facial features Growth delay Polymicrogyria Status epilepticus Generalized myoclonic seizures Urinary incontinence Focal-onset seizure Febrile seizures Epileptic encephalopathy Generalized-onset seizure Apraxia Hemiparesis Continuous spike and waves [mendelian.co]

MRD15 patients manifest developmental delay, hypotonia, absent or hypoplastic fifth finger- or toenails, coarse facies, sparse scalp hair, thick eyebrows, long eyelashes, microcephaly, small cerebellum, seizures, hearing loss, abnormal delayed dentition [medical-dictionary.thefreedictionary.com]

[…] patients manifest developmental delay, hypotonia, absent or hypoplastic fifth finger- or toenails, coarse facies, sparse scalp hair, thick eyebrows, long eyelashes, microcephaly, small cerebellum, seizures, hearing loss, abnormal delayed dentition, and hirsutism [medical-dictionary.thefreedictionary.com]

Short stature, early loss of permanent teeth and hirsutism are observed in adults. Cystic kidney disease is rare but an essential syndromic component in a subset of patients. [orpha.net]

[…] abnormalities (tear duct obstruction, ptosis, strabismus, glaucoma, coloboma, cataract, refractive error), congenital heart defects (PDA, VSD, ASD), urinary tract malformations, specific dental abnormalities, epilepsy, and skin features (naevus flammeus, hirsutism [atlasgeneticsoncology.org]

A syndrome characterized by growth retardation, severe mental retardation, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations [icd10data.com]

A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. [icd10data.com]

Sparse hair, intrauterine growth retardation and low birth weight are also features. Few patients with Revesz syndrome have been reported and the clinical features have not been fully delineated. [disorders.eyes.arizona.edu]

hair, limited movement, hypertonicity, seizures, arterial tortuosity, childhood death Membrane transporter, copper-exporting ATPase activity Table 4. [intechopen.com]

A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech. [medical-dictionary.thefreedictionary.com]

Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis. [kundoc.com]

hypotonia; Muscle hypertonicity; Spasticity NEUROLOGIC: [Central nervous system]; Psychomotor retardation, severe to profound; Seizures (rare) MISCELLANEOUS: Contiguous gene deletion syndrome MOLECULAR BASIS: Caused by deletion of 6-12Mb on 3pter-p25 [findzebra.com]

Oftentimes they demonstrate torticollis. They may have difficulty directing their hands to a toy, generating a flinging hand motion. [massgeneral.org]

[…] peculiar hair patterns giving the face its characteristic appearance, frequently associated with various neurological, behavioral, cardiovascular, gastrointestinal, dermatoglyphic abnormalities, and occasional sandifer anomaly (abnormal body posturing, torticollis [icd10data.com]

[…] exercise intolerance Muscle weakness Neuropathy After birth 0.6/dead Other signs Reference Gastrointestinal dysmotility [5] Hearing loss, hypogonadism [5] Acute disseminated encephalomyelitis, drowsiness, spasticity Sensory defect Heart block Hypoacusia Torticollis [kundoc.com]

The facial skin showed a spectrum ranging from a coarse face over an aged appearance to overt cutis laxa. [ojrd.biomedcentral.com]

Face Mesomelia-Synostoses Syndrome Mesomelic Limb Shortening and Bowing Michels Caskey Syndrome Microcephaly Albinism Digital Anomalies Syndrome Microcephaly Seizures Mental Retardation Heart Disorders Microcephaly, Growth Retardation, Cataract, Hearing [rgd.mcw.edu]

face, ocular hypertelorism, flat nasal bridge, and upslanting palpebral fissures underdeveloped genitalia, hypergonadotropichypogonadism, 20 to 60 Table 2. [intechopen.com]