Cognitive impairment, and Situs inversus totalis

Diseases related with Cognitive impairment and Situs inversus totalis

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


Top matches:

Medium 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

Medium match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Medium 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:

Medium match CONGENITAL SHORT BOWEL SYNDROME


Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL SHORT BOWEL SYNDROME

Medium match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Low 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

Low match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Low 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

Low 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

Low match JOUBERT SYNDROME WITH OCULAR DEFECT


Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

Top 5 symptoms//phenotypes associated to Cognitive impairment and Situs inversus totalis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cognitive impairment and Situs inversus totalis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Ataxia Foot polydactyly Muscular hypotonia Abnormality of cardiovascular system morphology Retinal degeneration Dextrocardia Aganglionic megacolon Short stature Micropenis Hydrocephalus Retinal dystrophy Visual loss Encephalocele Diabetes mellitus Scoliosis Ventricular septal defect Cryptorchidism Ptosis Apnea Iris coloboma Failure to thrive Microcephaly Generalized hypotonia Polymicrogyria Polydactyly Hypogonadism Brachydactyly Obesity Rod-cone dystrophy Postaxial polydactyly Neurological speech impairment

Rare Symptoms - Less than 30% cases


Glaucoma Asthma Steatorrhea Midface retrusion Stage 5 chronic kidney disease Amenorrhea Abnormality of the genitourinary system Epicanthus Renal insufficiency Intestinal malrotation Abdominal distention Narrow face Hepatic failure Myopia Visual impairment Depressed nasal bridge Displacement of the external urethral meatus Gastroesophageal reflux Diarrhea Delayed speech and language development Pyloric stenosis High palate Cleft palate Septate vagina Gait disturbance Calvarial skull defect Specific learning disability Aplasia cutis congenita of scalp Hydrometrocolpos Abdominal situs inversus Abnormal facial shape Cataract Hypotrichosis Malabsorption Tremor Oculomotor apraxia Cardiomyopathy Prominent nasal bridge Oral cleft Long face Anosmia Anomalous pulmonary venous return Total anomalous pulmonary venous return Alopecia Biparietal narrowing Hand polydactyly Hypospadias Abnormal heart morphology Atrial septal defect Intellectual disability, severe Highly arched eyebrow Cone/cone-rod dystrophy Cerebellar vermis hypoplasia Hypertension External genital hypoplasia Anemia Abnormal cardiac septum morphology Low-set ears Abnormality of the hypothalamus-pituitary axis Hydronephrosis Undetectable electroretinogram Abnormal pattern of respiration Growth delay Anteverted nares Sensorineural hearing impairment Progressive peripheral neuropathy Megaloblastic anemia Hypertelorism Micrognathia Paroxysmal atrial tachycardia Thiamine-responsive megaloblastic anemia Feeding difficulties in infancy Abnormality of the basal ganglia Sideroblastic anemia Thrombocytopenia Myelodysplasia Abnormal form of the vertebral bodies Aciduria Arrhythmia Congestive heart failure Hypoglycemia Pallor Stroke Optic atrophy Episodic tachypnea Lethargy Paresthesia Polyneuropathy Neutropenia Abnormality of the skin Macrocytic anemia Abnormality of neuronal migration Bilateral sensorineural hearing impairment Pancytopenia Anorexia Cardiac arrest Hoarse voice Aminoaciduria Polycystic ovaries Aplasia/Hypoplasia of the corpus callosum Headache Hyperglycemia Secondary amenorrhea Downslanted palpebral fissures Mesoaxial polydactyly Behavioral abnormality Postaxial hand polydactyly Clubbing Bicuspid aortic valve Hepatic fibrosis Dental crowding Left ventricular hypertrophy Abnormality of the genital system Primary amenorrhea Pigmentary retinopathy Tricuspid regurgitation Decreased testicular size Hypodontia Short foot High, narrow palate Hirsutism Astigmatism Paraplegia Radial deviation of finger Hypoplasia of the uterus Retinopathy Microphallus Molar tooth sign on MRI Abnormal vertebral morphology Low-set, posteriorly rotated ears Agenesis of corpus callosum Feeding difficulties Nephrogenic diabetes insipidus Biliary tract abnormality Tapetoretinal degeneration Macular dystrophy Menstrual irregularities Vaginal atresia Abnormality of the ovary Gait imbalance Broad foot Poor coordination Nephronophthisis Truncal obesity Pulmonic stenosis Coloboma Prominent forehead Wide nose Nasal speech Laryngomalacia Sleep apnea Stereotypy Depressed nasal ridge Tetralogy of Fallot Thick vermilion border Smooth philtrum Obsessive-compulsive behavior Poor speech Attention deficit hyperactivity disorder Abnormality of the pinna Anxiety High forehead Mandibular prognathia Autism Stridor Hypoplastic left heart Abnormality of the kidney Common atrium Reduced visual acuity Syndactyly Macrocephaly Bilateral trilobed lungs Subependymal cysts Aplasia/Hypoplasia of the thymus Persistent left superior vena cava Anterior creases of earlobe Transposition of the great arteries Velopharyngeal insufficiency Urethral stenosis Abnormality of the pharynx Interrupted aortic arch Heterotaxy Dyslexia Double outlet right ventricle Abnormality of immune system physiology Gastrointestinal hemorrhage Chorioretinal atrophy Brachycephaly Hydroureter Hypoplasia of penis Sparse scalp hair Cholestasis Cafe-au-lait spot Abnormality of the nail Hypocalcemia Pointed chin Hyperbilirubinemia Severe muscular hypotonia Widely spaced teeth Oligodontia Portal hypertension Clitoral hypertrophy Congenital sensorineural hearing impairment Agenesis of permanent teeth Convex nasal ridge Abnormal hair pattern Skin dimples Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Rectovaginal fistula Hypoproteinemia Fair hair Glycosuria Exocrine pancreatic insufficiency Anal stenosis Facial cleft Hypoplastic nipples Hypopituitarism Anteriorly placed anus Microdontia Growth hormone deficiency Uterus didelphys Fatigue Delayed skeletal maturation Dilatation Long philtrum Short nose Abnormality of the dentition Edema Intrauterine growth retardation Severe short stature Hepatomegaly Polydipsia Polyuria Postaxial foot polydactyly Hyposmia Bilateral postaxial polydactyly Clinodactyly of the 5th finger Upslanted palpebral fissure Underdeveloped nasal alae Dilated cardiomyopathy Generalized muscle weakness Hypoplasia of the maxilla Delayed eruption of teeth Single transverse palmar crease Downturned corners of mouth Anal atresia Small for gestational age Renal cyst Abnormality of the liver Postnatal growth retardation Cleft lip Joint laxity Elevated hepatic transaminase Hypothyroidism Frontal upsweep of hair Abnormality of the nares Cephalocele Occipital encephalocele Retinal detachment Vesicoureteral reflux Progressive visual loss High myopia Thin skin Pachygyria Abnormality of the hair Horizontal nystagmus Macular degeneration Corneal dystrophy Ectopia lentis Cortical dysplasia Y-shaped metacarpals Absent septum pellucidum Aplasia cutis congenita Joint hyperflexibility Phthisis bulbi Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Lymphangioma Acute lymphoblastic leukemia Band keratopathy Lens luxation Macular hypoplasia Large forehead Vitreoretinopathy Meningocele Bulbous nose Congenital cataract Colonic diverticula Midline skin dimples over anterior/posterior fontanelles Malnutrition Hemivertebrae Increased body weight Chronic diarrhea Sepsis Vomiting Hypoplasia of the primary teeth Volvulus Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Absent lacrimal punctum Increased VLDL cholesterol concentration Lipoatrophy Gastroparesis Leukemia Blindness Nyctalopia Mental deterioration Retrognathia Patent ductus arteriosus Cerebral atrophy Cerebellar atrophy Ventriculomegaly Absent hand Motor delay Renal dysplasia Abnormal peristalsis Decreased intestinal transit time Intestinal hypoplasia Congenital shortened small intestine Retinal coloboma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Gait ataxia, related diseases and genetic alterations Cleft palate and Broad forehead, related diseases and genetic alterations Nystagmus and Hypertrophic cardiomyopathy, related diseases and genetic alterations Abnormal facial shape and Flat face, related diseases and genetic alterations Microcephaly and Rod-cone dystrophy, related diseases and genetic alterations Global developmental delay and Pain, related diseases and genetic alterations Seizures and Hepatomegaly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more