Delayed speech and language development, and Cerebellar vermis hypoplasia

Diseases related with Delayed speech and language development and Cerebellar vermis hypoplasia

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Cerebellar vermis hypoplasia that can help you solving undiagnosed cases.


Top matches:

Medium match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ventriculomegaly


SOURCES: UMLS OMIM MONDO DOID

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

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13

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.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 Is also known as ;autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; autosomal recessive spinocerebellar ataxia type 13; scar13

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO OMIM UMLS ORPHANET DOID

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13

Medium match PORETTI-BOLTSHAUSER SYNDROME; PTBHS

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

PORETTI-BOLTSHAUSER SYNDROME; PTBHS Is also known as ;poretti-boltshauser syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MONDO UMLS ORPHANET OMIM

More info about PORETTI-BOLTSHAUSER SYNDROME; PTBHS

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Other less relevant matches:

Medium match CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND

Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination (summary by Huppke et al., 2012).

CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND Is also known as ;congenital cataract-deafness-severe developmental delay syndrome; lethal neurodegenerative disorder due to copper transport defect

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: UMLS MONDO OMIM ORPHANET

More info about CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND

Medium match CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Is also known as ;

Related symptoms:

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


SOURCES: GARD OMIM ORPHANET UMLS MESH MONDO

More info about CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED

Medium match LISSENCEPHALY 3; LIS3

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET MONDO MESH NCIT OMIM

More info about LISSENCEPHALY 3; LIS3

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17 Is also known as ;scar17; spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: DOID UMLS ORPHANET MONDO OMIM

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17

Medium match ATAXIA-TELANGIECTASIA-LIKE DISORDER

ATAXIA-TELANGIECTASIA-LIKE DISORDER Is also known as atld

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Dysarthria


SOURCES: UMLS ORPHANET

More info about ATAXIA-TELANGIECTASIA-LIKE DISORDER

Medium match CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA

CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA Is also known as birk-flusser syndrome;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET MONDO UMLS OMIM

More info about CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA

Medium match KOHLSCHUTTER-TONZ SYNDROME; KTZS

Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012 and Mory et al., 2012).

KOHLSCHUTTER-TONZ SYNDROME; KTZS Is also known as epilepsy and yellow teeth, epilepsy, dementia, and amelogenesis imperfecta, kohlschutter syndrome;epilepsy-dementia-amelogenesis imperfecta syndrome; kohlschutter-tonz syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH OMIM GARD SCTID MONDO ORPHANET UMLS

More info about KOHLSCHUTTER-TONZ SYNDROME; KTZS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Cerebellar vermis hypoplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Cerebellar vermis hypoplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Autosomal recessive inheritance

Uncommon Symptoms - Between 30% and 50% cases


Seizures Motor delay Microcephaly Cerebellar hypoplasia Agenesis of corpus callosum Cerebellar atrophy Ventriculomegaly Gait ataxia Infantile onset Dysmetria Dysarthria Oculomotor apraxia Nystagmus Short stature Intellectual disability, severe Severe global developmental delay Strabismus

Rare Symptoms - Less than 30% cases


Focal seizures Apraxia Muscle weakness Autosomal dominant inheritance Heterotopia Cerebellar dysplasia Dilated fourth ventricle Hydrocephalus Hypertonia Cerebral atrophy Partial agenesis of the corpus callosum Inferior vermis hypoplasia Congenital microcephaly Spasticity Thick eyebrow Tremor Dystonia Abnormal pyramidal sign Slow progression Intention tremor Nonprogressive cerebellar ataxia Cortical dysplasia Hypoplasia of the brainstem Horizontal nystagmus Dysdiadochokinesis Hypsarrhythmia Cerebellar cyst Frequent falls Hypoplasia of the corpus callosum Hyperreflexia Vertical nystagmus Orofacial dyskinesia Abnormality of ocular smooth pursuit Dysmetric saccades Slow saccadic eye movements Slurred speech Small posterior fossa Nonprogressive Abnormality of the distal phalanx of the thumb Absent Achilles reflex Gaze-evoked nystagmus Hyperactive deep tendon reflexes Mask-like facies Drooling Reduced tendon reflexes Sensorimotor neuropathy Hypergonadotropic hypogonadism Thoracic hemivertebrae Monotonic speech Chorea Joint laxity Myoclonus Pes cavus Mild microcephaly Narrow forehead Enlarged interhemispheric fissure Broad thumb Encephalopathy Upslanted palpebral fissure Dementia EEG abnormality Mental deterioration Developmental regression Smooth philtrum Epileptic encephalopathy Upper eyelid edema Progressive neurologic deterioration Hypoplasia of dental enamel Hypohidrosis Abnormality of dental enamel Coarse hair Amelogenesis imperfecta Abnormality of dental color Failure to thrive Limb hypertonia Growth delay Highly arched eyebrow Low-set ears Anteverted nares Posteriorly rotated ears Protruding ear Low-set, posteriorly rotated ears Sparse hair Everted lower lip vermilion Hirsutism Palpebral edema Poor speech Abnormal cerebellum morphology Thick lower lip vermilion Hemivertebrae Low anterior hairline Long eyelashes Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Dilatation Truncal ataxia Abnormality of ocular abduction Cataract Hearing impairment Retinal thinning Abnormally large globe Abnormality of the periventricular white matter Retinal atrophy Amblyopia High myopia Retinal dystrophy Abnormality of eye movement Abnormality of the cerebral white matter Elevated serum creatine phosphokinase Myopia Functional motor deficit Congenital cataract Retrocerebellar cyst Gaze-evoked horizontal nystagmus Difficulty standing Limb dysmetria Hypometric saccades Esotropia Polyneuropathy Neurological speech impairment Pes planus Ptosis Multifocal epileptiform discharges Infantile spasms Cortical gyral simplification Arrhythmia Progressive Neutropenia Clumsiness Spastic tetraplegia Falls Unsteady gait Abnormality of movement Synophrys Intellectual disability, moderate Babinski sign Esodeviation Hemianopia Abnormality of neuronal migration Lissencephaly Hemiparesis Intellectual disability, profound Pachygyria Cortical visual impairment Tetraplegia CNS hypomyelination Polymicrogyria Muscular hypotonia of the trunk Blindness Feeding difficulties Dislocated radial head Adducted thumb Aganglionic megacolon X-linked inheritance X-linked recessive inheritance Intellectual disability, mild Abnormal facial shape Decreased serum ceruloplasmin Hypocupremia Rotary nystagmus Yellow-brown discoloration of the teeth



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