Global developmental delay, and Apraxia

Diseases related with Global developmental delay and Apraxia

In the following list you will find some of the most common rare diseases related to Global developmental delay and Apraxia that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 27; JBTS27

Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by Srour et al., 2015)For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cerebellar hypoplasia
  • Apraxia


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 25; JBTS25

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 28; JBTS28

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 31; JBTS31

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Cognitive impairment
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 17; JBTS17

Speech-language disorder-1 is an autosomal dominant disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals were originally thought to have specific defects in the use of grammatical suffixation rules (Gopnik, 1990; Gopnik and Crago, 1991). The phenotype, however, is broader in nature, with virtually every aspect of grammar and language affected (Fisher et al., 1998). Vargha-Khadem et al. (1998) concluded that the disorder is characterized by abnormal development of several brain areas critical for both orofacial movements and sequential articulation, resulting in marked disruption of speech and expressive language. Relation to Specific Language ImpairmentChildren who fail to develop expressive and/or receptive language normally, in the absence of explanatory factors such as neurologic disorders, hearing impairment, or lack of adequate opportunity, are clinically described as having specific language impairment (SLI; see {606711}) (Bartlett et al., 2002).See also familial developmental dysphasia (OMIM ).

CHILDHOOD APRAXIA OF SPEECH Is also known as speech-language disorder type 1|dvd|cas|developmental verbal dyspraxia|speech and language disorder with orofacial dyspraxia|childhood apraxia of speech

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Neoplasm
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHILDHOOD APRAXIA OF SPEECH

AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Dysarthria
  • Intellectual disability, mild
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca|aplasia of cerebellar vermis|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|sca29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|acv

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 29

Related symptoms:

  • Global developmental delay
  • Respiratory insufficiency
  • Syndactyly
  • Absent speech
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 20; JBTS20

Top 5 symptoms//phenotypes associated to Global developmental delay and Apraxia

Symptoms // Phenotype % cases
Oculomotor apraxia Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Molar tooth sign on MRI Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Apraxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Cognitive impairment Abnormality of eye movement Truncal ataxia Delayed speech and language development Seizures Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases

Dysarthria Hyperreflexia Limb ataxia Absent speech Tremor Motor delay Poor speech Diffuse cerebellar atrophy Intellectual disability, mild Autism Polydactyly Postaxial polydactyly Strabismus Syndactyly Retinopathy Cerebellar atrophy Abnormality of phytanic acid metabolism Gait ataxia Dysmetria Abnormal retinal morphology Renal cyst Very long chain fatty acid accumulation Unsteady gait Abnormal cerebellum morphology Aggressive behavior Focal-onset seizure Intention tremor Respiratory insufficiency Truncal titubation Abnormal saccadic eye movements Agenesis of cerebellar vermis Delayed fine motor development Vertical nystagmus Nonprogressive cerebellar ataxia Delayed social development Titubation Visual fixation instability Cerebellar vermis atrophy Broad-based gait Gaze-evoked nystagmus Focal impaired awareness seizure Dysdiadochokinesis Delayed gross motor development Cerebral palsy Horizontal nystagmus Abnormal head movements Incoordination Mydriasis Language impairment Abnormal electroretinogram Retinal dystrophy Ventriculomegaly Hypoplasia of the corpus callosum Abnormality of the eye Cerebellar vermis hypoplasia Hyperventilation Myelomeningocele Intermittent hyperventilation Hearing impairment Neoplasm Stroke Falls Abnormality of the face Dysphasia Motor axonal neuropathy Pontocerebellar atrophy Impaired smooth pursuit Progressive gait ataxia Type II diabetes mellitus Progressive cerebellar ataxia Abnormal pyramidal sign Pes cavus Poor coordination Speech apraxia Esotropia Autistic behavior Oromotor apraxia Incomprehensible speech Hypergalactosemia Abnormality of the basal ganglia Self-mutilation


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