Intellectual disability, severe, and Cerebellar vermis hypoplasia

Diseases related with Intellectual disability, severe and Cerebellar vermis hypoplasia

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE; MCPH14

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

Other less relevant matches:

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

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Cerebellar vermis hypoplasia

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Absent speech Poor speech Cerebellar hypoplasia Ventriculomegaly Strabismus Molar tooth sign on MRI Intellectual disability, profound Spasticity Focal-onset seizure Agenesis of corpus callosum Muscular hypotonia Dilatation Dandy-Walker malformation Hypertonia Hypoplasia of the corpus callosum Macrocephaly

Rare Symptoms - Less than 30% cases

Abnormal cerebellum morphology Apraxia Coloboma Delayed speech and language development Oculomotor apraxia Hyperactivity Micropenis Nephronophthisis Protruding ear Sensorineural hearing impairment Attention deficit hyperactivity disorder Cerebral atrophy Retinal dystrophy Poor eye contact Intellectual disability, moderate Agyria Hydrocephalus Intellectual disability, mild Congenital microcephaly Cryptorchidism Aplasia/Hypoplasia of the corpus callosum Progressive neurologic deterioration Lissencephaly Polymicrogyria Blindness Neonatal hypotonia Hypoplasia of dental enamel Short philtrum Broad thumb Neurological speech impairment Dysmetria Prominent nose Long face Triangular face Hypotelorism Intention tremor Scrotal hypoplasia Hypsarrhythmia Deeply set eye Prominent supraorbital ridges Thin upper lip vermilion Abnormality of dental color Tremor Abnormal facial shape Nystagmus Yellow-brown discoloration of the teeth Frontal bossing Prominent forehead Amelogenesis imperfecta Cognitive impairment Coarse hair Cerebral cortical atrophy Abnormality of dental enamel Hypohidrosis Gait ataxia Autism Mandibular prognathia Macrotia Recurrent respiratory infections Focal impaired awareness seizure Retinopathy Stereotypy Limb ataxia Poor coordination Impaired social interactions Happy demeanor Hypertelorism Hypospadias Inguinal hernia Polydactyly Postaxial polydactyly Esotropia Postaxial hand polydactyly Sloping forehead Ambiguous genitalia Congenital diaphragmatic hernia Tall stature Wide anterior fontanel Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Prominent occiput Broad-based gait Generalized muscle weakness External genital hypoplasia Dysphagia Long nose Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Infra-orbital crease Disorganization of the anterior cerebellar vermis Dysarthria Skeletal muscle atrophy Talipes equinovarus Inability to walk Hyporeflexia Smooth philtrum Difficulty walking Abnormality of the nervous system Respiratory tract infection Hypermetropia Talipes Anal atresia Bulbous nose Epileptic encephalopathy Highly arched eyebrow Severe global developmental delay Cleft palate Abnormal retinal morphology Breathing dysregulation Bile duct proliferation Hyperechogenic kidneys Elongated superior cerebellar peduncle Enlarged fossa interpeduncularis Thickened superior cerebellar peduncle Hearing impairment Wide nasal bridge Severe muscular hypotonia Atrial septal defect Short nose Broad nasal tip Brain atrophy Aganglionic megacolon Absence seizures Tented upper lip vermilion Elevated alkaline phosphatase Chorioretinal coloboma Hepatic fibrosis Mild microcephaly Heterotopia Aggressive behavior Feeding difficulties Muscular hypotonia of the trunk Abnormal pyramidal sign Tetraplegia Spastic tetraplegia Hemiparesis Pachygyria Cerebral visual impairment Retinal degeneration Hypoplasia of the brainstem Abnormality of neuronal migration Cortical dysplasia Cerebellar dysplasia Hemianopia Esodeviation Abnormality of the eye Abnormality of eye movement Stage 5 chronic kidney disease Hyperphosphatemia Cataract Developmental regression Limb hypertonia Hirsutism Everted lower lip vermilion Narrow forehead Thick lower lip vermilion Long eyelashes Low anterior hairline Partial agenesis of the corpus callosum Palpebral edema Nonprogressive cerebellar ataxia Sparse hair Upper eyelid edema Short stature Failure to thrive Encephalopathy Dementia Upslanted palpebral fissure EEG abnormality Mental deterioration Thick eyebrow Low-set, posteriorly rotated ears Myopia Cerebral calcification Myopathy Microphthalmia Elevated serum creatine phosphokinase Glaucoma Respiratory failure Corneal opacity Muscular dystrophy Abnormality of the cerebral white matter High myopia Posteriorly rotated ears Leukodystrophy Holoprosencephaly Poor head control Congenital muscular dystrophy Buphthalmos Cerebellar cyst Growth delay Low-set ears Anteverted nares Abnormality of the clavicle


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