Cognitive impairment, and Small for gestational age

Diseases related with Cognitive impairment and Small for gestational age

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Small for gestational age that can help you solving undiagnosed cases.


Top matches:

Medium match SCHIZOPHRENIA; SCZD


Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA; SCZD

Medium match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A


Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|pts deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG


For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g|xpgc|xeroderma pigmentosum vii|xp7

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Medium match DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY


Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Medium match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Medium match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Medium match PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD


Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Medium match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Medium match LEPRECHAUNISM


Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Top 5 symptoms//phenotypes associated to Cognitive impairment and Small for gestational age

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cognitive impairment and Small for gestational age. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Dystonia Motor delay Generalized hypotonia Failure to thrive Spasticity Muscle weakness Ptosis Muscular hypotonia of the trunk Rigidity Bradykinesia Dysphagia Intrauterine growth retardation Short stature Abnormality of the nervous system Tremor Progressive neurologic deterioration Choreoathetosis Hypoglycemia Mild global developmental delay Abnormality of extrapyramidal motor function

Rare Symptoms - Less than 30% cases


Cataract Mental deterioration Transient hyperphenylalaninemia Dysarthria Hyperphenylalaninemia Hearing impairment Hyperglycemia Severe short stature Behavioral abnormality Frontal bossing Infantile spasms Peripheral neuropathy Cryptorchidism Encephalopathy Hypertelorism Hyperalaninemia Severe lactic acidosis Nystagmus Aspiration pneumonia Acidosis Increased serum lactate Generalized dystonia Excessive salivation Hyperactivity Metabolic acidosis Clumsiness Preeclampsia Long philtrum Anteverted nares Gynecomastia Pneumonia Lactic acidosis Dyskinesia Anxiety Poor speech Hyperreflexia Gait disturbance Abnormal facial shape Hypertonia Irritability Abnormality of eye movement Parkinsonism Muscular hypotonia Horizontal nystagmus Decreased activity of the pyruvate dehydrogenase complex Aspiration Hypsarrhythmia Type I diabetes mellitus Failure to thrive in infancy Congenital lactic acidosis Vomiting Dehydration Downturned corners of mouth Confusion Clinodactyly Chronic lactic acidosis Basal ganglia cysts Apneic episodes precipitated by illness, fatigue, stress Short nose Flexion contracture Diabetes mellitus Female pseudohermaphroditism Flared nostrils Areflexia Ophthalmoplegia Lethargy Paralysis Respiratory failure Cerebral cortical atrophy Agenesis of corpus callosum Dilatation Tetraplegia Cerebral atrophy Intellectual disability, severe Ventriculomegaly Wide nasal bridge Strabismus Central heterochromia Coma Brain atrophy Olivopontocerebellar atrophy Ketosis Broad philtrum Episodic ataxia Breech presentation Increased CSF lactate Short attention span Mild microcephaly Hyperventilation Spastic tetraplegia Bilateral ptosis Partial agenesis of the corpus callosum Global brain atrophy Hyperammonemia Tachypnea Heterotopia Central hypotonia Low-set ears Polydipsia Precocious puberty Hypermelanotic macule Decreased muscle mass Glucose intolerance Large hands Clitoral hypertrophy Prominent nipples Hyperinsulinemia Adipose tissue loss Cachexia Cutis laxa Acanthosis nigricans Generalized hirsutism Insulin resistance Hepatic fibrosis Gingival overgrowth Reduced subcutaneous adipose tissue Elfin facies Hypertrichosis Ovarian cyst Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Thick nasal alae Long penis Fasting hypoglycemia Small face Postprandial hyperglycemia Concave nasal ridge Long foot Severe failure to thrive Thickened nuchal skin fold Hearing abnormality Severe intrauterine growth retardation Lipoatrophy Cholestasis Thick lower lip vermilion Radial deviation of finger Beta-cell dysfunction Skeletal muscle atrophy Depressed nasal bridge Clinodactyly of the 4th finger Elevated hemoglobin A1c Thickened ears Transient neonatal diabetes mellitus Pancreatic hypoplasia Choroideremia Limb joint contracture Autoimmune antibody positivity Ketoacidosis Prominent metopic ridge Abnormality of the immune system Abnormality of the ear Polyuria Recurrent infections Hernia Epidermal acanthosis Postnatal growth retardation Type II diabetes mellitus Nail dysplasia Abdominal distention High, narrow palate Thick vermilion border Hirsutism Wide mouth Feeding difficulties in infancy Inguinal hernia Low-set, posteriorly rotated ears Umbilical hernia Macrotia Proptosis Hyperkeratosis Recurrent respiratory infections Delayed skeletal maturation Long eyebrows Obesity Alopecia areata Cleft upper lip Defective DNA repair after ultraviolet radiation damage Scoliosis Sensorineural hearing impairment Cleft palate Abnormality of the skeletal system Blindness Intellectual disability, mild Kyphosis Immunodeficiency High forehead Kyphoscoliosis Cleft lip Micromelia Oral cleft Neurodegeneration Neoplasm of the skin Macroglossia Hypoplastic scapulae Bulbar signs Achalasia Externally rotated hips Pain Delayed speech and language development Talipes equinovarus Babinski sign Myoclonus Hyperhidrosis Aggressive behavior Abnormal pyramidal sign Abnormality of movement Bilateral microphthalmos Broad-based gait Apraxia Borderline personality disorder Depressivity Dementia Autism EEG abnormality Chorea Psychosis Hallucinations Increased body weight Schizophrenia Akinesia Alzheimer disease Neurofibrillary tangles Bipolar affective disorder Delusions Mood swings Cutaneous photosensitivity Episodic fever Intention tremor Congenital cataract Erythema Pes cavus Microphthalmia Excessive daytime somnolence Hypokinesia Auditory hallucinations Poor suck Intellectual disability, progressive Postural instability Social and occupational deterioration Personality disorder Mania Sleep disturbance Involuntary movements Titubation Peripheral axonal neuropathy Decreased activity of mitochondrial respiratory chain Cerebellar atrophy Alopecia Rod-cone dystrophy Hypogonadism Micropenis Gait ataxia Hypothyroidism Pallor Sparse hair Distal muscle weakness Spastic paraplegia Delayed puberty Paraplegia Retinal degeneration Wolff-Parkinson-White syndrome Distal amyotrophy Thick eyebrow Progressive cerebellar ataxia Growth hormone deficiency Pigmentary retinopathy Hypoplasia of penis Sparse scalp hair Long eyelashes Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Sinus bradycardia Ketonuria Clonus Abnormality of the tongue Truncal ataxia Muscle stiffness Abnormal autonomic nervous system physiology Oculomotor apraxia Cerebral palsy Drooling Hyperkinesis Postural tremor Athetosis Agitation Drowsiness Limb hypertonia Hypomimic face Abnormality of the nose Hypersomnia Pleural effusion Arrhythmia Infantile muscular hypotonia Bradycardia Cardiomegaly Ascites Tachycardia Hypertrophic cardiomyopathy Congestive heart failure Excessive daytime sleepiness Cardiomyopathy Optic atrophy Hepatomegaly Feeding difficulties Temperature instability Oculogyric crisis Asymmetry of the breasts



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Proptosis, related diseases and genetic alterations Intellectual disability, severe and Developmental regression, related diseases and genetic alterations Lymphoma and Fatigue, related diseases and genetic alterations Tremor and Renal cell carcinoma, related diseases and genetic alterations Immunodeficiency and Delayed puberty, related diseases and genetic alterations Strabismus and High myopia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more