Delayed speech and language development, and Ventriculomegaly

Diseases related with Delayed speech and language development and Ventriculomegaly

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


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: UMLS OMIM MONDO ORPHANET

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36

Low match PYRIDOXINE-DEPENDENT EPILEPSY

Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency; vitamin b6-dependent seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET

More info about PYRIDOXINE-DEPENDENT EPILEPSY

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Motor delay
  • Abnormal facial shape


SOURCES: UMLS OMIM DOID MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

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Other less relevant matches:

Low 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

Low match MENTAL RETARDATION, X-LINKED 103; MRX103

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Anteverted nares


SOURCES: OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

Low match MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15

Low 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

Low match MENTAL RETARDATION, X-LINKED 12; MRX12

X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

MENTAL RETARDATION, X-LINKED 12; MRX12 Is also known as mental retardation, x-linked 35;mrx35;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MONDO UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED 12; MRX12

Low 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

Low match MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment


SOURCES: OMIM MONDO UMLS MESH

More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Microcephaly Hypoplasia of the corpus callosum Motor delay Neurological speech impairment Cerebellar hypoplasia Short stature

Rare Symptoms - Less than 30% cases


Ataxia Congenital onset Intellectual disability, severe Hyperreflexia Tremor Polymicrogyria X-linked recessive inheritance Cerebellar cyst Cortical gyral simplification Cortical dysplasia Hypoplasia of the brainstem Cerebellar vermis hypoplasia Nystagmus Strabismus Infantile onset Cryptorchidism Abnormal facial shape Esotropia Abnormality of the foot Cervical cord compression High myopia Retinal dystrophy Abnormality of eye movement Abnormality of the cerebral white matter Elevated serum creatine phosphokinase Myopia Muscle weakness Truncal obesity Microphallus Heterotopia Gliosis Obesity Behavioral abnormality Gait disturbance Failure to thrive Abnormality of ocular abduction Inferior vermis hypoplasia Functional motor deficit Apraxia Oculomotor apraxia Amblyopia Intellectual disability, moderate Small cerebral cortex Prominent glabella Hypoplasia of the frontal lobes Thick corpus callosum Partial agenesis of the corpus callosum Narrow forehead Sloping forehead Highly arched eyebrow Attention deficit hyperactivity disorder Hyperactivity Gaze-evoked horizontal nystagmus Proptosis Agenesis of corpus callosum Growth delay Hearing impairment Retinal thinning Dilated fourth ventricle Cerebellar dysplasia Abnormally large globe Abnormality of the periventricular white matter Retinal atrophy Retrocerebellar cyst Hypometric saccades Difficulty standing Status epilepticus Talipes equinovarus Cerebral cortical atrophy EEG abnormality Abnormality of movement Short palm Wide mouth Coarse facial features Micropenis Anteverted nares Hepatomegaly Multifocal epileptiform discharges Infantile spasms Immunodeficiency Hypsarrhythmia Autism Arrhythmia Autistic behavior Autosomal dominant inheritance Tall stature Abnormality of metabolism/homeostasis Upslanted palpebral fissure Limb dysmetria Cerebellar atrophy Febrile seizures Dysdiadochokinesis Horizontal nystagmus Polyneuropathy Dysmetria Slow progression Abnormal pyramidal sign Pes planus Gait ataxia Delayed myelination Progressive Dysarthria Ptosis Muscular hypotonia Cerebral white matter hypoplasia Spastic tetraparesis Progressive microcephaly Spastic gait Inability to walk Tetraparesis Unilateral polymicrogyria



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