Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material [malacards.org]

disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, [se-atlas.de]

Intellectual Disability Intellectual disability, autosomal recessive Intellectual Disability Intellectual disability, syndromal Intellectual Disability Intellectual disability, X-linked Intellectual Disability Joubert syndrome Intellectual Disability [genomediagnosticsnijmegen.nl]

Keywords Adaptive Behavior Advocacy Assessment Autism spectrum disorder Cerebral palsy Developmental disabilities Genetic disorders Learning disabilities Litigation Mental disabilities Mental health services Mental retardation autism behavior Editors [link.springer.com]

Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile [se-atlas.de]

Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." Scoliosis MedGen UID: 21278 • Concept ID: C0037932 • Finding The presence of an abnormal lateral curvature of the spine. [ncbi.nlm.nih.gov]

Syndrome ; Chudley-Lowry Syndrome (see also ATRX-Associated XLID) ; CK Syndrome ; Clark-Baraitser Syndrome ; Coffin-Lowry Syndrome ; Cornelia de Lange Syndrome, X-Linked ; Craniofacioskeletal ; Duchenne Muscular Dystrophy ; Dyskeratosis Congenita ; Epilepsy-Intellectual [worldcat.org]

雑誌 Am J Hum Genet 97:343-52 (2015) DOI: 10.1016/j.ajhg.2015.07.004 文献 PMID: 28098945 著者 Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS タイトル Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia [genome.jp]

Global developmental delay MedGen UID: 892935 • Concept ID: C4020875 • Pathologic Function A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills [ncbi.nlm.nih.gov]

[…] the association between a larger microdeletion on 16p and a syndrome that included developmental delay, distinct facial appearance, and other variable features. [nejm.org]

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome Related symptoms: Intellectual disability Seizures Global developmental delay Generalized hypotonia Microcephaly SOURCES: UMLS MONDO OMIM DOID More info about MENTAL RETARDATION [mendelian.co]

Delay-Hypotonia Syndrome Raine Syndrome Renpenning Syndrome 1 Robin Sequence With Cleft Mandible And Limb Anomalies Rodrigues Blindness Scalp-Ear-Nipple Syndrome Schizophrenia 1 Seckel Syndrome 9 Sheldon-Hall Syndrome Syndromic X-Linked Intellectual [familydiagnosis.com]

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-spasticity-sleep [se-atlas.de]

Single transverse palmar crease MedGen UID: 96108 • Concept ID: C0424731 • Finding A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. [ncbi.nlm.nih.gov]

By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. [books.google.com]

Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome X-Linked Intellectual Disability, Pai Type X-Linked Intellectual Disability With Marfanoid Habitus X-Linked Mandibulofacial Dysostosis X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism [familydiagnosis.com]

It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. [mendelian.co]

Craniofacial features include deep-set eyes, broad nasal bridge and nasal tip, a wide mouth, a thin upper lip and prognathism ( figure 1 C and table 1 ). [bmjopen.bmj.com]

Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-prognathism-eye [se-atlas.de]

Top matches: Low match HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2 X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on [mendelian.co]

The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth. [ncbi.nlm.nih.gov]

[…] metameric syndrome Cerebrofacial arteriovenous metameric syndrome type 1 Cerebrofacial arteriovenous metameric syndrome type 3 Cerebrofacioarticular syndrome Cerebrooculonasal syndrome Cerebroretinal vasculopathy Cerebrotendinous xanthomatosis Cervical hypertrichosis-peripheral [se-atlas.de]

A metabolic disease could also be suspected based on certain clinical symptoms, such as digestion-related symptoms (cyclic vomiting, selective eating or gastrointestinal problems), dermatologic and hair changes (rashes, pigmented skin eruptions, hypertrichosis [mdpi.com]

Agenesis of permanent teeth Gingival fibromatosis Skeletal dysplasia Generalized hypertrichosis Congenital, generalized hypertrichosis Thick vermilion border Dolichocephaly Cardiomyopathy Generalized hirsutism Low-set ears Myopathy Progressive microcephaly [mendelian.co]

Hirsutism MedGen UID: 42461 • Concept ID: C0019572 • Finding A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. [ncbi.nlm.nih.gov]

Hypertelorism MedGen UID: 9373 • Concept ID: C0020534 • Finding Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. [ncbi.nlm.nih.gov]

* Features attributed to FGS include, forehead, hair upsweep, abnormal ears, hypertelorism, fissures, thumbs halluces, fingertip pads, complete agenesis of the corpus callosum, mental retardation, hypotonia, behavior consisting, , personality short [factpub.org]

Abnormal facial shape Delayed speech and language development Thick eyebrow Short stature Microcephaly Hyperactivity Generalized hypotonia Abnormality of the dentition Aggressive behavior Rare Symptoms - Less than 30% cases Downslanted palpebral fissures Hypertelorism [mendelian.co]

"Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance". Human molecular genetics. 2014; 23: 2888 ( #1059502 ) 17. [med.nyu.edu]

[…] the aqueduct of Sylvius Hydrocephaly-cerebellar agenesis syndrome Hyperekplexia-epilepsy syndrome Hyperostosis corticalis generalisata Hyperphalangy Hyperphalangy, bilateral Hyperphalangy, unilateral Hyperphosphatasia-intellectual disability syndrome Hypertelorism [se-atlas.de]

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material [malacards.org]

Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." Scoliosis MedGen UID: 21278 • Concept ID: C0037932 • Finding The presence of an abnormal lateral curvature of the spine. [ncbi.nlm.nih.gov]

XLID-Nystagmus-Seizures ; XLID-Optic Atrophy ; XLID-Panhypopituitarism ; XLID-Precocious Puberty ; XLID-Psoriasis ; XLID-Retinitis Pigmentosa ; XLID-Rolandic Seizures ; XLID-Spastic Paraplegia, Type 7 ; XLID-Spastic Paraplegia-Athetosis ; XLID-Spondyloepimetaphyseal [worldcat.org]

More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016 ). [mendelian.co]

Benign hereditary chorea Benign infantile focal epilepsy with midline spikes and waves during sleep Benign infantile seizures associated with mild gastroenteritis Benign nocturnal alternating hemiplegia of childhood Benign non-familial infantile seizures [se-atlas.de]

Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type, also known as mrxscs, is related to mental retardation, x-linked, syndromic, cabezas type and syndromic x-linked intellectual disability cabezas type, and has symptoms including seizures and ataxia [malacards.org]

Cerebellar ataxia MedGen UID: 849 • Concept ID: C0007758 • Disease or Syndrome Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. [ncbi.nlm.nih.gov]

37 Spinocerebellar Ataxia 40 Spinocerebellar Ataxia 41 Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal [familydiagnosis.com]

[…] type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia [se-atlas.de]

Contenuti: Aarskog Syndrome ; Abidi Syndrome ; Adrenoleukodystrophy ; Ahmad Syndrome ; Aicardi Syndrome ; Allan-Herndon-Dudley Syndrome ; Alpha-Thalassemia Intellectual Disability (see also ATRX-Associated XLID) ; AP1S2-Associated XLID ; Apak Ataxia-Spastic [worldcat.org]

Cerebellar ataxia MedGen UID: 849 • Concept ID: C0007758 • Disease or Syndrome Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. [ncbi.nlm.nih.gov]

ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar ataxia type IV Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome [se-atlas.de]

Some causes may include: 1 Causes of Unsteady Gait : 7q11.23 Microduplication Syndrome AL-Raqad Syndrome Ataxia-Pancytopenia Syndrome Ataxia-Telangiectasia-Like Disorder 2 Cerebellar Ataxia, Nonprogressive, With Mental Retardation Cerebelloparenchymal [familydiagnosis.com]

Related phenotypes are peripheral neuropathy and cerebellar atrophy [malacards.org]

Peripheral neuropathy MedGen UID: 141046 • Concept ID: C0442874 • Disease or Syndrome Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. [ncbi.nlm.nih.gov]

neuropathy-myopathy-hoarseness-hearing loss syndrome Periventricular nodular heterotopia Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Peroxisome biogenesis disorder Perry syndrome Persistent combined dystonia Peters [se-atlas.de]

neuropathy, hypotonia Potocki–Lupski syndrome (17p11.2 duplication) [ 89 ] NA 50–100 Normal to moderate Decreased eye contact, motor manierisms or posturing, sensory hypersensitivity or preoccupation, repetitive behaviors or interests, lack of appropriate [mdpi.com]

This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia [ncbi.nlm.nih.gov]