Global developmental delay, and Schizophrenia

Diseases related with Global developmental delay and Schizophrenia

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

Top matches:

Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by Dabell et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about CHROMOSOME 2P16.3 DELETION SYNDROME

Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

HYPERPROLINEMIA TYPE 1 Is also known as hpi|proline oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPROLINEMIA TYPE 1

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Other less relevant matches:

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dysphagia Dementia Bipolar affective disorder Chorea Dysarthria Mental deterioration Hyperreflexia Spasticity Failure to thrive Neuronal loss in central nervous system Tremor Abnormal pyramidal sign Sleep disturbance Hyperactivity Anxiety Psychosis Hearing impairment Autistic behavior Clumsiness Muscular hypotonia Autism Delayed speech and language development

Rare Symptoms - Less than 30% cases

Retinal degeneration Gait disturbance Cataract Dysmetria Intrauterine growth retardation Motor delay Dyskinesia Depressivity Progressive visual loss Hallucinations Progressive neurologic deterioration Abnormality of extrapyramidal motor function Dystonia Thrombocytopenia Head tremor Paralysis Ophthalmoplegia Supranuclear ophthalmoplegia Neurological speech impairment Cryptorchidism Abnormality of movement Orofacial dyskinesia Hepatomegaly Athetosis Frontal bossing Microcephaly Aggressive behavior Hypoplasia of the corpus callosum Short stature Blindness Visual loss Cognitive impairment Gliosis Hypospadias Urinary incontinence Parkinsonism Intellectual disability, mild Hypertonia Memory impairment Cerebral calcification Hydrocephalus Bradykinesia Atrial septal defect Postural instability Talipes equinovarus Choreoathetosis Broad-based gait Muscle stiffness Slurred speech Dysdiadochokinesis Abnormal cerebellum morphology Oral-pharyngeal dysphagia Vertigo Encephalopathy Hypertension Pain Fatigue Constrictive median neuropathy Ventriculomegaly Relative macrocephaly Headache Tetralogy of Fallot Gait ataxia Glaucoma Specific learning disability Rigidity Hip dysplasia Arthrogryposis multiplex congenita Abnormality of the liver Hip dislocation Corneal opacity Attention deficit hyperactivity disorder Gastroesophageal reflux Intellectual disability, moderate Pill-rolling tremor Emotional lability Trismus Bruising susceptibility Neurodegeneration Ascites Tetraplegia Oligohydramnios Mitral valve prolapse Spastic tetraplegia Intellectual disability, profound Intention tremor Dysphonia Prolonged neonatal jaundice Neurofibrillary tangles Loss of speech Supranuclear gaze palsy Abnormality of the cerebral white matter Spastic dysarthria Aplasia/Hypoplasia of the abdominal wall musculature Foam cells Visceromegaly Vertical supranuclear gaze palsy Cataplexy Bone-marrow foam cells Rapid neurologic deterioration Fetal ascites Congenital thrombocytopenia Sea-blue histiocytosis Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Cirrhosis Generalized tonic-clonic seizures Mask-like facies Focal motor seizures Abnormality of neuronal migration Basal ganglia calcification Progressive encephalopathy Frontotemporal dementia Lewy bodies Abnormal lower motor neuron morphology Calcinosis Focal dystonia Pseudohypoparathyroidism Alcoholism Mood swings Subcutaneous hemorrhage Limb dysmetria Micrographia Skin rash Progressive choreoathetosis Strabismus Calcification of the small brain vessels Dense calcifications in the cerebellar dentate nucleus Growth delay Anemia Splenomegaly Pneumonia Myoclonus Jaundice Hepatosplenomegaly Neonatal hypotonia Abnormality of the nervous system Developmental regression Macrocephaly Low-set ears Hypertelorism Hypoglycemia External ophthalmoplegia Incoordination Ophthalmoparesis Blurred vision Macular dystrophy Slow saccadic eye movements Spinocerebellar tract degeneration Olivopontocerebellar atrophy Limb tremor Spinocerebellar atrophy Vomiting Hypogonadism Muscular dystrophy Pigmentary retinopathy Delayed puberty Asthma Dehydration Hyperpigmentation of the skin Hypogonadotrophic hypogonadism Accelerated skeletal maturation Azoospermia Shock Precocious puberty Hyponatremia Adrenal insufficiency Primary adrenal insufficiency Macular degeneration Progressive cerebellar ataxia Adrenal hyperplasia Bruxism Abnormality of the skeletal system Neoplasm EEG abnormality Proteinuria Ichthyosis Nephropathy Status epilepticus Hemiparesis Stereotypy Severe muscular hypotonia Nephritis Nephroblastoma Motor deterioration Paraplegia Hyperglycinuria Hydroxyprolinuria Prolinuria Hyperprolinemia Nystagmus Ptosis Optic atrophy Areflexia Babinski sign Reduced visual acuity Retinopathy Spastic paraplegia Adrenal hypoplasia Renal salt wasting Scoliosis Broad forehead Tapetoretinal degeneration Hemianopia Subcortical cerebral atrophy Vestibular hypofunction Abnormal cochlea morphology Absent vestibular function Abnormal facial shape Epicanthus Malar flattening Cerebellar hypoplasia Posteriorly rotated ears Mandibular prognathia Smooth philtrum Chronic sinusitis Thick eyebrow Short distal phalanx of finger Thick vermilion border Highly arched eyebrow Cerebellar vermis hypoplasia Gingival overgrowth Widely spaced teeth Sparse eyebrow Obsessive-compulsive behavior Neurodevelopmental delay Long nose Facial hypotonia Undetectable electroretinogram Peripheral visual field loss Oligospermia Cerebral cortical atrophy Decreased circulating cortisol level High-frequency hearing impairment Gonadotropin deficiency Long penis Decreased circulating aldosterone level Congenital adrenal hyperplasia Abnormal spermatogenesis Congenital adrenal hypoplasia Absence of pubertal development Adrenocortical hypoplasia Sensorineural hearing impairment Rod-cone dystrophy Abnormality of the eye Iris hypopigmentation Nyctalopia Bronchiectasis Sinusitis Abnormality of dental enamel Progressive hearing impairment Mutism Abnormal electroretinogram Aplasia/Hypoplasia of the cerebellum Vestibular dysfunction Decreased fertility Scotoma High hypermetropia Severe hearing impairment Fatal liver failure in infancy


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