Global developmental delay, and Talipes

Diseases related with Global developmental delay and Talipes

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


Top matches:

Medium match AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS


Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS Is also known as autosomal recessive axonal charcot-marie-tooth disease type 2k|autosomal recessive axonal cmt4c4|charcot-marie-tooth disease, axonal, autosomal recessive, type 2k|arcmt2k|charcot-marie-tooth neuropathy, axonal, type 2k

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

Medium match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1


IECEE1 is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017). Genetic Heterogeneity of Infantile or Early Childhood Epileptic EncephalopathySee also IECEE2 (OMIM ), caused by mutation in the GABRB2 gene (OMIM ) on chromosome 5q34, and IECEE3 (OMIM ), caused by mutation in the ATP6V1A gene (OMIM ) on chromosome 3q13.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1

Medium match MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

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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:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 24; JBTS24

Medium match LISSENCEPHALY 8; LIS8


Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 8; LIS8

Medium match AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY


This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Medium match CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION


Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45


Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45 Is also known as autosomal recessive spastic paraplegia type 65|spg45|spg65

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45

Medium match ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME


Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Seizures Optic atrophy Ataxia Gait disturbance Microcephaly Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Cerebellar atrophy Motor delay Nystagmus Flexion contracture Peripheral neuropathy Muscle weakness Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Hypoplasia of the brainstem Proximal muscle weakness Abnormal pyramidal sign Ventriculomegaly Distal muscle weakness Intellectual disability, severe Cerebellar hypoplasia Inability to walk Spastic gait Elevated serum creatine phosphokinase Encephalocele Myopathy Cerebral visual impairment Babinski sign Strabismus Tremor Gait ataxia Progressive cerebellar ataxia EMG abnormality Limb muscle weakness Polymicrogyria Visual impairment Peripheral axonal neuropathy Abnormality of the foot Developmental regression Encephalopathy Distal sensory impairment Cerebellar vermis atrophy Cerebral atrophy Sensory impairment Acute hepatic failure Distal lower limb muscle weakness Congenital muscular dystrophy Generalized amyotrophy Spinal rigidity Progressive gait ataxia Poor head control Neck muscle weakness Limb-girdle muscle weakness Axial muscle weakness Short stature Cachexia Myocardial infarction Respiratory insufficiency due to muscle weakness Muscular dystrophy Feeding difficulties Generalized limb muscle atrophy Respiratory insufficiency Congestive heart failure Arrhythmia Hyperlordosis Narrow chest Saccadic smooth pursuit Joint hyperflexibility Limitation of joint mobility Decreased fetal movement Dysmetric saccades Severe global developmental delay Severe muscular hypotonia Myopia Spastic paraplegia Glaucoma Hepatomegaly Paresthesia Intention tremor Frequent falls Hepatic fibrosis Abnormality of the liver Paraparesis Hepatosplenomegaly Reduced visual acuity Hyporeflexia Muscular hypotonia Splenomegaly Spastic paraparesis Intellectual disability, mild Fever Dysplastic corpus callosum Optic neuropathy Flexion contracture of toe Stuttering Pendular nystagmus Genu recurvatum Urinary bladder sphincter dysfunction Ankle contracture Knee flexion contracture Lower limb spasticity Abnormal cerebellum morphology Paraplegia Athetosis Sensorimotor neuropathy Hepatic failure Foot dorsiflexor weakness Delayed speech and language development Dystonia Failure to thrive Unsteady gait Abnormality of eye movement Hypermetropia Abnormality of the eye Polydactyly Cerebral white matter hypoplasia Spastic tetraparesis Progressive microcephaly Tetraparesis Upslanted palpebral fissure Multifocal seizures Multifocal epileptiform discharges Hypsarrhythmia Epileptic encephalopathy Delayed myelination Abnormal facial shape Postaxial polydactyly Split hand Areflexia Kyphoscoliosis Difficulty walking Lower limb muscle weakness Distal amyotrophy Peripheral demyelination Decreased nerve conduction velocity Hypertelorism Decreased motor nerve conduction velocity Decreased number of peripheral myelinated nerve fibers Abnormal cranial nerve morphology Vocal cord paresis Hand muscle atrophy Axonal regeneration Dysmetria Postaxial hand polydactyly Growth delay Axonal degeneration Lactic acidosis Increased serum lactate Gynecomastia Exercise intolerance Brisk reflexes Neurodevelopmental delay Central hypotonia Intellectual disability, moderate Increased CSF lactate Generalized tonic seizures Increased intramyocellular lipid droplets Epilepsia partialis continua Talipes cavus equinovarus Focal T2 hypointense basal ganglia lesion Stroke Myoclonus Pachygyria Generalized myoclonic seizures Mutism Molar tooth sign on MRI Abnormality of digit Agenesis of cerebellar vermis Cataract Microphthalmia Lissencephaly Pes cavus Occipital encephalocele Delayed ability to walk Abnormal myelination Type II lissencephaly Hearing impairment Cognitive impairment Progressive spastic paraparesis



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