Global developmental delay, and Pes planus

Diseases related with Global developmental delay and Pes planus

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

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.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

Other less relevant matches:

Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

Top 5 symptoms//phenotypes associated to Global developmental delay and Pes planus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability, moderate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Myopia Strabismus Absent speech Visual impairment Ataxia

Rare Symptoms - Less than 30% cases

Status epilepticus Spasticity Cataract Intellectual disability, severe Aggressive behavior Flexion contracture Arthralgia Cerebral visual impairment Clinodactyly Fever Dysdiadochokinesis Dysmetria Behavioral abnormality Abnormality of the skeletal system Gait ataxia Delayed speech and language development Cerebellar atrophy Cognitive impairment Hypsarrhythmia Bifid uvula Hypertelorism Nystagmus Dysarthria Tremor Hyperreflexia Full cheeks Hypertonia Constipation Deeply set eye Muscular hypotonia of the trunk Thick eyebrow Narrow mouth Micrognathia Epileptic encephalopathy Growth delay Generalized tonic-clonic seizures with focal onset Upslanted palpebral fissure Focal impaired awareness seizure Dysphagia Feeding difficulties Thin upper lip vermilion Underdeveloped nasal alae Abnormality of the cerebral white matter Hypermetropia Abnormal facial shape Small hand Long eyelashes Prominent nose Short palpebral fissure Failure to thrive Postnatal microcephaly Sandal gap Overlapping toe Broad hallux Epicanthus Slender finger Broad nasal tip Anteverted nares Widely spaced teeth Opacification of the corneal stroma Coarse facial features Hyperlordosis Joint stiffness Pectus carinatum Genu valgum Cardiomegaly Aortic valve stenosis Aortic regurgitation Intellectual disability, mild Abnormality of the hand Spondyloepiphyseal dysplasia Dysostosis multiplex Flared iliac wings Abnormality of the rib cage Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Kyphosis Short neck Tented upper lip vermilion Emotional lability Sensorineural hearing impairment Depressivity Camptodactyly of finger Skin rash High myopia Interphalangeal joint contracture of finger Adducted thumb Limited elbow extension Pain Overweight Generalized joint laxity Mood swings Stuttering Hypersexuality Tryptophanuria Head-banging Scoliosis Joint laxity Encephalopathy Choanal atresia Thrombocytopenia Functional motor deficit Retrocerebellar cyst Inferior vermis hypoplasia Abnormality of ocular abduction Brachydactyly Edema Immunodeficiency Scarring Gaze-evoked horizontal nystagmus Autoimmunity Everted lower lip vermilion Inflammatory abnormality of the skin Subcutaneous nodule Vasculitis Combined immunodeficiency Episodic fever Limb dysmetria Difficulty standing Periorbital edema Ventriculomegaly Syndactyly Thin vermilion border Flat occiput Submucous cleft hard palate Abnormally large globe Depressed nasal bridge Ptosis Cleft palate Hypometric saccades Abnormal pyramidal sign Neurological speech impairment Abnormality of eye movement Polyneuropathy Esotropia Intellectual disability, profound Horizontal nystagmus Recurrent viral infections Lymphadenitis Chorea Dystonia Cortical gyral simplification Gaze-evoked nystagmus Nonprogressive cerebellar ataxia Cryptorchidism Muscle weakness Hypoplasia of the corpus callosum Atrial septal defect Cerebral atrophy Hypoplasia of the brainstem Long philtrum Autism EEG abnormality Developmental regression Autistic behavior Polymicrogyria Dyskinesia Toe walking Abnormality of vision Muscular hypotonia Abnormality of the eye Motor delay Skeletal muscle atrophy Gait disturbance Abnormality of metabolism/homeostasis Babinski sign Cerebellar hypoplasia Neonatal hypotonia Poor speech Cerebral palsy Abnormality of movement Arachnodactyly Progressive cerebellar ataxia Intention tremor Broad-based gait Pachygyria Truncal ataxia Increased serum beta-hexosaminidase


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Encephalocele, related diseases and genetic alterations Immunodeficiency and Muscular hypotonia of the trunk, related diseases and genetic alterations Peripheral neuropathy and Cholestasis, related diseases and genetic alterations Cataract and Genu valgum, related diseases and genetic alterations Scoliosis and Flexion contracture, related diseases and genetic alterations Microcephaly and Constipation, related diseases and genetic alterations