Intellectual disability, severe, and Small for gestational age

Diseases related with Intellectual disability, severe and Small for gestational age

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

High match NDE1-RELATED MICROHYDRANENCEPHALY


NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

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Other less relevant matches:

High match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High 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

High match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

High match COCKAYNE SYNDROME TYPE 2


Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

High match DISTAL MONOSOMY 15Q


Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

DISTAL MONOSOMY 15Q Is also known as monosomy 15q26|drayer syndrome|telomeric 15q deletion syndrome|distal 15q deletion syndrome|15q26 deletion syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DISTAL MONOSOMY 15Q

High match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Small for gestational age

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Intellectual disability, severe and Small for gestational age. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Spasticity

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Strabismus Abnormal facial shape Delayed speech and language development Intrauterine growth retardation Micrognathia Failure to thrive Smooth philtrum Long philtrum Macrotia Deeply set eye Abnormality of the pinna Hypoplasia of the corpus callosum Sparse hair Postnatal growth retardation Broad nasal tip Muscular hypotonia of the trunk Wide nasal bridge Dysarthria Hypertelorism Micropenis Widely spaced teeth Blepharophimosis Short philtrum Absent speech Hearing impairment Epicanthus Downturned corners of mouth Full cheeks Round face Agenesis of corpus callosum Cleft palate Prominent nasal bridge Severe short stature Feeding difficulties Autism Hypotelorism Eczema Ataxia Motor delay Autistic behavior Talipes equinovarus Ventriculomegaly Hyperreflexia Hyperactivity

Rare Symptoms - Less than 30% cases


Absence seizures Delayed skeletal maturation Hypospadias Delayed puberty Acidosis Hypoglycemia Gait ataxia Diabetes mellitus Aggressive behavior Lactic acidosis Anteverted nares Tremor Downslanted palpebral fissures Cerebral atrophy Triangular face Sensorineural hearing impairment Obesity Nystagmus Short palpebral fissure Dystonia Wide intermamillary distance Wide nose Thin vermilion border Brachydactyly Thin upper lip vermilion Cerebral cortical atrophy Partial agenesis of the corpus callosum Broad philtrum Coarse facial features Low-set ears Attention deficit hyperactivity disorder Muscular hypotonia Severe global developmental delay Recurrent hypoglycemia Thick lower lip vermilion Highly arched eyebrow Brisk reflexes Brain atrophy Drooling Abnormality of the dentition Hypertonia Hypoplasia of the brainstem Telecanthus Flexion contracture Spastic tetraplegia Sloping forehead Tetraparesis Synophrys Osteoporosis Progressive microcephaly Thick eyebrow Broad-based gait Poor speech Long face Cerebellar calcifications Carious teeth Limitation of joint mobility Polyneuropathy Abnormality of the skeletal system Abnormality of skin pigmentation Dry skin Ventricular septal defect Atrial septal defect Microcornea Clinodactyly Congenital cataract Mandibular prognathia Hypermetropia Patent ductus arteriosus Proteinuria Upslanted palpebral fissure Subcortical white matter calcifications Abnormality of the kidney Pulmonary hypoplasia Joint hypermobility Abnormal cardiac septum morphology Hip dislocation Genu valgum Talipes Dental malocclusion Abnormal peripheral myelination Pigmentary retinopathy Hypoplasia of teeth Abnormality of visual evoked potentials Basal ganglia calcification Thickened calvaria Reduced subcutaneous adipose tissue Anhidrosis Severe failure to thrive Atypical scarring of skin Decreased nerve conduction velocity Dermal atrophy Progeroid facial appearance Hypoplastic iliac wing Hypoplastic pelvis Opacification of the corneal stroma Dry hair Abnormal auditory evoked potentials Patchy demyelination of subcortical white matter Delayed eruption of primary teeth Decreased lacrimation Loss of facial adipose tissue Normal pressure hydrocephalus Increased cellular sensitivity to UV light Abnormality of the hair Severe photosensitivity Unilateral narrow palpebral fissure Slender nose Peripheral dysmyelination Square pelvis bone Ivory epiphyses of the phalanges of the hand Hypoplasia of the iris Cutaneous photosensitivity Short distal phalanx of finger Broad columella Small hand Abnormality of epiphysis morphology Clubbing of toes Sandal gap Accelerated skeletal maturation Narrow palpebral fissure Joint dislocation Low anterior hairline Short phalanx of finger Excessive wrinkled skin Long eyelashes Sparse scalp hair Status epilepticus Specific learning disability Short metacarpal Everted lower lip vermilion Curly eyelashes Thick nasal alae Broad distal phalanx of finger High, narrow palate Narrow nasal bridge Wide nasal base Abnormality of the testis Abnormal hair pattern Echolalia Abnormality of finger Epileptic spasms Protruding tongue Dysphasia Mutism Aphasia Absent eyebrow Cone-shaped epiphysis Overfolded helix Eclabion Short metatarsal Abnormality of the metacarpal bones Prominent eyelashes Prominent interphalangeal joints Single transverse palmar crease Flat occiput Single umbilical artery Enlarged joints Cystic hygroma Short finger Hypoplastic left heart Short middle phalanx of finger Bicuspid aortic valve Generalized joint laxity Multicystic kidney dysplasia Finger clinodactyly Short thumb Cafe-au-lait spot Small nail Coarctation of aorta Congenital diaphragmatic hernia Mitral stenosis Bifid tongue Short palm Low 1-minute APGAR score Hypotrichosis Wide mouth Brachycephaly Alopecia Hernia Abnormality of cardiovascular system morphology Scoliosis Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis Abnormal localization of kidney Arrhythmia Aplasia cutis congenita over the scalp vertex Exodeviation Mitral atresia Abnormal aortic arch morphology Decreased serum insulin-like growth factor 1 Short proximal phalanx of finger 2-3 toe cutaneous syndactyly Episodic ataxia Microphthalmia Abnormal vertebral morphology Polyuria Hyperglycemia Polydipsia Oligodontia Type I diabetes mellitus Truncal ataxia Fine hair Ketoacidosis Renal hypoplasia Blue sclerae Delayed myelination Dysmetria Hyperlordosis Kyphoscoliosis High pitched voice Down-sloping shoulders Narrow mouth Neurological speech impairment Prominent nasal tip Bruxism Prominent metopic ridge Long nose Microretrognathia Bifid uvula Protruding ear Maternal diabetes Prominent forehead Short nose Depressed nasal bridge Increased vertebral height Kinetic tremor Prominent superficial veins Hypothyroidism Pectus excavatum Ptosis Small earlobe Pachygyria Generalized myoclonic seizures Proptosis Cerebellar hypoplasia Hydrocephalus Skeletal muscle atrophy Thickened helices Intellectual disability, progressive Hallux valgus Failure to thrive in infancy Narrow forehead Febrile seizures Bulbous nose Gait disturbance Knee flexion contracture Poor head control Achilles tendon contracture Pes cavus Thick upper lip vermilion Short chin Narrow face Esotropia Underdeveloped nasal alae Prominent nose Elevated serum creatine phosphokinase Athetosis Myopathy Severe hydrocephalus Hydranencephaly Profound global developmental delay Self-mutilation Generalized amyotrophy Multiple joint contractures Long upper lip Cognitive impairment Renal insufficiency Cleft lip Open mouth Hypoplasia of penis Growth hormone deficiency Tapered finger Thick vermilion border Inability to walk EEG abnormality Spastic tetraparesis Difficulty walking Hypogonadism Babinski sign Myopia Apneic episodes precipitated by illness, fatigue, stress Basal ganglia cysts Lower limb spasticity Pancreatitis Congenital lactic acidosis Muscle weakness Kyphosis Splenomegaly Optic atrophy Hepatomegaly Hypertension Cataract Tall chin Agitation Birth length less than 3rd percentile Abdominal obesity Male hypogonadism Large earlobe Depressed nasal tip External genital hypoplasia Chronic lactic acidosis Decreased activity of the pyruvate dehydrogenase complex Frontal bossing Lethargy Increased serum lactate Tetraplegia Coma Metabolic acidosis Abnormality of eye movement Ophthalmoplegia Paralysis Clumsiness Abnormality of the nervous system Respiratory failure Pneumonia Areflexia Encephalopathy Dilatation Choreoathetosis Heterotopia Flared nostrils Preeclampsia Hyperalaninemia Olivopontocerebellar atrophy Severe lactic acidosis Breech presentation Increased CSF lactate Short attention span Mild microcephaly Tachypnea Mild global developmental delay Ketosis Hyperventilation Central hypotonia Infantile spasms Global brain atrophy Hyperammonemia Prominent proximal interphalangeal joints



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