus Abnormality of pelvic girdle bone morphology Colpocephaly Midline skin dimples over anterior/posterior fontanelles Restlessness High hypermetropia Thin eyebrow Abnormality of the rib cage Small face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge Spastic diplegia Anteverted ears Cupped ear Chorioretinal coloboma Failure to thrive in infancy Poor suck Cachexia Abnormality of the ribs Prominent nose Triangular face Broad columella Macrodontia Hypermetropia Short nose Small for gestational age Abnormal cardiac septum morphology Abnormality of the liver Cleft lip Joint laxity Elevated hepatic transaminase Hypothyroidism Dilatation Edema Moderately short stature Cardiomyopathy Fatigue Hepatomegaly Anemia Abnormal hair laboratory examination Decreased head circumference Narrow foot Round ear Phimosis Bulbous nose Spastic paraplegia Hypotrichosis Depressed nasal ridge Dyslexia Double outlet right ventricle Abnormality of immune system physiology Obsessive-compulsive behavior Stridor Laryngomalacia Sleep apnea Stereotypy Gastrointestinal hemorrhage Anomalous pulmonary venous return Thick vermilion border Wide nose Smooth philtrum Poor speech High forehead Autism Prominent forehead Downslanted palpebral fissures Abdominal situs inversus Interrupted aortic arch Short philtrum Hyperreflexia Sparse hair Abnormality of the nervous system Thin upper lip vermilion Macrotia Pes cavus Cerebral atrophy Malar flattening Blindness Spasticity Abnormality of the pharynx Bilateral trilobed lungs Subependymal cysts Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Persistent left superior vena cava Anterior creases of earlobe Velopharyngeal insufficiency Urethral stenosis Total anomalous pulmonary venous return Dilated cardiomyopathy Malabsorption Submucous cleft hard palate Areflexia Blepharophimosis Respiratory tract infection Aggressive behavior Polyhydramnios Hyperactivity Posteriorly rotated ears Cerebellar hypoplasia Inguinal hernia Kyphosis Muscular dystrophy Myopathy Hypoplasia of the corpus callosum Ventriculomegaly Motor delay Flexion contracture Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Camptodactyly of finger Arthrogryposis multiplex congenita Anasarca Radioulnar synostosis Absent septum pellucidum Abnormality of the sternum Decreased muscle mass Metatarsus adductus Mask-like facies Hypoplasia of the brainstem Myotonia Congenital contracture Pyloric stenosis Talipes Abnormality of the urinary system Multicystic kidney dysplasia Wide anterior fontanel Abnormality of the face Short palpebral fissure Interphalangeal joint contracture of finger Peripheral demyelination Bifid uvula Pulmonary hypoplasia Malrotation of small bowel Absent lacrimal punctum Hepatic failure Cholestasis Portal hypertension Oligodontia Widely spaced teeth Severe muscular hypotonia Hyperbilirubinemia Pointed chin Hypocalcemia Cafe-au-lait spot Sparse scalp hair Congenital sensorineural hearing impairment Hypoplasia of penis Convex nasal ridge Growth hormone deficiency Underdeveloped nasal alae Intestinal malrotation Generalized muscle weakness Abdominal distention Single transverse palmar crease Downturned corners of mouth Clitoral hypertrophy Steatorrhea Increased VLDL cholesterol concentration Abnormality of the pancreas Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Rectovaginal fistula Glycosuria Hypoproteinemia Abnormal hair pattern Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Anal stenosis Facial cleft Hypopituitarism Anteriorly placed anus Nephrogenic diabetes insipidus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Pheochromocytoma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more