Some patients have marfanoid habitus. Molecular pathology Defects in ZDHHC9, which encodes a zinc finger protein, cause MRXSZ. [medical-dictionary.thefreedictionary.com]

habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. [informatics.jax.org]

habitus - XLMR with marfanoid habitus Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities [csbg.cnb.csic.es]

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Human Gen. 2007, 80:982-987. [egl-eurofins.com]

habitus Additional information Further information on this disease Classification(s) (0) Gene(s) (0) Other website(s) (0) Health care resources for this disease Expert centres (0) Diagnostic tests (0) Patient organisations (0) Orphan drug(s) (0) Research [orpha.net]

polyneuropathy Thyrotoxic periodic paralysis Tibial muscular dystrophy, tardive Tourette syndrome Tremor essential Tuberous sclerosis Ullrich congenital muscular dystrophy Unverricht-Lundborg disease Urocanase deficiency Ventriculomegaly with cystic [qlinics.com]

Here, we present a male with intellectual disability and dysmorphic features, including narrow forehead, fronto-orbital hyperplasia, and prognathism. [alabmed.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]

The proband was an 8-year-old boy referred to the genetics unit for psychomotor retardation and learning disabilities. Both maternal brothers also showed learning difficulties and delayed language during childhood in a similar way to the proband. [pediatrics.aappublications.org]

retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Psychic / behavioural troubles - Scoliosis - Speech troubles / aphasia [csbg.cnb.csic.es]

retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy. [mendelian.co]

retardation Ptosis, congenital Pyridoxine-dependent epilepsy Pyruvate carboxylase deficiency Renpenning syndrome Rett syndrome preserved speech variant Rigid spine muscular dystrophy Rippling muscle disease Rolandic epilepsy, mental retardation, and [qlinics.com]

/ septum pellucidum total / partial agenesis - Flat cheek bones / malar hypoplasia - High nasal bridge - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Long hand / arachnodactyly - Macroorchidism / macrotestes - Narrow [csbg.cnb.csic.es]

face Stereotypy Joint hyperflexibility Gait disturbance Hypoplasia of the corpus callosum Hypertonia Abnormality of metabolism/homeostasis Dystonia Malar flattening Small forehead Pes cavus Constipation Alopecia areata Attention deficit hyperactivity [mendelian.co]

The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple, low-set, prominent ears; and puffy eyelids. [nature.com]

Phenotypic abnormalities associated with Fragile X syndrome include developmental delay/intellectually disability, autistic behaviors, characteristic narrow face with large jaw, and speech and language disorders. [aetna.com]

Here, we present a male with intellectual disability and dysmorphic features, including narrow forehead, fronto-orbital hyperplasia, and prognathism. [alabmed.com]

forehead Agenesis of corpus callosum Blindness Holoprosencephaly Long fingers Hearing impairment Psychosis Amblyopia Open bite Hyperplasia of the maxilla Pain Downslanted palpebral fissures Wide nasal bridge Blepharophimosis Short philtrum Sparse hair [mendelian.co]

nasal bridge, a long upper lip, an abnormally small lower jaw (hypoplastic mandible), and/or unusually large and/or “cup-shaped” ears. [rarediseases.org]

The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay. J Pediatr 1998 132 (5)795–801. [ PubMed ] [ Google Scholar ] 75. Faradz S M, Leggo J, Murray A, Lam‐Po‐Tang P R, Buckley M F, Holden J J. [ncbi.nlm.nih.gov]

He walked at the age of 4 years and showed marked expressive language delay. He had his first seizure when he was 5 years old and was diagnosed with temporal lobe epilepsy. Brain CT scan showed no anomalies. [ojrd.biomedcentral.com]

Long palpebral fissure Tremor Fair hair Long toe Inappropriate laughter Obesity Brachycephaly Thick vermilion border X-linked dominant inheritance Postnatal microcephaly Prominent supraorbital ridges Macroorchidism Maxillary lateral incisor microdontia Dysarthria [mendelian.co]

[…] microcephaly Neurogenic scapuloperoneal syndrome, Kaeser type Neuromyotonia and axonal neuropathy Neuronal migration disorder Neuronopathy distal hereditary motor Neuropathy sensor Neuropathy with liability to pressure palsies Neuropathy with sensory ataxic, dysarthria [qlinics.com]

Affected individuals typically present with asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). [aetna.com]

In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and [rarediseases.org]

coordination, olfactory deficit, diabetes mellitus, and congenital heart disease. [aetna.com]

speech and language development Behavioral abnormality X-linked recessive inheritance Ataxia Ptosis Cleft palate Absent speech Nevus Language impairment Astigmatism Macrotia Macrocephaly Autosomal recessive inheritance Thin upper lip vermilion Feeding [mendelian.co]