Intellectual disability, severe, and Ventriculomegaly

Diseases related with Intellectual disability, severe and Ventriculomegaly

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

Top matches:

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about BAND HETEROTOPIA; BH

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15

Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

Other less relevant matches:

Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006).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
  • Muscular hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 6; JBTS6

Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

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, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. 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 Geis et al., 2013 and Riemersma et al., 2015).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, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Polymicrogyria Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Motor delay

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Absent speech Hypoplasia of the corpus callosum Cerebellar hypoplasia Ataxia Dilatation Hydrocephalus Macrocephaly Hypoplasia of the brainstem Intellectual disability, moderate Blindness Cerebellar vermis hypoplasia Agenesis of corpus callosum Lissencephaly

Rare Symptoms - Less than 30% cases

Cortical dysplasia Hypertonia Abnormal pyramidal sign Muscular dystrophy Muscular hypotonia Cortical gyral simplification Agyria Hyperactivity Strabismus Heterotopia Intellectual disability, mild Hearing impairment Neoplasm Progressive microcephaly Pachygyria Intellectual disability, profound Behavioral abnormality Hyperreflexia Congenital muscular dystrophy Short stature Severe muscular hypotonia Nephronophthisis Abnormal retinal morphology Breathing dysregulation Molar tooth sign on MRI Chorioretinal coloboma Coloboma Oculomotor apraxia Congenital microcephaly Focal-onset seizure Spastic tetraplegia Hemiparesis Cerebral visual impairment Abnormality of neuronal migration Cerebellar dysplasia Hemianopia Esodeviation Hepatic fibrosis Abnormality of the eye Hyperechogenic kidneys Abnormality of eye movement Buphthalmos Stage 5 chronic kidney disease Retinal degeneration Apraxia Bile duct proliferation Holoprosencephaly Elongated superior cerebellar peduncle Mild microcephaly Leukodystrophy High myopia Poor head control Cerebral calcification Retinal dystrophy Abnormality of the cerebral white matter Corneal opacity Respiratory failure Glaucoma Elevated serum creatine phosphokinase Microphthalmia Myopathy Myopia Cataract Hyperphosphatemia Enlarged fossa interpeduncularis Poor speech Thickened superior cerebellar peduncle Sensorineural hearing impairment Cleft palate Wide nasal bridge Atrial septal defect Cerebral atrophy Tetraplegia Elevated alkaline phosphatase Broad nasal tip Brain atrophy Dandy-Walker malformation Aganglionic megacolon Absence seizures Tented upper lip vermilion Short nose Communicating hydrocephalus Muscular hypotonia of the trunk Neurological speech impairment Abnormal cerebellum morphology Dysmetria Babinski sign Nystagmus Unilateral polymicrogyria Thick corpus callosum Small cerebral cortex Hypoplasia of the frontal lobes Prominent glabella Partial agenesis of the corpus callosum Narrow forehead Sloping forehead Highly arched eyebrow Attention deficit hyperactivity disorder Broad-based gait Proptosis Delayed speech and language development Growth delay Cerebral white matter hypoplasia Spastic tetraparesis Spastic gait Tetraparesis Inability to walk Upslanted palpebral fissure Talipes equinovarus Profound global developmental delay Sleep disturbance Abnormality of the skeletal system Spasticity Esotropia Exotropia Feeding difficulties Aqueductal stenosis Epileptic encephalopathy Febrile seizures Polyneuropathy Gait ataxia Hyporeflexia Encephalopathy Immunodeficiency Cerebellar atrophy Skeletal muscle atrophy Peripheral neuropathy Normal pressure hydrocephalus Intraventricular hemorrhage Hydranencephaly Dilated fourth ventricle Arnold-Chiari malformation Truncal ataxia Spontaneous abortion Stroke Irritability Mental deterioration Prominent forehead Headache Vomiting Polymicrogyria, anterior to posterior gradient Frontoparietal polymicrogyria Cerebral dysmyelination Perisylvian polymicrogyria Nonprogressive cerebellar ataxia Type II lissencephaly Ankle clonus Cerebellar cyst


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Dehydration, related diseases and genetic alterations