Delayed speech and language development, and Sleep disturbance

Diseases related with Delayed speech and language development and Sleep disturbance

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


Top matches:

Low match MILD CANAVAN DISEASE

Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.

MILD CANAVAN DISEASE Is also known as juvenile canavan disease

Related symptoms:

  • Delayed speech and language development
  • Sleep disturbance
  • Iris hypopigmentation
  • Mild global developmental delay


SOURCES: UMLS ORPHANET

More info about MILD CANAVAN DISEASE

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM MONDO UMLS ORPHANET

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Feeding difficulties


SOURCES: OMIM UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

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Other less relevant matches:

Low match DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; DYSEIDD

DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; DYSEIDD Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO ORPHANET UMLS OMIM

More info about DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; DYSEIDD

Low match LOPES-MACIEL-RODAN SYNDROME; LOMARS

Related symptoms:

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


SOURCES: UMLS OMIM

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

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

Low match HYPERTHYROIDISM, NONAUTOIMMUNE

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

HYPERTHYROIDISM, NONAUTOIMMUNE Is also known as hyperthyroidism, congenital nonautoimmune, hyperthyroidism, nonautoimmune, autosomal dominant, toxic thyroid hyperplasia, autosomal dominant;familial non-immune hyperthyroidism; resistance to thyroid stimulating hormone

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Motor delay
  • Ptosis


SOURCES: UMLS MESH MONDO ORPHANET OMIM GARD

More info about HYPERTHYROIDISM, NONAUTOIMMUNE

Low match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5

NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra. A characteristic finding is T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra. Cerebral and cerebellar atrophy are also observed (summary by Haack et al., 2012 and Saitsu et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 Is also known as beta-propeller protein-associated neurodegeneration;bpan, static encephalopathy of childhood with neurodegeneration in adulthood;senda;bpan; nbia5; neurodegeneration with brain iron accumulation type 5; senda; static encephalopathy of childhood with neurdegeneration in adulthood

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Motor delay
  • Spasticity


SOURCES: SCTID DOID ORPHANET GARD OMIM MONDO UMLS

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5

Low match PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 Is also known as parkinson disease 1, autosomal dominant lewy body

Related symptoms:

  • Autosomal dominant inheritance
  • Pica
  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia


SOURCES: DOID UMLS OMIM MESH MONDO

More info about PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48

EIEE48 is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech, poor, if any, motor development, and onset of seizures in the first year of life. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Absent speech Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Spasticity Aggressive behavior Bruxism Epileptic encephalopathy Encephalopathy Feeding difficulties Status epilepticus Dyskinesia Autosomal dominant inheritance Bradykinesia Hyperactivity Autosomal recessive inheritance

Rare Symptoms - Less than 30% cases


Poor speech Dysarthria Developmental regression Motor delay Neuronal loss in central nervous system Parkinsonism Hyperreflexia Scoliosis Gliosis Agitation Focal seizures Infantile onset EEG abnormality Generalized tonic-clonic seizures Tremor Dysphagia Cognitive impairment Cerebellar atrophy Cerebral atrophy Dementia Generalized myoclonic seizures Arrhythmia Hypsarrhythmia Atonic seizures Mental deterioration Pica Rigidity Involuntary movements Paraplegia Babinski sign Abnormality of eye movement Spastic paraplegia X-linked dominant inheritance Neurodegeneration Paraparesis Abnormal autonomic nervous system physiology Progressive encephalopathy Frontal release signs Gait disturbance Iron accumulation in brain Iron accumulation in substantia nigra Spastic paraparesis Hypokinesia Depressivity Delusions Poor eye contact Pallor Rod-cone dystrophy Hyporeflexia Hypoplasia of the corpus callosum Ventriculomegaly Microcephaly Insidious onset Central hypoventilation Parkinsonism with favorable response to dopaminergic medication Shuffling gait Lewy bodies Hypoventilation Progressive Orthostatic hypotension Resting tremor Urinary urgency Hallucinations Inability to walk Hypotension Urinary incontinence Postural instability Clonus Anxiety Abnormal pyramidal sign Myoclonus Optic atrophy Diarrhea Pretibial myxedema Myopia Fever Nevus Ataxia Central hypotonia Focal seizures with impairment of consciousness or awareness Spastic tetraparesis Tetraparesis High myopia Chorea Severe global developmental delay Kyphosis Pain Autism Mood swings Abnormal cortical gyration Drooling Trophic changes related to pain Infantile spasms Stereotypy Death in infancy Respiratory distress Respiratory insufficiency Intellectual disability, moderate Mild global developmental delay Iris hypopigmentation Intellectual disability, severe X-linked inheritance Activating thyroid-stimulating hormone receptor defect Small for gestational age Eyelid retraction Thyrotoxicosis with diffuse goiter Thyroid hyperplasia Graves disease Hand tremor Hyperthyroidism Tachypnea Goiter Accelerated skeletal maturation Premature birth Tachycardia Weight loss Autistic behavior Sporadic Proptosis Abnormality of metabolism/homeostasis Edema Ptosis Intermittent hyperventilation Hemiclonic seizures Hyperventilation Absence seizures Cutaneous photosensitivity Psychosis Febrile seizures Profound global developmental delay



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