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:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS ORPHANET OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

High match MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY; MEHMO

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.

MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY; MEHMO Is also known as mental retardation, x-linked, syndromic 20;mrxs20, mental retardation, x-linked, syndromic 25;mrxs25;x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: GARD MESH SCTID ORPHANET OMIM UMLS DOID MONDO

More info about MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY; MEHMO

High match MICROHYDRANENCEPHALY; MHAC

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.

MICROHYDRANENCEPHALY; MHAC Is also known as hydranencephaly and microcephaly;mhac

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Motor delay


SOURCES: UMLS OMIM ORPHANET MESH MONDO GARD

More info about MICROHYDRANENCEPHALY; MHAC

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS MONDO OMIM MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

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:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH MONDO OMIM DOID UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

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

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Pica


SOURCES: OMIM UMLS MONDO

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

High match COCKAYNE SYNDROME B; CSB

Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME B; CSB Is also known as ;cockayne syndrome type ii

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly


SOURCES: UMLS ORPHANET NCIT OMIM MONDO GARD

More info about COCKAYNE SYNDROME B; CSB

High match CHROMOSOME 15q26-qter DELETION SYNDROME

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.

CHROMOSOME 15q26-qter DELETION SYNDROME Is also known as drayer syndrome;15q26 deletion syndrome; distal 15q deletion syndrome; monosomy 15q26; telomeric 15q deletion syndrome

Related symptoms:

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


SOURCES: MONDO ORPHANET OMIM DOID MESH UMLS

More info about CHROMOSOME 15q26-qter DELETION SYNDROME

High match CRI-DU-CHAT SYNDROME

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome, chromosome 5p deletion syndrome

Related symptoms:

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


SOURCES: DOID OMIM GARD MONDO MESH ICD10 NCIT ORPHANET ICD9

More info about CRI-DU-CHAT SYNDROME

High match NICOLAIDES-BARAITSER SYNDROME; NCBRS

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.

NICOLAIDES-BARAITSER SYNDROME; NCBRS Is also known as sparse hair and mental retardation, nbs;nicolaides-baraitser syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: SCTID ORPHANET MESH OMIM MONDO GARD UMLS

More info about NICOLAIDES-BARAITSER SYNDROME; NCBRS

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

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay 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


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Pica Abnormality of the pinna Intrauterine growth retardation Delayed speech and language development Micrognathia Generalized hypotonia Autosomal recessive inheritance Sparse hair Postnatal growth retardation Strabismus Short philtrum Hypertelorism Hearing impairment Smooth philtrum Round face Downturned corners of mouth Epicanthus Spasticity Feeding difficulties Autosomal dominant inheritance Abnormal facial shape Prominent nasal bridge Wide nasal bridge Blepharophimosis Micropenis Low-set ears Scoliosis Downslanted palpebral fissures Muscular hypotonia of the trunk Severe short stature Hypertonia Hyperreflexia Thick lower lip vermilion Eczema Macrotia Hypotelorism Talipes equinovarus

Rare Symptoms - Less than 30% cases


Abnormality of the kidney Autism Highly arched eyebrow Wide nose Thin vermilion border Thin upper lip vermilion Absent speech Long philtrum Hypoplasia of the corpus callosum Hyperactivity Severe global developmental delay Cleft palate Short palpebral fissure Brisk reflexes Phimosis Narrow face Long face Thick eyebrow Autistic behavior Synophrys Hypospadias Bifid uvula Absence seizures Sporadic Recurrent hypoglycemia Single transverse palmar crease Triangular face Broad nasal tip Obesity Ataxia Optic atrophy Cataract Tics Abnormality of cardiovascular system morphology Aggressive behavior Microretrognathia Wide mouth Short metacarpal Short metatarsal Delayed skeletal maturation Tremor Sensorineural hearing impairment Coarse facial features Telecanthus Brachydactyly Echolalia Widely spaced teeth Agenesis of corpus callosum Sloping forehead Motor delay Flexion contracture Full cheeks Self-mutilation Nystagmus Diabetes mellitus Hypoplasia of the brainstem Acidosis Dysarthria Abnormality of the dentition Short proximal phalanx of finger Bifid tongue Decreased serum insulin-like growth factor 1 Mitral stenosis Excessive wrinkled skin Abnormal localization of kidney Generalized joint laxity Abnormal aortic arch morphology Single umbilical artery Mitral atresia Exodeviation High, narrow palate Aplasia cutis congenita over the scalp vertex 2-3 toe cutaneous syndactyly Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis Cystic hygroma Milia High palate Myopia Thick nasal alae Short neck Broad distal phalanx of finger Wide nasal base Inguinal hernia Syndactyly Pes planus Low 1-minute APGAR score Short finger Hypoplastic left heart Short distal phalanx of finger Abnormality of the skeletal system Unilateral narrow palpebral fissure Patent ductus arteriosus Congenital onset Upslanted palpebral fissure Clinodactyly Abnormality of the genital system Hypoglycemia Attention deficit hyperactivity disorder Hip dislocation Abnormal cardiac septum morphology Genu valgum Prominent interphalangeal joints Talipes Pulmonary hypoplasia Short middle phalanx of finger Joint hypermobility Curly eyelashes Eclabion Small hand Clubbing of toes Congenital diaphragmatic hernia Coarctation of aorta Small nail Short thumb Multicystic kidney dysplasia Bicuspid aortic valve Intellectual disability, moderate Finger clinodactyly Flat occiput Gastroesophageal reflux Broad philtrum Feeding difficulties in infancy Short phalanx of finger Auricular tag Abnormality of the metacarpal bones Auditory hallucinations Sandal gap Hyperacusis Conspicuously happy disposition Joint dislocation Anterior open-bite malocclusion Accelerated skeletal maturation Long eyelashes Oppositional defiant disorder High axial triradius Low anterior hairline Overfriendliness Drooling Cat cry Status epilepticus Recurrent infections in infancy and early childhood Anteverted nares Hypotrichosis Hernia Alopecia Brachycephaly Abnormality of epiphysis morphology Sparse scalp hair Specific learning disability Wide intermamillary distance Short palm Everted lower lip vermilion Facial grimacing Narrow palpebral fissure Abnormality of the testis Tracheoesophageal fistula Neonatal hypotonia Poor speech Anxiety Difficulty walking Facial asymmetry Abnormal hair pattern Postural instability Oral cleft Hallucinations Horseshoe kidney Preauricular skin tag Stereotypy Narrow nasal bridge Prominent supraorbital ridges Abnormality of finger Mutism Metatarsus adductus Premature graying of hair Stenosis of the external auditory canal Epileptic spasms Esophageal atresia Functional respiratory abnormality Delusions Protruding tongue Short attention span Diastasis recti Absent eyebrow Aphasia Dysphasia Overfolded helix Atrial septal defect Thickened calvaria Ventricular septal defect Progressive microcephaly Short nose Depressed nasal bridge Deeply set eye Thick upper lip vermilion Achilles tendon contracture Short chin Prominent nose Retrognathia Esotropia Underdeveloped nasal alae Bulbous nose Febrile seizures Pes cavus Elevated serum creatine phosphokinase Dystonia Prominent forehead Narrow forehead Cerebral cortical atrophy Kyphoscoliosis Hypothyroidism Gait ataxia Narrow mouth Pectus excavatum Gait disturbance Long upper lip Protruding ear Prominent nasal tip Bruxism Prominent metopic ridge Partial agenesis of the corpus callosum Long nose Neurological speech impairment Myopathy Failure to thrive in infancy Delayed puberty External genital hypoplasia Thickened helices Small earlobe Birth length less than 3rd percentile Male hypogonadism Large earlobe Agitation Hypoplasia of penis Ventriculomegaly Thick vermilion border Tapered finger Muscular hypotonia Lactic acidosis EEG abnormality X-linked recessive inheritance Skeletal muscle atrophy Cerebellar hypoplasia Hydranencephaly Intellectual disability, progressive Profound global developmental delay Anencephaly Multiple joint contractures Generalized amyotrophy Poor head control Knee flexion contracture Pachygyria Proptosis Athetosis Tetraparesis Spastic tetraplegia Generalized myoclonic seizures Brain atrophy Hallux valgus Hyperlordosis Dysmetria Cerebellar calcifications Reduced subcutaneous adipose tissue Hypoplasia of the iris Atypical scarring of skin Severe failure to thrive Abnormality of visual evoked potentials Anhidrosis Basal ganglia calcification Decreased nerve conduction velocity Progeroid facial appearance Dermal atrophy Opacification of the corneal stroma Abnormality of the hair Cutaneous photosensitivity Pigmentary retinopathy Dental malocclusion Hypoplastic iliac wing Hypoplastic pelvis Polyneuropathy Slender nose Subcortical white matter calcifications Patchy demyelination of subcortical white matter Ivory epiphyses of the phalanges of the hand Abnormal peripheral myelination Square pelvis bone Peripheral dysmyelination Normal pressure hydrocephalus Dry hair Increased cellular sensitivity to UV light Loss of facial adipose tissue Decreased lacrimation Delayed eruption of primary teeth Abnormal auditory evoked potentials Hypoplasia of teeth Limitation of joint mobility Microcornea Delayed myelination Polydipsia Ketoacidosis Maternal diabetes Down-sloping shoulders High pitched voice Polyuria Hyperglycemia Type I diabetes mellitus Kinetic tremor Oligodontia Abnormal vertebral morphology Truncal ataxia Fine hair Blue sclerae Renal hypoplasia Prominent superficial veins Increased vertebral height Abnormality of skin pigmentation Osteoporosis Dry skin Hypermetropia Carious teeth Congenital cataract Proteinuria Mandibular prognathia Microphthalmia Muscle weakness Cerebral atrophy Arrhythmia Kyphosis Renal insufficiency Splenomegaly Hypertension Hepatomegaly Prominent proximal interphalangeal joints



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