Generalized hypotonia, and Ventriculomegaly

Diseases related with Generalized hypotonia and Ventriculomegaly

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia
  • Ventriculomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 31; JBTS31

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 phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Manzini 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, 8; MDDGA8 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ventriculomegaly
  • Hydrocephalus


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5

Medium match B4GALT1-CDG

B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

B4GALT1-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iid|beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|cdg2d|cdg iid|congenital disorder of glycosylation type iid|cdgiid|cdg-iid|cdg syndrome type iid

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about B4GALT1-CDG

Medium match BAND HETEROTOPIA; BH

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
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59

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 congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Ventriculomegaly

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

Other less frequent symptoms

Patients with Generalized hypotonia and Ventriculomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Hydrocephalus Ataxia Intellectual disability, profound

Rare Symptoms - Less than 30% cases

Cerebellar hypoplasia Macrocephaly Sleep disturbance Hypsarrhythmia Muscular hypotonia Hypoplasia of the brainstem Abnormality of eye movement Strabismus Cerebral atrophy Intellectual disability, severe Hyperreflexia Infantile spasms Inability to walk Microcephaly Spastic gait Tetraparesis Progressive microcephaly Spastic tetraparesis Upslanted palpebral fissure Self-injurious behavior Talipes equinovarus Poor eye contact Focal impaired awareness seizure Mutism Drooling Epileptic encephalopathy Focal-onset seizure Cerebral white matter hypoplasia Inferior vermis hypoplasia Short stature Polyneuropathy Functional motor deficit Limb dysmetria Gaze-evoked horizontal nystagmus Difficulty standing Hypometric saccades Dysdiadochokinesis Horizontal nystagmus Esotropia Dysmetria Ptosis Neurological speech impairment Abnormal pyramidal sign Pes planus Gait ataxia Aggressive behavior Cerebellar atrophy Retrocerebellar cyst Tremor Dysarthria Autistic behavior Agenesis of corpus callosum Autism Oculomotor apraxia Type II lissencephaly Retinal dysplasia Congenital muscular dystrophy Lissencephaly Muscular dystrophy Microphthalmia Molar tooth sign on MRI Truncal ataxia Cortical dysplasia Cognitive impairment Cerebral palsy Spastic tetraplegia Brain atrophy Tetraplegia Neurodegeneration Neonatal hypotonia Cerebellar vermis hypoplasia Cortical gyral simplification Scoliosis Behavioral abnormality Appendicular hypotonia Arachnoid cyst Coarse facial features Failure to thrive Profound global developmental delay Heterotopia Polymicrogyria Abnormality of the skeletal system Multifocal epileptiform discharges Spasticity Stroke-like episode Abnormality of coagulation Abnormality of the coagulation cascade Dandy-Walker malformation Stroke Elevated serum creatine phosphokinase Myopathy Abnormality of ocular abduction


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Cone/cone-rod dystrophy, related diseases and genetic alterations Hepatomegaly and Facial asymmetry, related diseases and genetic alterations Micrognathia and Blue sclerae, related diseases and genetic alterations Hypertelorism and Glioma, related diseases and genetic alterations Muscular hypotonia and Pectus excavatum, related diseases and genetic alterations