Microcephaly, and Severe global developmental delay

Diseases related with Microcephaly and Severe global developmental delay

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


Top matches:

High match DIHYDROPTERIDINE REDUCTASE DEFICIENCY


Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.

DIHYDROPTERIDINE REDUCTASE DEFICIENCY Is also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency|pku type 2|phenylketonuria type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIHYDROPTERIDINE REDUCTASE DEFICIENCY

High match SECKEL SYNDROME 6; SCKL6


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

High match 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY


3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

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Other less relevant matches:

High match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

High match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6


Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

High match X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS


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.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13

High match PONTOCEREBELLAR HYPOPLASIA TYPE 4


Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.

PONTOCEREBELLAR HYPOPLASIA TYPE 4 Is also known as fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia|pch4

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Cerebellar atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 4

High match CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY


Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

High match MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC


MISSBC is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, early-onset seizures, and severely delayed or even absent psychomotor development with profound intellectual disability and spasticity or dystonia. Brain imaging shows midbrain dysplasia and intracerebral calcifications (summary by Aran et al., 2016).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC

Top 5 symptoms//phenotypes associated to Microcephaly and Severe global developmental delay

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Hypertonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Microcephaly and Severe global developmental delay. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Generalized hypotonia Encephalopathy Dystonia

Rare Symptoms - Less than 30% cases


Ataxia Abnormal facial shape Generalized tonic-clonic seizures Cerebellar hypoplasia Cerebellar atrophy Cerebral calcification Hypsarrhythmia Agenesis of corpus callosum Ventriculomegaly Hyperreflexia Cognitive impairment Partial agenesis of the corpus callosum Hypoplasia of the corpus callosum Progressive microcephaly Dysphagia Brain atrophy Short stature Delayed speech and language development Absence seizures Cerebral atrophy Brisk reflexes Aspiration Hypoplasia of the brainstem Congenital contracture Neuronal loss in central nervous system Basal ganglia calcification Gliosis Infantile encephalopathy Severe vision loss Polyhydramnios Respiratory failure Myoclonus Abnormality of metabolism/homeostasis Flexion contracture Hypoplasia of the pons Nonprogressive encephalopathy Loss of Purkinje cells in the cerebellar vermis Epileptic spasms Focal white matter lesions Abnormal CNS myelination Visual impairment Muscular hypotonia of the trunk Tetraplegia Generalized myoclonic seizures Spastic tetraplegia Intellectual disability, profound Doll-like facies Postnatal microcephaly Abnormal myelination Athetosis Leukoencephalopathy Poor speech Abnormality of the cerebral white matter Sensorineural hearing impairment Nystagmus Hearing impairment Scoliosis Infantile spasms Atrial septal defect Polymicrogyria Coarctation of aorta Thin vermilion border Hypermetropia Autistic behavior Patent ductus arteriosus Abnormality of the dentition Feeding difficulties Pachygyria Cryptorchidism Cleft palate Strabismus Postnatal growth retardation Intrauterine growth retardation Failure to thrive Growth delay Sloping forehead Heterotopia Global brain atrophy Adducted thumb Generalized-onset seizure Epileptic encephalopathy Focal-onset seizure Developmental regression Autism Pain Inferior vermis hypoplasia Aganglionic megacolon Lissencephaly Absent speech Intellectual disability, mild Hydrocephalus Muscle weakness Dilation of lateral ventricles Limb hypertonia Cortical gyral simplification Congenital microcephaly



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