Delayed speech and language development, and Lissencephaly

Diseases related with Delayed speech and language development and Lissencephaly

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY; MRT34

MRT34 is an autosomal recessive neurologic disorder characterized by mild to moderate intellectual disability and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development


SOURCES: UMLS MONDO OMIM

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY; MRT34

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 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1

This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). Genetic Heterogeneity of CAMRQCAMRQ is a genetically heterogeneous disorder. See also CAMRQ2 (OMIM ), caused by mutation in the WDR81 gene (614218) on chromosome 17p; CAMRQ3 (OMIM ), caused by mutation in the CA8 gene (OMIM ) on chromosome 8q11; and CAMRQ4 (OMIM ), caused by mutation in the ATP8A2 gene (OMIM ) on chromosome 13q12.

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 Is also known as cerebellar hypoplasia, vldlr-associated, cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1, cerebellar ataxia, congenital, and mental retardation, autosomal recessive, dysequilibrium syndrome;des;camrq syndrome; cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome; non-progressive cerebellar ataxia-intellectual disability syndrome

Related symptoms:

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


SOURCES: UMLS ORPHANET MONDO OMIM SCTID

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1

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Other less relevant matches:

Medium match JOUBERT SYNDROME 24; JBTS24

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MONDO OMIM DOID UMLS

More info about JOUBERT SYNDROME 24; JBTS24

Low match MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: MONDO OMIM MESH UMLS

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

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:

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


SOURCES: MONDO UMLS OMIM

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

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MONDO UMLS OMIM MESH

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Low match CK SYNDROME

CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. It is named after the first identified patient (summary by McLarren et al., 2010).CHILD syndrome (OMIM ) is an allelic disorder with a different phenotype.

CK SYNDROME Is also known as mental retardation, x-linked, with thin body habitus and cortical malformation;x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Related symptoms:

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


SOURCES: OMIM UMLS ORPHANET MONDO

More info about CK SYNDROME

Low match SKRABAN-DEARDORFF SYNDROME; SKDEAS

SKDEAS is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017).

SKRABAN-DEARDORFF SYNDROME; SKDEAS Is also known as intellectual disability with seizures, abnormal gait, and distinctive facial features

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about SKRABAN-DEARDORFF SYNDROME; SKDEAS

Low match MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP

MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP Is also known as polymicrogyria with seizures;pmgys;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Pica


SOURCES: MONDO OMIM GARD ORPHANET

More info about MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Lissencephaly

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Absent speech Common - Between 50% and 80% cases
Pachygyria Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Polymicrogyria

Common Symptoms - More than 50% cases


Intellectual disability, severe

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Cerebellar hypoplasia

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Hypoplasia of the corpus callosum Microcephaly Heterotopia Motor delay Ataxia Intellectual disability, moderate Micrognathia Cerebellar atrophy Infantile onset Spasticity Abnormal pyramidal sign Dysmetria Short stature Dysarthria Hyperreflexia Poor speech Ventriculomegaly

Rare Symptoms - Less than 30% cases


Truncal ataxia Kyphosis Gait disturbance Tremor Congenital onset Coarse facial features Gait ataxia Pica Abnormal corpus callosum morphology Intention tremor Dysdiadochokinesis Hyperactivity Cortical gyral simplification Spastic tetraparesis Intellectual disability, progressive Abnormality of digit Growth delay Abnormal facial shape Intrauterine growth retardation Wide nasal bridge Tetraparesis Sloping forehead Aggressive behavior Hearing impairment Cerebellar vermis hypoplasia Cognitive impairment Hemiparesis Cortical dysplasia Feeding difficulties Agenesis of corpus callosum Dilatation Muscular hypotonia Nystagmus Cataract Hypoplasia of the brainstem Malar flattening Mild short stature X-linked recessive inheritance Periventricular gray matter heterotopia Severe failure to thrive High palate Duodenal atresia Multiple joint contractures Cardiorespiratory arrest Epicanthus Scoliosis Respiratory arrest Pineal cyst Atrophy of the dentate nucleus Short foot Sensorineural hearing impairment Tics Abnormality of the spinal cord Hyporeflexia Micropenis Gray matter heterotopias Short palm Hirsutism Aplasia of the inferior half of the cerebellar vermis Small hand Brain atrophy Inability to walk Global brain atrophy Thoracic scoliosis Thoracic kyphosis Unilateral renal agenesis Abnormality of the neck Posteriorly rotated ears Ectopic kidney Renal cortical cysts Wide mouth Full cheeks Severe short stature Hypospadias Otitis media Flexion contracture Amblyopia Abnormality of the skeletal system Widely spaced teeth Cryptorchidism Sparse lateral eyebrow Failure to thrive Hyperplasia of the maxilla Happy demeanor Constipation Anteverted nares Craniosynostosis Long face Upslanted palpebral fissure EEG abnormality Retrognathia Hyperlordosis Prominent nasal bridge Irritability Joint hypermobility Depressed nasal bridge Sleep disturbance Dental crowding Narrow face Abnormal cortical bone morphology Slender build Almond-shaped palpebral fissure Recurrent otitis media Thick lower lip vermilion Buphthalmos Progressive cerebellar ataxia Abnormality of metabolism/homeostasis Babinski sign Pes planus Abnormality of the eye Abnormality of movement Arachnodactyly Abnormality of vision Esodeviation Cerebral palsy Broad-based gait Toe walking Gaze-evoked nystagmus Nonprogressive Scissor gait Skeletal muscle atrophy Congenital microcephaly Talipes equinovarus Blindness Autism Arnold-Chiari malformation Megalencephaly Increased head circumference Autosomal dominant inheritance Hypertonia Muscular hypotonia of the trunk Hemianopia Tetraplegia Focal seizures Spastic tetraplegia Cortical visual impairment Intellectual disability, profound Abnormality of neuronal migration Cerebellar dysplasia Nevus Polydactyly Cerebellar cyst Muscular dystrophy Coma Microphthalmia Elevated serum creatine phosphokinase Glaucoma Respiratory failure Corneal opacity Abnormality of the cerebral white matter Macrocephaly Acrania Retinal dystrophy Cerebral calcification High myopia Leukodystrophy Holoprosencephaly Poor head control Hydrocephalus Myopia Talipes Molar tooth sign on MRI Hypermetropia Postaxial polydactyly Postaxial hand polydactyly Encephalocele Mutism Cephalocele Adactyly Myopathy Agenesis of cerebellar vermis Long philtrum Abnormality of the genital system Decreased fetal movement Impulsivity Maternal diabetes Schizencephaly Short corpus callosum



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