Intellectual disability, and Bifid uvula

Diseases related with Intellectual disability and Bifid uvula

In the following list you will find some of the most common rare diseases related to Intellectual disability and Bifid uvula that can help you solving undiagnosed cases.


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

High match JOUBERT SYNDROME 30; JBTS30


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 30; JBTS30

High match OROFACIODIGITAL SYNDROME TYPE 5


Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

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Other less relevant matches:

High match CONOTRUNCAL HEART MALFORMATIONS; CTHM


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

High match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

High match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

High match VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1


VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

High match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7


Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

High match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

High match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Top 5 symptoms//phenotypes associated to Intellectual disability and Bifid uvula

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Submucous cleft hard palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Intellectual disability and Bifid uvula. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Seizures Postaxial polydactyly Intellectual disability, mild Micrognathia Generalized hypotonia Microcephaly Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Epicanthus Sensorineural hearing impairment Cleft lip Malar flattening Midface retrusion Abnormal heart morphology Low-set ears Ventricular septal defect Hypertelorism Scoliosis Agenesis of corpus callosum Anemia Short nose Anteverted nares Strabismus Syndactyly Flat occiput Polydactyly Ptosis Heterotopia Cyclopia Chronic constipation Exotropia Holoprosencephaly Diabetes insipidus Narrow nasal bridge Adrenal hypoplasia Single median maxillary incisor Median cleft lip and palate Microcornea Flexion contracture Cryptorchidism Muscular hypotonia of the trunk 2-3 toe syndactyly Laryngeal web Hypotelorism Astigmatism Cortical dysplasia Hypoplasia of the corpus callosum Nystagmus Muscular hypotonia Cataract Macrocephaly Microphthalmia Absent speech Deeply set eye Coloboma Constipation Cerebellar hypoplasia Optic atrophy Toe syndactyly Myopia Abnormality of neuronal migration Polymicrogyria Growth delay Single ventricle Hyperinsulinemic hypoglycemia Hepatitis Cardiac arrest Hypogonadotrophic hypogonadism Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Malignant hyperthermia Pierre-Robin sequence Small face Muscle cramps Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Chest pain Hepatic steatosis Proboscis Cardiomyopathy Hypoplastic philtrum Absent nasal septal cartilage Aplasia of the nose Anterior pituitary agenesis Laryngotracheomalacia Muscle weakness Fever Fatigue Elevated serum creatine phosphokinase Tachycardia Prominent forehead Hypogonadism Hypothyroidism Dyspnea Hypoglycemia Elevated hepatic transaminase Abnormality of the liver Dilated cardiomyopathy Delayed puberty Hypoplastic sacrum Macrocytic anemia Absence of the sacrum Coarctation of aorta Lobulated tongue Abnormality of cardiovascular system morphology Abnormality of metabolism/homeostasis Severe short stature Narrow mouth Abnormal cardiac septum morphology Tetralogy of Fallot Short palpebral fissure Median cleft lip Hypocalcemia Nasal speech Broad hallux Transposition of the great arteries Hypoparathyroidism Double outlet right ventricle Truncus arteriosus Maternal diabetes Postaxial foot polydactyly Horseshoe kidney Complete atrioventricular canal defect Abnormality of eye movement Cognitive impairment Long philtrum Pes planus Thin vermilion border Abnormally large globe Delayed speech and language development Apnea Abnormality of the eye Retinal dystrophy Aganglionic megacolon Dandy-Walker malformation Tachypnea Optic nerve hypoplasia Molar tooth sign on MRI Hypopituitarism Frontal bossing Cleft upper lip Postaxial hand polydactyly Pulmonary artery atresia Aortopulmonary window Spinal dysraphism Atrial septal defect Sparse and thin eyebrow Sparse eyebrow Mixed hearing impairment Severe sensorineural hearing impairment Broad neck Granulocytopenia Mandibulofacial dysostosis Talipes Webbed neck Renal hypoplasia Aortic valve stenosis Hypoplastic left heart Tracheomalacia Lipoma Mitral stenosis Tethered cord Butterfly vertebrae Congenital diaphragmatic hernia Microtia Anomalous origin of one pulmonary artery from ascending aorta Highly arched eyebrow High palate Motor delay Brachycephaly Autism Conductive hearing impairment Abnormality of the pinna Autistic behavior Thick eyebrow Single transverse palmar crease Posteriorly rotated ears Long eyelashes Brittle hair Increased number of teeth Bilateral conductive hearing impairment Feeding difficulties Downslanted palpebral fissures Respiratory distress Hernia Abnormal protein glycosylation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Dilated cardiomyopathy, related diseases and genetic alterations Congestive heart failure and Low posterior hairline, related diseases and genetic alterations Depressed nasal bridge and Postaxial polydactyly, related diseases and genetic alterations Cardiomyopathy and Hypospadias, related diseases and genetic alterations Spasticity and Babinski sign, related diseases and genetic alterations Nystagmus and Pes cavus, related diseases and genetic alterations

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