Intellectual disability, severe, and Encephalocele

Diseases related with Intellectual disability, severe and Encephalocele

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

Top matches:

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

Other less relevant matches:

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10 Is also known as walker-warburg syndrome or muscle-eye-brain disease, tmem5-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cataract
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Encephalocele

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hydrocephalus Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Cerebellar vermis hypoplasia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Cataract

Common Symptoms - More than 50% cases

Pachygyria

Uncommon Symptoms - Between 30% and 50% cases

Congenital cataract

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Coloboma

Common Symptoms - More than 50% cases

Microphthalmia

Uncommon Symptoms - Between 30% and 50% cases

Dilatation

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Visual impairment

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Hypoplasia of the brainstem Congenital muscular dystrophy Lissencephaly Retinal dystrophy Cerebellar hypoplasia Agenesis of corpus callosum Strabismus Muscular dystrophy Type II lissencephaly Cerebellar dysplasia Molar tooth sign on MRI Buphthalmos Retinal dysplasia Abnormality of the eye Macrocephaly Occipital encephalocele Cerebellar cyst Hypertelorism Abnormality of neuronal migration Scoliosis Glaucoma Elevated serum creatine phosphokinase Abnormality of the cerebral white matter Myopia Muscle weakness Polymicrogyria Microcephaly Intellectual disability, profound Myopathy Renal cyst Aplasia/Hypoplasia of the cerebellar vermis Prominent nasal bridge Abnormality of eye movement Highly arched eyebrow Hypoglycosylation of alpha-dystroglycan Abnormality of the kidney Optic atrophy Flexion contracture Gait disturbance Iris coloboma Hepatomegaly Blindness Neonatal hypotonia Severe muscular hypotonia Apnea Ataxia Hypermetropia Heterotopia Congenital glaucoma Low-set ears Ptosis Retinal atrophy Hepatic fibrosis

Rare Symptoms - Less than 30% cases

Postaxial hand polydactyly Holoprosencephaly EMG abnormality Abnormality of the hypothalamus-pituitary axis Generalized muscle weakness Severe global developmental delay EEG abnormality Hypoplasia of the corpus callosum Optic nerve hypoplasia Multicystic kidney dysplasia Chorioretinal coloboma Spasticity Nephronophthisis Decreased light- and dark-adapted electroretinogram amplitude Severe vision loss Congenital blindness Congenital hepatic fibrosis Megalocornea Aplasia/Hypoplasia of the cerebellum Biparietal narrowing Renal insufficiency Anteverted nares Agyria Retinal detachment Wide mouth Oral cleft Abnormality of the liver Areflexia Stage 5 chronic kidney disease Cortical dysplasia Multiple small medullary renal cysts Hemiplegia/hemiparesis Skeletal muscle atrophy Intrauterine growth retardation Long face Atrophy/Degeneration affecting the brainstem Nephropathy Intellectual disability, moderate Hepatosplenomegaly Frontal bossing Undetectable electroretinogram Abnormal facial shape Cleft lip Rod-cone dystrophy Tremor Respiratory insufficiency Meningocele Hypertension Short philtrum Polydactyly Posteriorly rotated ears Retinopathy Cleft upper lip Congenital contracture Skeletal muscle hypertrophy Spinal rigidity Hypoplasia of the pons Peters anomaly Malar flattening Downslanted palpebral fissures Cleft palate Dandy-Walker malformation Retinal degeneration Brainstem dysplasia Agenesis of cerebellar vermis Cholestatic liver disease Esophageal varix Dilated fourth ventricle Tubulointerstitial fibrosis Renal corticomedullary cysts Neoplasm of the liver Occipital meningocele Gastrointestinal hemorrhage Tubular atrophy Renal sodium wasting Delayed speech and language development Motor delay Respiratory distress Atrial septal defect Pectus excavatum Brachycephaly Rigidity Macroglossia Foot polydactyly Postaxial foot polydactyly Abnormality of the periventricular white matter Gonadal dysgenesis Moderate myopia Large for gestational age Hepatic steatosis Persistent pupillary membrane Broad-based gait Aganglionic megacolon Astigmatism Intellectual disability, progressive Abnormality of the pinna Tachypnea Polycystic kidney dysplasia Hand polydactyly Polydipsia Intrahepatic biliary atresia Polyuria Chronic hepatic failure Abnormal pattern of respiration Optic nerve coloboma Hip dislocation Camptodactyly of finger Hypoplasia of the pyramidal tract Oculomotor apraxia Anencephaly Ankle contracture Cholestasis Myocardial fibrosis Exaggerated startle response Thoracic hemivertebrae Cephalocele Hyperreflexia Transposition of the great arteries Splenomegaly Inguinal hernia Elevated hepatic transaminase Abnormality of the nervous system Apraxia Feeding difficulties in infancy Cirrhosis Round face Weak cry Generalized amyotrophy Intestinal malrotation Bradycardia Dilated cardiomyopathy Dolichocephaly Arthrogryposis multiplex congenita Pulmonic stenosis Abnormal cerebellum morphology Brain atrophy Preauricular skin tag Abnormality of abdomen morphology Portal hypertension Multiple joint contractures Congenital hip dislocation Hemivertebrae Knee flexion contracture Plagiocephaly Mask-like facies Increased variability in muscle fiber diameter Calf muscle hypertrophy Chronic kidney disease Abnormal electroretinogram Dyspnea Epicanthus Sensorineural hearing impairment Pallor Neurological speech impairment Abnormality of movement Everted lower lip vermilion Visual loss High myopia Abnormality of the skeletal system Opacification of the corneal stroma Infantile muscular hypotonia Abnormality of the voice Myoclonus Hearing impairment Morning glory anomaly Breathing dysregulation Multiple renal cysts Tented upper lip vermilion Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Enlarged flash visual evoked potentials Mandibular prognathia Coarse facial features Open mouth Pigmentary retinopathy Low anterior hairline High hypermetropia Keratoconus Hyperactive deep tendon reflexes Abnormality of retinal pigmentation Exotropia Pendular nystagmus Narrow forehead Abnormality of the optic disc Talipes equinovalgus Midface retrusion Fundus atrophy Eye poking Hyperthreoninuria Hyperthreoninemia Micrognathia Cognitive impairment Talipes Photophobia Thin upper lip vermilion Hypertonia Cryptorchidism Postaxial polydactyly Autistic behavior Hypoplastic male external genitalia Posterior fossa cyst Meningoencephalocele Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Metatarsus valgus Severe hydrocephalus Macrogyria Abnormal lactate dehydrogenase activity Chorioretinal dysplasia Aplasia/Hypoplasia involving the skeletal musculature Excessive daytime sleepiness Thick cerebral cortex Abnormal aldolase level Anemia Pneumonia Behavioral abnormality Absent speech Abnormality of cardiovascular system morphology Cone/cone-rod dystrophy Low-set, posteriorly rotated ears Remnants of the hyaloid vascular system Muscle fiber splitting Irritability Microcornea Hyporeflexia Proptosis Hydronephrosis Protruding ear Microtia Corneal opacity Anal atresia Deeply set eye High forehead Bifid uvula Aqueductal stenosis Specific learning disability Hypoplasia of penis Renal dysplasia Atresia of the external auditory canal Anophthalmia Absent septum pellucidum Submucous cleft hard palate Bilateral cleft lip Abnormal cortical gyration Abnormality of the optic nerve Facial cleft


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