Delayed speech and language development, and Nevus

Diseases related with Delayed speech and language development and Nevus

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Nevus that can help you solving undiagnosed cases.


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Nevus


SOURCES: UMLS OMIM MONDO GARD

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18

Low match AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Seizures
  • Nevus
  • Delayed speech and language development
  • Tics
  • Autism


SOURCES: UMLS OMIM MONDO

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9 Is also known as epilepsy, female-restricted, with mental retardation;efmr, juberg-hellman syndrome;efmr; juberg-hellman syndrome

Related symptoms:

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


SOURCES: GARD DOID MESH OMIM MONDO ORPHANET UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9

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Other less relevant matches:

Low match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E Is also known as ;beta-sarcoglycanopathy; lgmd2e; limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Milia
  • Myopathy
  • Nevus
  • Delayed speech and language development


SOURCES: MONDO SCTID DOID OMIM UMLS GARD ORPHANET

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Ataxia
  • Visual impairment


SOURCES: OMIM UMLS ORPHANET

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

Low match JOUBERT SYNDROME 24; JBTS24

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MONDO OMIM DOID UMLS

More info about JOUBERT SYNDROME 24; JBTS24

Low match HUNTINGTON DISEASE-LIKE 1; HDL1

HUNTINGTON DISEASE-LIKE 1; HDL1 Is also known as huntington-like neurodegenerative disorder 1;hln1, huntington-like neurodegenerative disorder, autosomal dominant, prion disease, early-onset, with prominent psychiatric features;early-onset prion disease with prominent psychiatric features; hdl1

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: UMLS OMIM MONDO ORPHANET DOID MESH

More info about HUNTINGTON DISEASE-LIKE 1; HDL1

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7

The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Ataxia
  • Visual impairment


SOURCES: OMIM MONDO MESH GARD DOID UMLS ORPHANET

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7

Low match SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

gene, localised to the p11.21 region of the X chromosome.

SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD Is also known as mental retardation, x-linked, syndromic, siderius type, siderius-hamel syndrome;

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cryptorchidism
  • Nevus
  • Delayed speech and language development


SOURCES: ORPHANET MONDO GARD DOID OMIM UMLS MESH

More info about SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

Low match JOUBERT SYNDROME 10; JBTS10

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Growth delay


SOURCES: UMLS DOID MESH OMIM MONDO

More info about JOUBERT SYNDROME 10; JBTS10

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Nevus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
EEG abnormality Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Nevus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Autism Polydactyly Mental deterioration Autistic behavior Cerebellar atrophy Aggressive behavior

Rare Symptoms - Less than 30% cases


Neurological speech impairment Molar tooth sign on MRI Cephalocele Rod-cone dystrophy Encephalocele Postaxial polydactyly Dysmetria Polymicrogyria Vacuolated lymphocytes Juvenile onset Gait disturbance Absent speech Clonus Nystagmus X-linked recessive inheritance Generalized hypotonia Hyperactive deep tendon reflexes Visual impairment Cerebral atrophy Myoclonus Visual loss Personality disorder Clumsiness Infantile onset Generalized myoclonic seizures Hyperreflexia Encephalopathy Spasticity Rigidity Developmental regression Focal seizures Cognitive impairment Scoliosis Memory impairment Abnormality of the basal ganglia Abnormality of the shoulder Slow saccadic eye movements Delusions Restlessness Rapidly progressive Postural tremor Hypokinesia Trophic changes related to pain Slurred speech Basal ganglia gliosis Neurodegeneration Poor fine motor coordination Abnormality of higher mental function Optic atrophy Abnormal head movements Tremor Blindness Jerky ocular pursuit movements Abnormality of ocular smooth pursuit Abnormal pyramidal sign Abnormality of extrapyramidal motor function Retinopathy Abnormal saccadic eye movements Sleep disturbance Pigmentary retinopathy Abnormal posturing Jerky head movements Simultanapraxia Intellectual disability, mild Loss of speech Macrocephaly Long toe Pica Growth delay Motor delay Low-set ears Epicanthus Feeding difficulties Downslanted palpebral fissures Wide nasal bridge Frontal bossing Bilateral cleft lip and palate Recurrent infections Oxycephaly Feeding difficulties in infancy Hirsutism Thick vermilion border Cerebellar vermis hypoplasia Intellectual disability, profound Deep philtrum Enlarged cisterna magna Bilateral cleft lip Thoracic kyphosis Vegetative state Long face Snout reflex Cryptorchidism Atrial septal defect Mania Upslanted palpebral fissure Pes planus Synophrys Cleft lip Cleft upper lip Decreased testicular size Slender finger Broad nasal tip Low posterior hairline Sloping forehead Oral cleft Nasal speech Prominent supraorbital ridges Large hands Preaxial hand polydactyly Preaxial polydactyly Personality changes Agenesis of cerebellar vermis Global brain atrophy Elevated serum creatine phosphokinase Bruxism Hyperventilation Hemiclonic seizures Intermittent hyperventilation Milia Myopathy Cardiomyopathy Difficulty walking Absence seizures Muscular dystrophy Dilated cardiomyopathy Cirrhosis Waddling gait Scapular winging Gowers sign Broad-based gait Atonic seizures Status epilepticus Calf muscle hypertrophy Fever Tics Stereotypy Schizophrenia Hemiplegia Preeclampsia Eclampsia Intraventricular hemorrhage Intellectual disability, severe Epileptic encephalopathy Dystonia Hyperactivity X-linked inheritance Febrile seizures Psychosis Cutaneous photosensitivity Generalized tonic-clonic seizures Increased variability in muscle fiber diameter Myopathic facies Incoordination Anxiety Ventriculomegaly Behavioral abnormality Depressivity Cerebral cortical atrophy Dementia Gait ataxia Weight loss Unsteady gait Autosomal dominant inheritance Abnormality of eye movement Gliosis Chorea Bradykinesia Frequent falls Involuntary movements Mask-like facies Dysarthria Adactyly Myoglobinuria Increased neuronal autofluorescent lipopigment Proximal amyotrophy Pelvic girdle muscle weakness Limb-girdle muscle weakness Shoulder girdle muscle atrophy Calf muscle pseudohypertrophy Pelvic girdle muscle atrophy Progressive visual loss Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Abnormality of digit Small finger Talipes equinovarus Cerebellar hypoplasia Talipes Hypermetropia Postaxial hand polydactyly Pachygyria Mutism Infra-orbital crease



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