All individuals with variants in gene SPEN

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00416289 203839 - - M no Germany - - - - - CHUJANS Facial hypotonia, Oral motor hypotonia, Hypomimic face, Neurodevelopmental delay, Global developmental delay, Attention deficit hyperactivity disorder, Hypoplasia of the musculature, Exercise-induced muscle fatigue, Intellectual disability, profound, Delayed speech and language development, Gait disturbance, Intention tremor, Pica, Tapering pointed ends of distal finger phalanges, Clinodactyly, High palate, Hypodontia, Downslanted palpebral fissures, Single transverse palmar crease, Micrognathia, Hyporeflexia, Poor gross motor coordination 1 1 Andreas Laner
00471502 - - - F - - (not applicable) white - - - - ? HP:0000286, HP:0000369, HP:0000483, HP:0000505, HP:0000805, HP:0000826, HP:0001256, HP:0001629, HP:0001763, HP:0002019, HP:0002167, HP:0002342, HP:0002474, HP:0004209, HP:0007018, HP:0040183, HP:0100021 1 1 Marketa Wayhelova
00475163 Pat1 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - NDD see paper; ..., no late-closing anterior fontanel; high anterior hairline; normal frontal hairline; bitemporal narrowing; frontal bossing; lateral sparse eyebrows; no arched eyebrows; no synophrys; wide set eyes/'telecanthus; epicanthus; small palpebral fissures; no upslanting palpebral fissures; low-set ears; uplifted earlobe; large earlobe; no slightly over-folded superior helices; prominent nasal tip; flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; long philtrum; thin upper lip; micrognathia; no cleft lip/ cleft palate; high/narrow palate; pointed chin; global developmental delay; moderate intellectual disability (IQ48); delayed gross motor skills; delayed fine motor skills; language delay; abnormal behavior; aggressive behavior/self-injurious behavior; stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; no hemiparesis; cardiac features; no congenital heart defects; mitral regurgitation; no gastro-intestinal features; exotropia/strabismus; severe myopia; no coloboma, no microphthalmia; normal iris; brachydactyly; no pectus excavatum; bilateral pes cavus; no hip dysplasia; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; dry skin; nail hypoplasia 1 1 Johan den Dunnen
00475164 Pat2 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; high anterior hairline; normal frontal hairline; bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; wide set eyes/'telecanthus; epicanthus; small palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; no flattened nasal bridge; bulbous nose; anteverted nares; no choanal atresia; thick vermilion; long philtrum; no thin upper lip; gingival overgrowth; teeth abnormalities; micrognathia; no cleft lip/ cleft palate; high/narrow palate; pointed chin; global developmental delay; moderate intellectual disability; delayed gross motor skills; delayed fine motor skills; language delay; abnormal behavior; severe aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; abnormal pyramidal signs; gait imbalance; hemiparesis; cerebellar atrophy; cardiac features; no congenital heart defects; supraventricular tachycardia; no gastro-intestinal features; no exotropia, no strabismus; mild myopia; no coloboma, no microphthalmia; normal iris; brachydactyly; no pectus excavatum; no pes cavus; bilateral 3th-5th finger camptodactyly; genu valgum; normal ribs; scoliosis/kyphosis; feeding/swallowing problems; neonatal asphyxia; normal skin; edema feet; precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475165 Pat3 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe-W - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; medial sparse eyebrows; no arched eyebrows; no wide set eyes/telecanthus; epicanthus; normal palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; slightly over-folded superior helices; prominent nasal tip; flattened nasal bridge; no bulbous nose; no choanal atresia; normal philtrum; no thin upper lip; teeth abnormalities; mild micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; broad, upturned nasal tip; global developmental delay; delayed gross motor skills; delayed fine motor skills; language delay; tantrums, hitting; biting; no autism spectrum disorder; hand flapping, head shaking, hyperventillation; hypotonia; oral motor hypotonia; no seizures; no CNS anomalies; gastroesophageal reflux; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; small 5th toenails, bilateral clinodactyly; no hip dysplasia; no scoliosis, no kyphosis; feeding/swallowing problems; no hearing loss; cerebral hemorrhage, venous insufficiency, acrocyanosis; normal skin; nail hypoplasia 1 1 Johan den Dunnen
00475166 Pat4 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States Hispanic - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; low frontal hairline; bitemporal narrowing; no frontal bossing; lateral sparse eyebrows; no arched eyebrows; synophrys; no wide set eyes/telecanthus; epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; diastema; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; short columella, deep philtrum; global developmental delay; intellectual disability; delayed gross motor skills; delayed fine motor skills; language delay; no abnormal behavior; aggressive behavior; autism spectrum disorder; brief involuntary movements hands/arms; hypotonia; oral motor hypotonia; seizures; abnormal pyramidal signs; gait imbalance; no hemiparesis; no cardiac features; no congenital heart defects; exotropia/strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; mild camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475167 Pat5 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; wide set eyes/'telecanthus; epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; flattened nasal bridge; bulbous nose; no choanal atresia; thick vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; high/narrow palate; no pointed chin; metopic suture synostosis; global developmental delay; delayed gross motor skills; delayed fine motor skills; language delay; no abnormal behavior; no aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; normal pyramidal signs; no hemiparesis; paucity of periventricular white matter, dorsal spinal cord cyst C7-T1 ; cardiac features; small ventrical septal defect; constipation; exotropia/strabismus; mild-moderate myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no nail hypoplasia; fairly significant vesicoureteral reflux kidneys, “pear-shaped” bladder; right hip hypermobile/subluxes; frequent loose stools; not walking, no speech (makes sounds, some signs) 1 1 Johan den Dunnen
00475168 Pat6 PubMed: Radio 2021 2-generation family, affected son/mother, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; bitemporal narrowing; no frontal bossing; no sparse eyebrows; arched eyebrows; synophrys; no wide set eyes/telecanthus; epicanthus; normal palpebral fissures; low-set ears; slight uplifted earlobe; no large earlobe; no prominent nasal tip; no bulbous nose; no choanal atresia; normal philtrum; thin upper lip; teeth abnormalities; micrognathia; submucous cleft palate; high/narrow palate; no pointed chin; left preauricular ear tag, very long eyelashes (double row), coarse scalp hair, slightly high nasal bridge, retromicrognathia, severe overbite, wide palms, moles behind ears, cutis marmorata; global developmental delay; intellectual disability; speech delay, nasal speech; ADHD; aggressive behavior/self-injurious behavior; severe autism spectrum disorder; no stereotypic behavior; no hypotonia; no oral motor hypotonia; no seizures; no CNS anomalies; cardiac features; no congenital heart defects; soft murmur; gastroesophageal reflux; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; intermittent esotropia (left), hyperopia, amblyopia (left), astigmatism; no brachydactyly; no pes cavus; no hip dysplasia; normal ribs; no scoliosis, no kyphosis; left-sided post-axial polydactyly (hand), shallow sacral dimple; velopharyngeal incompetency; no hearing loss; normal skin; no nail hypoplasia; "low iodine", recurrent otitis media, sleep-disordered breathing, s/p tonsillectomy, partial adenoidectomy, tongue frenectomy, dairy free diet, EKG norma, EEG normal, 1 2 Johan den Dunnen
00475169 Pat7 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Canada French-Canadian;Serbia - - - - NDD see paper; ..., no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; lateral sparse eyebrows; no arched eyebrows; synophrys; wide set eyes/'telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; large frontal incisors; no micrognathia; cleft lip/ cleft palate; no high/narrow palate; pointed chin; downslanting palpebral fissures, hypopigmented patches; global developmental delay; mildly delayed gross motor skills; mildly delayed fine motor skills; language delay; no abnormal behavior; no aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; no hypotonia; no oral motor hypotonia; no seizures; mild neurological features; no gait imbalance; CNS anomalies; cardiac features; two ventrical septal defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no hearing loss; hemangiomas; normal skin; no nail hypoplasia 1 1 Johan den Dunnen
00475170 Pat8 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States Europe - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; plagiocephaly; global developmental delay; no gross motor skills; delayed fine motor skills; language delay; no abnormal behavior; no aggressive behavior/self-injurious behavior; no stereotypic behavior; hypotonia; excessive drooling; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; no cardiac features; no congenital heart defects; gastroesophageal reflux; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; no feeding problkems, no swallowing problems; no hearing loss; no vascular abnormalities; normal skin; no edema; no nail hypoplasia 1 1 Johan den Dunnen
00475171 Pat9 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., late-closing anterior fontanel; no high anterior hairline; low frontal hairline; bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; no flattened nasal bridge; bulbous nose; anteverted nares; no choanal atresia; normal vermilion; long philtrum; no thin upper lip; gingival overgrowth; normal teeth; micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; puffy skin under eyes; global developmental delay; delayed gross motor skills; delayed fine motor skills; language delay; abnormal behavior; no aggressive behavior/self-injurious behavior; autism spectrum disorder; stereotypic behavior; hypotonia; no oral motor hypotonia; no seizures; normal pyramidal signs; cerebellar ataxia; no hemiparesis; MRI brain normal; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; pes planus, bilateral 5th finger clinodactyly; no feeding problkems, no swallowing problems; no hearing loss; hemangioma forehead; no nail hypoplasia 1 1 Johan den Dunnen
00475172 Pat10 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; global developmental delay; mild-moderate intellectual disability; delayed gross motor skills; delayed fine motor skills; language delay; no abnormal behavior; headbanging, outbursts; no autism spectrum disorder; stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; normal pyramidal signs; unsteady gait; no hemiparesis; polymicrogyria, bilateral, frontal; no cardiac features; no congenital heart defects; gastroesophageal reflux; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; right thumb duplication; no feeding problkems, no swallowing problems; conductive hearing loss only; cerebral hemorrhage, hemangioma forehead; normal skin; no edema; short 5th toe nail 1 1 Johan den Dunnen
00475173 Pat11 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; high anterior hairline; normal frontal hairline; bitemporal narrowing; frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; wide set eyes/'telecanthus; no epicanthus; normal palpebral fissures; upslanting palpebral fissures; no low-set ears; no uplifted earlobe; large earlobe; slightly over-folded superior helices; prominent nasal tip; no flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; ?; no pointed chin; mildly coarse facies, long face, wave-shaped eyelids, everted upper/lower lips; global developmental delay; moderate intellectual disability; delayed gross motor skills; delayed fine motor skills; severe language delay; abnormal behavior; aggressive behavior/self-injurious behavior; stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; MRI brain normal; cardiac features; multiple ventrical septal defects, patent foramen ovale with spontaneous closure; gastroesophageal reflux; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; genu valgum; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no nail hypoplasia 1 1 Johan den Dunnen
00475174 Pat12 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; low frontal hairline; bitemporal narrowing; no frontal bossing; sparse eyebrows; arched eyebrows; no synophrys; wide set eyes/'telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; flattened nasal bridge; no bulbous nose; anteverted nares; no choanal atresia; normal vermilion; long philtrum; thin upper lip; gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; global developmental delay; moderate intellectual disability; delayed gross motor skills; delayed fine motor skills; language delay; abnormal behavior; aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; tethered cord; no cardiac features; no congenital heart defects; gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; terminal phalanx shortening; feeding/swallowing problems; no neonatal asphyxia; hearing loss; no vascular abnormalities; dry skin; supraorbital edema; nail hypoplasia 1 1 Johan den Dunnen
00475175 Pat13 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Italy - - - - - NDD see paper; ..., no late-closing anterior fontanel; high anterior hairline; normal frontal hairline; bitemporal narrowing; frontal bossing; no sparse eyebrows; no arched eyebrows; synophrys; no wide set eyes/telecanthus; epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; slightly bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; long philtrum; thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; pointed chin; global developmental delay; intellectual disability (IQ60); delayed gross motor skills; delayed fine motor skills; language delay; abnormal behavior; aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; mild hypotonia; oral motor hypotonia; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; no cardiac features; no congenital heart defects; no gastro-intestinal features; exotropia/strabismus; no myopia; no coloboma, no microphthalmia; normal iris; astigmatism, suspected ocular albinism; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; large hallux; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; elbows laxity, fingers laxity; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia; hyperacusia 1 1 Johan den Dunnen
00475176 Pat14 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; sparse eyebrows; arched eyebrows; no synophrys; wide set eyes/'telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; slightly over-folded superior helices; no prominent nasal tip; flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; midly thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; global developmental delay; intellectual disability (IQ65); delayed gross motor skills; delayed fine motor skills; language delay; emotional dysregulation, rigidity, inflexibility, intolerance of delays, difficulties with social interactions/communication; aggressive behavior/self-injurious behavior; autism spectrum disorder; stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; CNS anomalies; cardiac features; ?; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; slightly hypoplastic 5th fingers, tight achilles, pes planus; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; precocious puberty, 7y-premature thelarche; no nail hypoplasia 1 1 Johan den Dunnen
00475177 Pat15 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - Europe;Africa-N - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; low frontal hairline; bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; mild epicanthus; slightly short palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; slight anteverted nares; no choanal atresia; thick vermilion upper lip; normal philtrum; no thin upper lip; no gingival overgrowth; overcrowded dentition; mild micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; downslanting palpebral fissures, absent ear lobe, slightly short philtrum; global developmental delay; intellectual disability; delayed gross motor skills; difficulties coordination; language delay; very anxious, tantrums, can be over-friendly to strangers, sensory issues (very particular about touch, food), loves to hang on monkey bars; generally happy/kind (can flip into bad behaviour with hitting); autism spectrum disorder; stereotypic behavior; hypotonia, hypermobility; no oral motor hypotonia, poor at chewing food; no seizures; normal pyramidal signs; gait poor coordination, out-turned feet; slightly weaker right side (physiotherapist); 18m-MRI brain normal; constipation; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; very mild brachydactyly; no pectus excavatum; no pes cavus; mild camptodactyly (5th fingers); slightly short toes; no hip dysplasia; no genu valgum; normal ribs; ?; hypoplastic 5th fingers and toes, slight tapering of fingers, pes planus; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; small persistent capillary haemangiomas (upper lip, above right eye, nape of neck); dry skin; no edema; precocious puberty, 7y-onset breast development, 9y-early pubic hair; mild nail hypoplasia (more obvious left thumb); hyperacusia, mild central obesity, frequent UTIs, mild bilat hydronephrosis; difficult getting to sleep 1 1 Johan den Dunnen
00475178 Pat16 PubMed: Radio 2021 2-generation family, affected fetus, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; triangular ears, smooth philtrum, small mouth, retrognathia; corpus callosum agenesis, olivary heterotopia; no cardiac features; no congenital heart defects; no gastro-intestinal features; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; normal ribs; no scoliosis, no kyphosis; no edema; no nail hypoplasia; left pulmonary isomerism 1 1 Johan den Dunnen
00475179 Pat17 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Lebanon - - - - - NDD see paper; ..., high anterior hairline; normal frontal hairline; bitemporal narrowing; frontal bossing; sparse eyebrows; arched eyebrows; no synophrys; wide set eyes/'telecanthus; epicanthus; normal palpebral fissures; upslanting palpebral fissures; low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; flattened nasal bridge; bulbous nose; anteverted nares; no choanal atresia; thick vermilion; long philtrum; no thin upper lip; no gingival overgrowth; normal teeth; micrognathia; no cleft lip/ cleft palate; high/narrow palate; pointed chin; global developmental delay; intellectual disability; delayed gross motor skills; language delay; abnormal behavior; aggressive behavior/self-injurious behavior; autism spectrum disorder; no stereotypic behavior; no hypotonia; no oral motor hypotonia; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475180 Pat18 PubMed: Radio 2021 2-generation family, affected brother/sister M - - jew - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; high nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; pointed chin; periorbital fullness, long face; global developmental delay; intellectual disability; language delay; abnormal behavior; aggressive behavior/self-injurious behavior; autism spectrum disorder; stereotypic behavior; no hypotonia; no oral motor hypotonia; seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; MRI brain normal; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia 1 2 Johan den Dunnen
00475181 Pat19 PubMed: Radio 2021 sister F - - jew - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; long face ; global developmental delay; mild intellectual disability; delayed gross motor skills; language delay; communications disorder; no hypotonia; no oral motor hypotonia; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; MRI brain normal; no cardiac features; no congenital heart defects; no gastro-intestinal features; exotropia/strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475182 Pat20 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - Europe - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; retrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; short forehead, facial hirsutism; global developmental delay; non-verbal learning disorder; delayed gross motor skills; delayed fine motor skills; language delay; hallucinations; outbursts aggressive behavior; autism spectrum disorder; no hypotonia; no oral motor hypotonia; no seizures; normal pyramidal signs; ataxia, waddling gait; tremor; no hemiparesis; no CNS anomalies; no cardiac features; no congenital heart defects; gastroesophageal reflux; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; 5th finger clinodactyly; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; strawberry hemangioma with surrounding telangiectasia left flank; normal skin; no edema; no precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475183 Pat21 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; down slanting palpebral fissures; global developmental delay; delayed gross motor skills; delayed fine motor skills; language delay; head banging; autism spectrum disorder; stereotypic behavior; mild hypotonia; no seizures; gait imbalance; no hemiparesis; cardiac features; trivial ventrical septal defect; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475184 Pat22 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; initial bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; no hypotonia; no oral motor hypotonia; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; cardiac features; two interatrial defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; scoliosis/kyphosis; bilateral absent thumb, bilateral syndactyly 4-5 fingers, bilateral shortness ulna/radius, right humero-radial synostosis, hypomobility left elbow; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no nail hypoplasia 1 1 Johan den Dunnen
00475185 Pat23 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; no flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; low set eyebrows, deepset eyes, periorbital fullness, broad nasal base; global developmental delay; mild intellectual disability (IQ67); mildly delayed gross motor skills; mild language delay; autism spectrum disorder; no aggressive behavior/self-injurious behavior; autism spectrum disorder; no stereotypic behavior; no hypotonia; no oral motor hypotonia; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; flat thorax; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475186 Pat24 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; global developmental delay; borderline intellectual disability; delayed gross motor skills; delayed fine motor skills; no language delay, difficulties telling stories/finding words related to autism; autism spectrum disorder; autism spectrum disorder; hypotonia; no seizures; normal pyramidal signs; wide based gait; no hemiparesis; arachnoid cyst temporal left; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; mild hypermetropia, astigmatism ODS; no pectus excavatum; no pes cavus; no scoliosis, no kyphosis; generalized hypermobility; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no precocious puberty; fatigue, bronchial hyperreactivity 1 1 Johan den Dunnen
00475187 Pat25 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., global developmental delay; normal milestones, uncoordinated walk; no speech, communication via simple gestures like pointing, slight understanding of spoken language; concerns for autism spectrum disorder, very selective eating; autism spectrum disorder; no seizures; slightly uncoordinated gait, always walking as if running; no hemiparesis; constipation; no myopia; moderate hypermetropia (+3.0D); very selective eating; neonatal asphyxia, decelerative cardiotocography; no hearing loss; easily fatigued; pale 1 2 Johan den Dunnen
00475188 Pat26 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) white - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; arched eyebrows; synophrys; no wide set eyes/telecanthus; no epicanthus; small palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; no flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; protruding central incisors; no micrognathia; no cleft lip/ cleft palate; high/narrow palate; no pointed chin; retrognathia; global developmental delay; moderate intellectual disability; 9m-sit, 17m-walk; delayed fine motor skills; language delay; ADHD; no aggressive behavior/self-injurious behavior; autism spectrum disorder; no stereotypic behavior; hypotonia; no oral motor hypotonia; no seizures; abnormal pyramidal signs; gait imbalance; no hemiparesis; cardiac features; apical ventrical septal defect; constipation; no exotropia, no strabismus; mild myopia; no coloboma, no microphthalmia; normal iris; abnormal ERG; no brachydactyly; no pectus excavatum; bilateral pes cavus; no camptodactyly; normal toes; no hip dysplasia; genu valgum; normal ribs; scoliosis/kyphosis; clindodactyly; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475189 Pat27 PubMed: Radio 2021 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) white - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; arched eyebrows; synophrys; no wide set eyes/telecanthus; epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; fusion right lower incisor; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; mild prognathism; global developmental delay; moderate intellectual disability; 12m-sit, 17m-walk; no fine motor skills; language delay; abnormal behavior; aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; no hypotonia; no oral motor hypotonia; no seizures; abnormal pyramidal signs; no gait imbalance; no hemiparesis; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; toes abnormalities; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; dry skin; no edema; no precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475190 Pat28 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; no flattened nasal bridge; mildly bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; dental crowding, prominent central incisors; no micrognathia; no cleft lip/ cleft palate; high/narrow palate; no pointed chin; mild dolicocephaly, long face; global developmental delay; mild intellectual disability (IQ68); delayed gross motor skills; delayed fine motor skills; language delay; unusually happy, giggly, occasional inappropriate laughter; no aggressive behavior/self-injurious behavior; autism spectrum disorder; no stereotypic behavior; hypotonia; no oral motor hypotonia; no seizures; abnormal pyramidal signs, worsened tremulous and uncontrolled hyperkinetic movements “action tremor-like” ; gait imbalance; no hemiparesis; mild blush consistent, mild periventricular leukoencephalopathy not suggestive of periventricular or germinal matric hemorrhage; no gastro-intestinal features; no exotropia, no strabismus; wears glasses; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; marked kyphosis, no scoliosis; long slender limbs with mild to moderate hypermobility of moderate sized joints, bilateral 5th finger clynodactyly; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; normal skin; no edema; precocious puberty; no nail hypoplasia; diffuse short, vertical, reddish purple striae over posterior calves/thighs/buttocks/low back; no hyperextensibility, no doughy textures, no transluscency 1 1 Johan den Dunnen
00475191 Pat29 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD see paper; ..., no late-closing anterior fontanel; high anterior hairline; normal frontal hairline; bitemporal narrowing; frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; small palpebral fissures; no upslanting palpebral fissures; no low-set ears; uplifted earlobe; large earlobe; no slightly over-folded superior helices; no prominent nasal tip; flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; long philtrum; no thin upper lip; gingival overgrowth; teeth abnormalities; no micrognathia; no cleft lip/ cleft palate; high/narrow palate; pointed chin; global developmental delay; intellectual disability; delayed gross motor skills; delayed fine motor skills; language delay; no abnormal behavior; no aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; abnormal pyramidal signs; gait imbalance; no hemiparesis; hypoxic ischemic encephalopathy; cardiac features; hypoplastic left heart syndrome; no gastro-intestinal features; no exotropia, no strabismus; myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; shield chest, widely set nipples; feeding/swallowing problems; no neonatal asphyxia; hearing loss; vascular abnormalities; dry skin; edema; precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475192 Pat30 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; global developmental delay; delayed gross motor skills; language delay; no abnormal behavior; no aggressive behavior/self-injurious behavior; no stereotypic behavior; hypotonia; no oral motor hypotonia; no seizures; normal pyramidal signs; gait imbalance; no hemiparesis; CNS anomalies; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; feeding/swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia 1 1 Johan den Dunnen
00475193 Pat31 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Bosnia and Herzegovina - - - - - NDD see paper; ..., no late-closing anterior fontanel; high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; arched eyebrows; synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; long philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; global developmental delay; mild intellectual disability (IQ62); delayed gross motor skills; delayed fine motor skills; language delay; no abnormal behavior; no aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; no hypotonia; no oral motor hypotonia; seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; no CNS anomalies; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; scoliosis/kyphosis; leg-length discrepancy ; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; dry skin; no edema; no nail hypoplasia; hypothyroidism 1 1 Johan den Dunnen
00475194 Pat32 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Italy - - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; low frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; arched eyebrows; no synophrys; no wide set eyes/telecanthus; epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; long philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; high/narrow palate; pointed chin; global developmental delay; moderate intellectual disability; delayed gross motor skills; delayed fine motor skills; language delay; abnormal behavior; no aggressive behavior/self-injurious behavior; autism spectrum disorder; stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; gait imbalance; no hemiparesis; parietal/occipital cortical atrophy  ; no cardiac features; no congenital heart defects; dysphagia, chronic constipation ; exotropia/strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; feeding/swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia; advanced bone age 1 1 Johan den Dunnen
00475195 Pat33 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., global developmental delay; no intellectual disability; delayed gross motor skills; language delay; abnormal behavior; aggressive behavior/self-injurious behavior (in past); PDD-NOS; stereotypic behavior; no seizures; no cardiac features; no congenital heart defects; chronic gastroesophageal reflux, chronic constipation, diarrhea, bloody stools, vomiting; corrected vision problems; no neonatal asphyxia; no hearing loss; no precocious puberty; respiratory problems; significant externalizing and internalizing behavior problems 1 1 Johan den Dunnen
00475196 Pat34 PubMed: Radio 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., global developmental delay; intellectual disability; delayed gross motor skills; language delay; abnormal behavior; aggressive behavior/self-injurious behavior; autism spectrum disorder; stereotypic behavior 1 1 Johan den Dunnen
00475862 - - - M - - (not applicable) - - - - - autism HP:0002376, HP:0000717, HP:0000729 1 1 Marketa Wayhelova
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