Delayed speech and language development, and Sleep disturbance

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

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

SOURCES: UMLS ORPHANET

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37

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

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

SOURCES: OMIM MONDO UMLS ORPHANET

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

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

SOURCES: OMIM UMLS MONDO

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

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

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

SOURCES: MONDO ORPHANET UMLS OMIM

Low match LOPES-MACIEL-RODAN SYNDROME; LOMARS

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

SOURCES: UMLS OMIM

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

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

SOURCES: GARD DOID MESH OMIM MONDO ORPHANET UMLS

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

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

SOURCES: UMLS MESH MONDO ORPHANET OMIM GARD

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

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

SOURCES: SCTID DOID ORPHANET GARD OMIM MONDO UMLS

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

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

SOURCES: DOID UMLS OMIM MESH MONDO

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 ).

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

SOURCES: UMLS MONDO OMIM